Lecture “Anomalies of development of the female reproductive system” of the female reproductive system” - presentation. Anomalies of the fallopian tube

Underdevelopment of the genital organs is observed in cases where their formation stops at the intrauterine or childhood level of development and in adulthood the anatomical and functional features of the genital apparatus characteristic of a child’s body remain.

The most common is underdevelopment of the uterus.

There are two forms of uterine underdevelopment: hypoplastic uterus (uterus hypoplasticus) and children's uterus (uterus infantilis).

Hypoplastic uterus differs in that its body is twice as long as its neck.

baby uterus has a very long cervix (twice as long as the body of the uterus), the vaginal part of the cervix is ​​narrow, conical in shape, with a pinpoint opening of the uterus. An underdeveloped uterus, especially a child's uterus, is often characterized by an abnormal position in the form of acute angular anteflexion. The length of the cavity of the underdeveloped uterus is always less than normal (less than 7 cm).

Distinguish three degrees of uterine underdevelopment: first degree - the length of the uterine cavity is 5-7 cm; second degree - 3.5 - 5 cm; the third is less than 3.5 cm.

In women suffering underdevelopment of the uterus, there are usually signs of underdevelopment of other genital organs. The ovaries are reduced, underdeveloped, and located high. The fallopian tubes are elongated, tortuous, their lumen is very narrow, which predisposes to ectopic pregnancy or infertility. The labia majora are poorly developed and do not cover the labia minora and the clitoris. The vagina is narrow, with pronounced folding of the mucous membrane, the fornix is ​​not pronounced. The mammary glands are poorly developed.
Menstruation in women with underdeveloped uterus is almost always late and scanty.

In women with baby uterus menstruation accompanied by severe pain (dysmenorrhea). Childbearing function is impaired. Women with baby uteruses suffer from persistent infertility and decreased libido and orgasm.

In women with hypoplastic uterus Pregnancy usually occurs after many years of marriage; libido disturbances are rare. Sexual function with underdevelopment of the genital organs is always impaired and is determined by the degree of underdevelopment of the genital organs.

The functional prognosis for a child's uterus is significantly worse than for a hypoplastic one.

Treatment of underdevelopment of internal organs consists of a complex effect on the body of hormones in combination with restorative therapy, sports, proper alternation of work and rest, physiotherapeutic treatment methods and gynecological massage. Sanatorium-resort treatment is advisable. Previously used surgical treatment methods (discision - bloody dilatation of the cervix and curettage of the uterine mucosa) are not always justified. Pregnancy is a favorable factor contributing to the further development of the uterus, but pregnancy often ends in spontaneous abortion or premature birth.

Malformations of the vagina and uterus in girls

Malformations of the internal genital organs are congenital disorders of the shape and structure of the uterus and vagina.

Synonyms

Anomalies or malformations of the development of the vagina and uterus.

ICD-10 software code

Q51 Congenital anomalies (malformations) of the body and cervix.

Q52 Other congenital anomalies (malformations) of the female genital organs.

Epidemiology

Malformations of the female genital organs make up 4% of all congenital malformations. They are detected in 3.2% of women of reproductive age. According to E.A. Bogdanova (2000), among girls with gynecological pathology, 6.5% are diagnosed with developmental anomalies of the vagina and uterus. Malformations of the genitourinary system occupy 4th place (9.7%) in the structure of all developmental anomalies of modern humans. Over the past 5 years, a 10-fold increase in the incidence of genital malformations in girls has been noted. Of these defects, the most frequently detected in girls during adolescence are hymenal atresia, aplasia of the lower parts of the vagina, and duplication of the vagina and uterus with partial or complete aplasia of one of the vaginas. In girls, the most common malformations of the genital organs are aplasia of the uterus and vagina (Rokitansky-Küster-Mayer syndrome) and defects that lead to disruption of the outflow of menstrual blood when the uterus is functioning. The frequency of aplasia of the vagina and uterus is 1 case per 4000-5000 newborn girls.

Prevention

Preventive measures have not currently been developed.

Screening

The risk group for giving birth to girls with developmental defects includes women with occupational hazards and bad habits (alcoholism, smoking), who suffered viral infections during pregnancy from 8 to 16 weeks.

Classification

Currently, there are many classifications of malformations of the vagina and uterus, based on differences in the embryogenesis of the internal genital organs, on the results of x-ray examination, and on the identification of individual clinical and anatomical forms.

In their practice, gynecologists of childhood and adolescence most often use classification by E.A. Bogdanova and G.N. Alimbayeva (1991), which examines defects that clinically manifest themselves during puberty (see figure):

class I - atresia of the hymen (variants of the structure of the hymen);

class II - complete or incomplete aplasia of the vagina and uterus:

Complete aplasia of the uterus and vagina (Rokitansky-Küster-Mayer-Hauser syndrome);

Complete aplasia of the vagina and cervix with a functioning uterus;

Complete vaginal aplasia with a functioning uterus;

Partial aplasia of the vagina up to the middle or upper third with a functioning uterus;

class III - defects associated with the absence of fusion or incomplete fusion of paired embryonic genital ducts:

Complete duplication of the uterus and vagina;

Duplication of the body and cervix in the presence of one vagina;

Duplication of the uterine body in the presence of one cervix and one vagina (saddle uterus, bicornuate uterus, uterus with a complete or incomplete internal septum, uterus with a rudimentary functioning closed horn);

class IV - defects associated with a combination of duplication and aplasia of paired embryonic genital ducts:

Duplication of the uterus and vagina with partial aplasia of one vagina;

Duplication of the uterus and vagina with complete aplasia of both vaginas;

Duplication of the uterus and vagina with partial aplasia of both vaginas;

Duplication of the uterus and vagina with complete aplasia of the entire duct on one side (unicornuate uterus).

Rice. Malformations of the vagina and uterus, most often manifested during puberty.

1 - atresia; 2 - aplasia of the vagina and uterus; 3 - partial or complete vaginal atresia; 4 - doubling of the vagina and uterus with partial or complete aplasia of one of the vaginas.

Etiology and pathogenesis

To date, it has not been established exactly what exactly underlies the occurrence of malformations of the uterus and vagina. However, the role of hereditary factors, biological inferiority of the cells that form the genital organs, and exposure to harmful physical, chemical and biological agents is undoubted.

The occurrence of various forms of malformations of the uterus and vagina depends on the pathological influence of teratogenic factors or the implementation of hereditary predisposition during embryogenesis.

There are several theories about the absence or only partial fusion of the paired embryonic reproductive canals (Müllerian canals). According to one of them, disruption of the fusion of Müllerian channels occurs due to translocation of the gene that activates the synthesis of Müllerinhibiting substance on the X chromosome, as well as due to sporadic gene mutations and exposure to teratogenic factors. It is also assumed that the slow proliferation of the epithelium covering the genital ridges on the coelom side can lead to disruption of the formation of Müllerian cords. As is known, the development of the internal and external genital organs according to the female type is associated with a genetically determined loss of tissue response to androgens. In this regard, the absence or deficiency of estrogen receptors in the cells of the Müllerian ducts can inhibit their formation, which leads to changes such as uterine aplasia.

The theory about the role of early perforation of the wall of the urogenital sinus is of interest. The pressure in the lumen of the vagina and Müllerian canals drops and one of the reasons leading to the death of cells in the septum between the paramesonephric canals disappears. The later approach of the Müllerian canals to each other and the ingrowth of mesenchymal blood vessels between them leads to the preservation of the cells of the medial walls of the canals and the formation of a septum, bicornuate or double uterus.

In addition, the rapprochement and resorption of the contacting walls of the Müllerian canals can be hindered by developmental anomalies of neighboring organs: malformations of the urinary system (in 60% of patients) or disorders of the musculoskeletal system (in 35% of patients with malformations of the uterus and vagina).

Malformations of the vagina and uterus are often accompanied by malformations of the urinary system, which is explained by the commonality of embryogenesis of the reproductive and urinary systems. Depending on the type of genital defect, the frequency of concomitant defects of the urinary system ranges from 10 to 100%. In addition, the development of certain types of genital anomalies is accompanied by corresponding anomalies of the urinary system. Thus, when the uterus and vagina are doubled with partial aplasia of one of the vaginas, in 100% of cases, aplasia of the kidney is observed on the side of the malformation of the genital organs.

In the absence of conditions for the growth of the Müllerian ducts, complete aplasia of the uterus and vagina occurs. With prolapse or slow progression of the urogenital tract to the urogenital sinus, vaginal aplasia is formed with a functioning uterus. In this case, the extent of aplasia is determined by the severity of the retardation of duct growth. According to the literature, in almost all cases, complete aplasia of the vagina in the presence of a uterus is combined with aplasia of its cervix and cervical canal. Sometimes patients have 2 rudimentary uteruses.

The influence of factors that prevent the resorption of the walls of the Müllerian canals leads to the formation of various variants of duplication of the uterus and vagina.

Clinical picture

At puberty, patients with aplasia of the vagina, uterus, atresia of the hymen, aplasia of the whole or part of the vagina with a functioning uterus experience primary amenorrhea and (or) pain syndrome.

In girls with aplasia of the vagina and uterus, a characteristic complaint is the absence of menstruation, and subsequently the impossibility of sexual activity. In some cases, in the presence of a functioning rudimentary uterus on one or both sides, cyclic pain in the lower abdomen may occur in the pelvis.

Patients with hymenal atresia at puberty experience complaints of cyclically recurring pain, a feeling of heaviness in the lower abdomen, and sometimes difficulty urinating. The literature provides many examples of dysfunction of neighboring organs in girls with hymenal atresia and the formation of large hematocolpos.

A characteristic complaint in patients with aplasia of the vaginal part with a functioning uterus is considered to be the presence of cyclically recurring (every 3-4 weeks) pain in the lower abdomen (aching with hematocolpos, cramping with hematometer). Vomiting, increased body temperature, frequent, painful urination, and impaired bowel movements may also occur.

When the vagina and uterus are doubled with partial aplasia of one of the vaginas and an additional functioning uterine horn, sharply painful menstruation is characteristic. With this type of defect, a violation of the outflow of menstrual blood from one of the vaginas is detected, which is partially aplastic (blindly closed) at the level of its upper, middle or lower third. Patients are bothered by monthly recurring severe pain in the lower abdomen, which is not relieved by either analgesics or antispasmodics. Pain can lead patients to suicide attempts. When a fistula tract forms between the vaginas, patients note the appearance of constant bloody or purulent discharge from the genital tract.

With such types of defects as complete duplication of the uterus and vagina, bicornuate uterus, intrauterine septum (complete or incomplete), clinical manifestations of the disease may be absent, or patients complain of painful menstruation.

Patients with a rudimentary closed uterine horn complain of severe pain in the lower abdomen, occurring soon after menarche, increasing with each menstruation, and the pain is not relieved by antispasmodics and analgesics. The intensity of the pain and the ineffectiveness of therapy lead to the fact that patients may have suicidal thoughts, and sometimes they even attempt suicide. A rudimentary uterus (without a cervix) can be adjacent to the main uterus, and can also be intimately connected to it without communication between the cavities of these uteruses

yourself. In this situation, in the presence of a functioning endometrium, a disturbance in the outflow of menstrual blood from the cavity of the rudimentary uterus (horn) occurs. Blood accumulating in the uterus leads to the formation of hematometra and hematosalpinx on the side of the horn.

Diagnostics

Step-by-step diagnosis includes a thorough examination of the medical history, gynecological examination (vaginoscopy and rectoabdominal examination), ultrasound and MRI of the pelvic organs and kidneys, hysteroscopy and laparoscopy.

Anamnesis

Diagnosis of malformations of the uterus and vagina presents significant difficulties. Doctors' insufficient knowledge of this pathology leads to the fact that, based on the data of the clinical picture and gynecological examination, when the uterus and vagina are doubled with partial aplasia of one of them, erroneous diagnoses are often made, such as: Gardner's cyst, paraurethral cyst, paravaginal cyst, retroperitoneal formation, vaginal tumor, tumor of the cervix, ovary (with torsion), ovarian dysfunction, acute appendicitis, acute abdomen, recurrent nonspecific vulvovaginitis, etc.

Among unjustified surgical interventions, the most frequently performed are dissection of the “atretic” hymen, puncture and drainage of the hematocolpos, bougienage of the “stricture” of the vagina, diagnostic laparotomy, at best laparoscopy, puncture of hematometra, attempts at metroplasty, removal of the uterine appendages or tubectomy, appendectomy, attempts to remove “ non-functioning kidney, ovarian resection.

Physical examination

With complete aplasia of the vagina and uterus, the structure of the external genitalia in patients also has its own characteristics. The external opening of the urethra is often expanded and displaced downward (can be mistaken for an opening in the hymen).

The vestibule of the vagina can be represented by several structural options. It may have:

smoothed surface from the urethra to the rectum;

appearance of the hymen without a depression in the perineum;

type of hymen with a hole through which a blindly ending vagina 1-3 cm long is determined;

the appearance of a capacious, blindly ending canal in patients who are sexually active (as a result of natural colpoelongation).

A rectoabdominal examination shows the absence of the uterus in the pelvic cavity. In patients with asthenic physique, it is possible to palpate one or two muscle ridges.

With atresia of the hymen, in some cases, the diagnosis is made in infant girls in the presence of bulging of the perineal tissue in the area of ​​the hymen as a result of the formation of mucocolpos.

However, clinical symptoms are mainly detected at puberty. During a gynecological examination, one can detect bulging of the imperforate hymen and translucency of the dark contents. During a rectoabdominal examination, a formation of a tight or soft-elastic consistency is determined in the pelvic cavity, at the top of which a denser formation, the uterus, is palpated.

In patients with complete or incomplete vaginal aplasia with a functioning rudimentary uterus, during a gynecological examination, the absence of the vagina or the presence of only its lower part for a short distance is noted. During a rectoabdominal examination, a sedentary spherical formation is palpated in the pelvis, sensitive to palpation and attempts to displace (the uterus). The cervix is ​​not detected. In the area of ​​the appendages, retort-shaped formations (hematosalpinxes) are often found.

In girls with vaginal aplasia and a fully functioning uterus, a rectoabdominal examination at a distance of 2 to 8 cm from the anus (depending on the level of vaginal aplasia) reveals the formation of a tight-elastic consistency (hematocolpos), which can extend beyond the pelvis. This formation is also determined by palpation of the abdomen. At the same time, the lower the level of the aplastic part of the vagina, the larger the size hematocolpos can reach. At the same time, as noted above, hematometra occurs later, and, consequently, the pain syndrome is less pronounced. At the top of the hematocolpos, a denser formation (uterus) is palpated, which can be increased in size (hematometra). In the area of ​​the appendages, retort-shaped formations (hematosalpinxes) are sometimes identified.

In the presence of a rudimentary closed uterine horn, one vagina and one cervix are visually identified, but during a rectoabdominal examination, a small painful formation is palpated near the uterus, increasing during menstruation; on its side there is a hematosalpinx. A distinctive feature of this type of defect: detection of kidney aplasia on the side of the rudimentary horn in 100% of cases.

During vaginoscopy in patients with uterine duplication and aplasia of one of the vaginas, one vagina, one cervix, and a protrusion of the lateral or superolateral vaginal wall are visualized. If the protrusion is significant, the cervix may not be accessible for inspection. During a rectoabdominal examination, a tumor-like formation of tight-elastic consistency is determined in the pelvis, immobile, slightly painful, the lower pole of which is located 2-6 cm above the anus (depending on the level of vaginal aplasia), the upper pole sometimes reaches the umbilical region. It was noted that the lower the level of aplasia of one of the vaginas (determined by the lower pole of the hematocolpos), the less pronounced the pain syndrome. This is due to the greater capacity of the vagina during aplasia of its lower third, its later overstretching and the formation of hematometra and hematosalpinx.

Laboratory research

Laboratory studies are not very informative for identifying the type of malformation of the uterus and vagina, but are necessary to clarify the background conditions and diseases, in particular the state of the urinary system.

Instrumental studies

During ultrasound, in patients with complete aplasia of the vagina and uterus, the uterus is completely absent in the small pelvis, or it is determined in the form of one or two muscle ridges. The size of the ovaries often corresponds to the age norm and are located high near the walls of the small pelvis. In patients with vaginal aplasia with a rudimentary functioning uterus, ultrasound reveals the absence of the cervix and vagina and the presence of hematosalpinxes. In patients with a full uterus, an echographic picture of hematocolpos and, quite often, hematometers are observed. They look like echo-negative formations filling the pelvic cavity.

A rudimentary horn is visualized on an echogram as a rounded formation with a heterogeneous internal structure, adjacent to the uterus. At the same time, with this type of defect, the ultrasound picture cannot always be correctly interpreted, regarding it as the presence of an intrauterine septum, bicornuate uterus, torsion of an ovarian cyst, a nodular form of adenomyosis, etc. MRI and hysteroscopy have high diagnostic value in this situation.

During hysteroscopy, only one opening of the fallopian tube is detected in the uterine cavity. MRI allows you to determine the type of defect with an accuracy approaching 100%. It should be noted that, despite

high diagnostic value of spiral CT, this study is associated with radiation exposure to the body, which is extremely undesirable at puberty.

Differential diagnosis

A differential diagnosis of complete aplasia of the vagina and uterus must be carried out with various variants of delayed sexual development, primarily of ovarian origin (gonadal dysgenesis, GTF). It must be remembered that patients with aplasia of the vagina and uterus are characterized by the presence of a normal female karyotype (46, XX) and the level of sex chromatin, female phenotype (normal development of the mammary glands, hair growth and development of the external genitalia according to the female type).

Differential diagnosis of defects associated with impaired outflow of menstrual blood should be carried out with adenomyosis (uterine endometriosis), functional dysmenorrhea and acute PID.

Indications for consultation with other specialists

If pathology of the kidneys and urinary system is detected, consultation with a urologist or nephrologist is necessary.

An example of a diagnosis formulation

Rokitansky-Küster syndrome.

Duplication of the uterine body with doubling of the cervix and vagina with a closed right vagina. Hematocolpos.

Hematometra. Hematosalpinx. Aplasia of the right kidney.

Bicornuate uterus.

Unicornuate uterus.

The hymen completely covers the entrance to the vagina.

Treatment

Treatment Goals

In patients with aplasia of the vagina and uterus or with impaired outflow of menstrual blood, it is necessary to create an artificial vagina.

Indications for hospitalization

Pain syndrome or surgical correction of malformations of the uterus and vagina.

Non-drug treatment

In patients with aplasia of the vagina and uterus, so-called bloodless colpopoiesis can be used using colpoelongators. When carrying out colpoelongation according to Sherstnev, an artificial vagina is formed by stretching the mucous membrane of the vestibule of the vagina and deepening the existing or formed during the procedure “pit” in the vulva area using a protector (colpoelongator). The patient regulates the degree of pressure of the device on the tissue with a special screw, taking into account her own sensations. The patient carries out the procedure independently under the supervision of medical personnel.

This technique was improved by E.V. Uvarova in the Department of Gynecology of Children and Adolescents of the State Institution NTsAGiP RAMS. Currently, the procedure is carried out with the simultaneous use of Ovestin cream and Contractubex gel to improve the extensibility of the tissues of the vaginal vestibule. The undeniable advantages of colpoelongation are the conservative nature of the method, as well as the absence of the need to begin sexual activity immediately after its cessation.

The duration of the first procedure is on average 20 minutes. Subsequently, the time is increased to 30-40 minutes. One course of colpoelongation includes about 15-20 procedures, starting from one with the transition after 1-2 days to two procedures per day. Typically, 1 to 3 courses of colpoelongation are performed with an interval of about 2 months.

In the vast majority of cases in patients with aplasia of the vagina and uterus, colpoelongation can achieve a positive effect (formation of a stretchable neovagina that allows 2 transverse fingers to penetrate to a depth of at least 10 cm). If conservative treatment is ineffective, colpopoiesis surgery from the pelvic peritoneum is indicated.

Drug treatment

Do not use for developmental defects of the uterus and vagina.

Surgery

In patients with aplasia of the vagina and uterus, surgical colpopoiesis is used.

The first reports of attempts to perform this operation date back to the beginning of the 19th century, when Dupuitren in 1817 tried to create a canal in the rectovesical tissue using a sharp and blunt method. Before the introduction of endoscopic technologies into medicine, colpopoiesis surgery was accompanied by an extremely high risk of intra and postoperative complications.

To prevent overgrowth of the created rectourethral opening, they tried to perform long-term tamponade and dilatation, and insert prostheses (Hegar dilators made of silver and stainless steel) into the created tunnel between the bladder and rectum. However, these procedures were extremely painful for patients and not effective enough. Later, numerous variants of colpopoiesis were performed with the transplantation of skin flaps into the created tunnel. After such operations, cicatricial wrinkling of the neovagina often occurred, as well as necrosis of the implanted skin flaps.

V.F. Snegirev in 1892 performed an operation of colpoiesis from the rectum, which was not widely used due to the great technical complexity, high frequency of intra and postoperative complications (formation of rectovaginal and pararectal fistulas, rectal strictures). Later, methods of colpopoiesis from the small and large intestines were proposed.

Until now, some surgeons use the operation of sigmoid colpopoiesis. Its advantages include the possibility of performing this surgical intervention long before the onset of sexual activity when a defect is detected in childhood. It should be noted that the negative aspects of this type of colpopoiesis are considered to be its extreme traumatic nature (the need to perform transection, isolation and reduction of a section of the sigmoid colon), the occurrence in a large number of operated patients of prolapse of the walls of the neovagina, complications of an inflammatory nature, up to peritonitis, abscesses and intestinal obstruction, cicatricial narrowing of the vaginal opening.

The consequence of this may be refusal of sexual activity. A psychotraumatic situation for patients is discharge from the genital tract with a characteristic intestinal odor and frequent vaginal prolapse during sexual intercourse. This method is of historical interest only.

In modern conditions, the “gold standard” of surgical colpoiesis in patients with aplasia of the vagina and uterus is considered to be colpoiesis from the pelvic peritoneum with laparoscopic assistance. In 1984 N.D. Selezneva and her colleagues first proposed colpopoiesis from the pelvic peritoneum with laparoscopic assistance, using the “luminous window” principle, the technique of which was improved in 1992 by L.V. Adamyan.

This surgical intervention is performed by two teams of surgeons: one performs the endoscopic stages, the second - the perineal stage. Under endotracheal anesthesia, diagnostic laparoscopy is performed, during which the condition of the pelvic organs, the mobility of the peritoneum of the vesico-rectal recess are assessed, and attention is paid to the number and location of muscle ridges.

The second team of surgeons begins the perineal stage of the operation: the skin of the perineum is dissected along the lower edge of the labia minora at a distance of 3-3.5 cm in the transverse direction between the rectum and the bladder at the level of the posterior commissure. Using a sharp and mostly blunt method, a channel is created in a strictly horizontal direction, without changing the angle. This is the most critical stage of the operation due to the possibility of injury to the bladder and rectum. The canal is formed to the pelvic peritoneum.

The next important stage of the operation is the identification of the peritoneum. It is carried out using a laparoscope by illuminating (diaphanoscopy) the parietal peritoneum from the abdominal cavity and bringing it in with soft forceps or a manipulator. The peritoneum is grasped in the tunnel with clamps and cut with scissors. The edges of the peritoneal incision are brought down and sutured with separate vicryl sutures to the edges of the skin incision, forming the entrance to the vagina.

The last stage of the operation - the formation of the neovagina dome is carried out laparoscopically by applying purse-string sutures to the peritoneum of the bladder, muscle ridges (rudiments of the uterus) and the peritoneum of the side walls of the small pelvis and sigmoid colon. The place for creating a neovagina dome is usually chosen at a distance of 10-12 cm from the skin incision of the perineum.

For 1-2 days, a gauze swab with petroleum jelly or levomekol is inserted into the neovagina. The onset of sexual activity is possible 3-4 weeks after the operation, and regular sexual intercourse or artificial bougienage in order to maintain the lumen of the neovagina is considered a prerequisite for preventing the adhesion of its walls.

Long-term results showed that almost all patients were satisfied with their sex life. During a gynecological examination, there is no visible border between the vestibule of the vagina and the created neovagina; the length (11-12 cm), extensibility and capacity of the vagina are quite sufficient. Moderate folding of the vagina and a small amount of mucous discharge from it are noted.

It should be noted that in the presence of defective rudimentary but functioning uteruses and pain syndrome, usually caused by endometriosis (according to MRI and subsequent histological examination), simultaneously with performing colpopoiesis from the pelvic peritoneum, endometriotic foci are removed. Removal of functioning muscle bands (cords) is possible in case of severe pain syndrome in young patients without colpopoiesis. Colpopoiesis is performed at the second stage of treatment: surgical (from the pelvic peritoneum before the onset of sexual activity) or conservative (colpoelongation according to Sherstnev).

A similar treatment tactic is considered the only reasonable method for correcting vaginal aplasia in patients with a rudimentary functioning uterus. To choose a method of surgical correction, it is necessary to have a clear understanding of the anatomical and functional usefulness of the uterus. A functioning uterus with aplasia of the cervix or cervical canal is considered a rudimentary, underdeveloped organ, unable to fully carry out its reproductive function. In this case, there is no need to preserve such a uterus at any cost. All attempts to preserve the organ and create an anastomosis between the uterus and the vestibule of the vagina using sigmoid or peritoneal colpoiesis were unsuccessful due to the development of severe postoperative infectious complications that required repeated operations. In modern conditions, extirpation of a functioning rudimentary uterus with vaginal aplasia can be performed laparoscopically.

Stages of extirpation of a functioning rudimentary uterus using laparoscopic access:

diagnostic laparoscopy (revision of the pelvis, hysterotomy, opening and emptying of hematomas, retrograde hysteroscopy, confirming the absence of continuation of the uterine cavity into the lumen of the cervical canal);

creation of a canal to a functioning rudimentary uterus and pelvic peritoneum using perineal access;

extirpation of a functioning rudimentary uterus using laparoscopic access (intersection of the uterine ligaments, fallopian tubes, proper ovarian ligaments, opening of the vesicouterine fold, intersection of the uterine vessels, cutting off the uterus);

colpopoiesis from the pelvic peritoneum for patients who are ready to begin sexual activity (for patients who do not plan sexual intercourse, colpoelongation can be performed after surgery and healing of the sutures).

It should be noted that in a certain number of operated patients with vaginal aplasia and a rudimentary uterus, a histological examination of the removed organ reveals a non-functioning endometrium and adenomyosis and numerous endometrioid heterotopias are detected in the thickness of the rudimentary uterus, which, apparently, is the cause of severe pain.

Unfortunately, girls with vaginal aplasia (partial or complete) and a functioning uterus with symptoms of an “acute abdomen” are often misdiagnosed (acute appendicitis) and undergo inadequate surgical interventions (appendectomy, diagnostic laparotomy or laparoscopy, removal or resection of the uterine appendages, erroneous and harmful dissection of the seemingly “atretic” hymen, etc.). Surgical interventions involving puncture and drainage of hematocolpos, including subsequent bougienage of the aplastic part of the vagina, are considered unacceptable interventions. They not only do not eliminate the cause of the disease, but also make it difficult to carry out its adequate correction in the future due to the development of an infectious process in the abdominal cavity (pyocolpos, pyometra, etc.) and cicatricial deformation of the vagina.

Currently, the optimal way to correct incomplete vaginal aplasia with a functioning uterus is considered to be vaginoplasty using the sliding flap method. In order to reduce the risk of complications associated with the operation, objective assessment of the condition of the uterus and appendages, and, if necessary, correction of concomitant gynecological pathology, it is advisable to perform vaginoplasty with laparoscopic assistance.

In addition, the creation of pneumoperitoneum helps to shift the lower edge of the hematocolpos downward, which, even if it is insufficiently filled, greatly facilitates the operation.

Stages of vaginoplasty using the sliding flap method:

the vulva is dissected crosswise and the flaps are mobilized over a length of 2-3 cm;

create a tunnel in the retrovaginal tissue to the lower pole of the hematocolpos. This stage of the operation is the most difficult and responsible due to the risk of injury to the bladder and rectum. The degree of risk depends on the level of location of the aplastic part of the vagina;

mobilize the lower pole of the hematocolpos over 2-3 cm from the underlying tissues;

make a cross-shaped incision of the lower pole of the hematocolpos (at an angle of 45° relative to the straight cross-shaped incision);

the hematocolpos is punctured and emptied, the vagina is washed with an antiseptic solution, and the cervix is ​​visualized;

connect the edges of the vulva and the lower edge of the emptied hematocolpos using a “wedge in groove” type (according to the “gear teeth” principle).

After the operation, a loose tampon soaked in petroleum jelly is inserted into the vagina, followed by daily sanitation of the vagina and re-insertion of the tampon for 2-3 days.

If there is a functioning closed uterine horn, the rudimentary uterus and hematosalpinx are removed from laparoscopic access. To reduce trauma to the main uterus in situations where the rudimentary uterus is intimately connected to the main one, L.V. Adamyan and M.A. Strizhakova (2003) developed a method for surgical correction of a closed functioning horn located in the thickness of the main uterus. The method consists of laparoscopy, retrograde hysteroresectoscopy and resection of the endometrium of a closed functioning uterine horn.

Surgical treatment for duplication of the uterus and vagina with partial aplasia of one of them consists of dissecting the wall of a closed vagina and creating a connection between it and the functioning vagina under laparoscopic control:

vaginal stage:

— opening of hematocolpos;

— emptying of hematocolpos;

—washing the vagina with an antiseptic solution;

—excision of the closed vaginal wall (creation of an “oval window” measuring 2 cmx2.5 cm);

laparoscopic stage:

— clarification of the relative position of the uterus, the condition of the ovaries, fallopian tubes;

— control of hematocolpos emptying;

— emptying the hematosalpinx;

— identification and coagulation of foci of endometriosis;

- Sanitation of the abdominal cavity.

In girls with atresia of the hymen, under local anesthesia, it is dissected and the hematocolpos is emptied.

Approximate periods of incapacity for work

The disease does not cause permanent disability. Possible periods of incapacity from 10 to 30 days may be determined by the rate of convalescence after the necessary surgical interventions.

Further management

In patients with aplasia of the vagina and uterus in the absence of a regular sexual partner, it is advisable to periodically repeat colpoelongation courses (2-3 times a year) in order to prevent neovaginal stricture after surgical colpopoiesis. After surgical correction of the vagina and uterus in patients with vaginal aplasia and a functioning uterus, clinical examination is indicated once every 6 months until the age of 18 years in order to timely diagnose cicatricial changes in the vagina.

Information for the patient

The absence of independent menstruation at the age of 15 years and older, the presence of cyclical, increasing intensity pain in the lower abdomen with menarche is considered an indication for consultation with a gynecologist in childhood and adolescence for the timely detection of malformations of the uterus and vagina. With severe pain at first

sexual intercourse or the complete impossibility of sexual activity, attempts at sexual intercourse should be stopped in order to avoid penetrating mutilating ruptures of the perineum and urethra with vaginal aplasia.

Forecast

Patients who promptly consult a gynecologist in a qualified institution equipped with modern high-precision diagnostic and surgical equipment have a favorable prognosis for the course of the disease. Patients with aplasia of the vagina and uterus in the context of the development of assisted reproduction methods are not considered completely infertile, since they have the opportunity to use the services of surrogate mothers under the IVF and ET program.

Bibliography

Adamyan L.V., Bogdanova E.A. Operative gynecology for children and adolescents / L.V. Adamyan, E.A. Bogdanova. - M.: ElixKom, 2004. — 206 p.

Adamyan L.V. Malformations of the uterus and vagina / L.V. Adamyan, V.I. Kulakov, A.Z. Khashukoeva. - M.: Medicine, 1998. -320 p.

Adamyan L.V. Anomalies of the genitourinary system - stages of embryogenesis / L.V. Adamyan, Z.N. Makiyan // Endoscopy and alternative approaches in the surgical treatment of female diseases. - M., 2001.

Bogdanova E.A. Gynecology of children and adolescents / E.A. Bogdanov. - M.: MIA, 2000. - 332 p.

Kulakov V.I. Clinical significance of the use of magnetic resonance imaging in girls with genital malformations / V.I. Kulakov and others; Ed. A.N. Strizhakova // Problems of obstetrics, gynecology and perinatology: collection. scientific tr. - M., 2002. - P. 112-118.

– violations of the shape, size, localization, number, symmetry and proportions of the internal and external genital organs. The cause is unfavorable heredity, intoxication, infectious diseases, early and late gestosis, hormonal disorders, occupational hazards, stress, poor nutrition, poor environment, etc. The diagnosis is established on the basis of complaints, anamnesis, external examination, gynecological examination and instrumental results research. Therapeutic tactics are determined by the characteristics of the developmental defect.

General information

Anomalies of the female genital organs are disorders of the anatomical structure of the genital organs that arose during the period of intrauterine development. Usually accompanied by functional disorders. They account for 2-4% of the total number of birth defects. In more than 40% of cases they are combined with anomalies of the urinary system. Patients may also have lower gastrointestinal malformations, congenital heart defects, and musculoskeletal abnormalities.

The frequent combination of anomalies of the female genital organs with other congenital defects necessitates a thorough comprehensive examination of patients with this pathology. Congenital defects of the external genitalia are usually detected at birth. Anomalies of the internal genital organs can be detected during menarche, during a routine gynecological examination, when visiting a gynecologist with complaints about dysfunction of the reproductive system (for example, infertility) or during gestation. Treatment is carried out by specialists in the field of gynecology.

Classification of anomalies of female genital organs

Taking into account anatomical features, the following types of birth defects of the female reproductive system are distinguished:

• Absence of an organ: complete – agenesis, partial – aplasia.
• Violation of the lumen: complete fusion or underdevelopment - atresia, narrowing - stenosis.
• Change in size: decrease - hypoplasia, increase - hyperplasia.

An increase in the number of entire organs or their parts is called multiplication. Doubling is usually observed. Anomalies of the female genitalia, in which individual organs form an integral anatomical structure, are called fusion. If the organ is located in an unusual location, it is called ectopia. Depending on the severity, there are three types of anomalies of the female genital organs. The first is the lungs, which do not affect the functions of the genitals. The second is of moderate severity, having a certain effect on the functions of the reproductive system, but not excluding childbearing. The third is severe, accompanied by gross disorders and incurable infertility.

Causes of abnormalities of the female genital organs

This pathology occurs under the influence of internal and external teratogenic factors. Internal factors include genetic disorders and pathological conditions of the mother’s body. Such factors include all kinds of mutations and burdened heredity of unknown etiology. The patient's relatives may have developmental defects, infertile marriages, multiple miscarriages and high infant mortality.

The list of internal factors that cause abnormalities of the female genital organs also includes somatic diseases and endocrine disorders. Some experts in their studies mention the age of parents over 35 years. Among the external factors contributing to the development of abnormalities of the female genital organs are drug addiction, alcoholism, taking a number of medications, poor nutrition, bacterial and viral infections (especially in the first trimester of gestation), occupational hazards, household poisoning, unfavorable environmental conditions, ionizing radiation , being in a war zone, etc.

The immediate cause of abnormalities of the female genital organs is disorders of organogenesis. The most severe defects occur due to adverse effects in the early stages of gestation. The formation of paired Müllerian ducts occurs in the first month of gestation. At first they look like cords, but in the second month they transform into canals. Subsequently, the lower and middle parts of these canals merge, the uterine rudiment is formed from the middle part, and the vaginal rudiment is formed from the lower part. At 4-5 months, the body and cervix are differentiated.

The fallopian tubes, originating from the upper, unfused part of the Müllerian ducts, are formed at 8-10 weeks. The formation of the tubes is completed by week 16. The hymen comes from the lower part of the fused ducts. The external genitalia are formed from the skin and the urogenital sinus (anterior part of the cloaca). Their differentiation occurs at 17-18 weeks of gestation. The formation of the vagina begins at 8 weeks, its increased growth occurs at 19 weeks.

Variants of anomalies of female genital organs

Abnormalities of the external genitalia

Malformations of the clitoris can manifest themselves in the form of agenesis, hypoplasia and hypertrophy. The first two defects are extremely rare anomalies of the female genital organs. Clitoral hypertrophy is found in congenital adrenogenital syndrome (congenital adrenal hyperplasia). Severe hypertrophy is considered an indication for surgical correction.

Anomalies of the vulva, as a rule, are detected as part of multiple malformations, combined with congenital defects of the rectum and lower parts of the urinary system, which is due to the formation of these organs from the common cloaca. Anomalies of the female genital organs may be observed, such as hypoplasia of the labia majora or vaginal fusion, which may or may not be combined with fusion of the anus. Rectovestibular and rectovaginal fistulas are common. Surgical treatment – ​​labiaplasty, vaginalplasty, excision of the fistula.

Anomalies of the hymen and vagina

Abnormalities of the ovaries and fallopian tubes

Quite common anomalies of the fallopian tubes are congenital obstruction and various variants of tube underdevelopment, usually combined with other signs of infantilism. Anomalies of the female genital organs that increase the risk of developing an ectopic pregnancy include asymmetrical fallopian tubes. Malformations such as aplasia, complete duplication of tubes, splitting of tubes, blind passages and additional holes in tubes are rarely detected.

Ovarian abnormalities usually occur due to chromosomal abnormalities, combined with birth defects or disruption of the functioning of other organs and systems. Ovarian dysgenesis is observed in Klinefelter syndrome. Agenesis of one or both gonads and complete duplication of the ovaries are among the extremely rare anomalies of the female genital organs. Possible ovarian hypoplasia, usually combined with underdevelopment of other parts of the reproductive system. Cases of ovarian ectopia and the formation of additional gonads adjacent to the main organ have been described.

The development of pregnancy in an abnormal fallopian tube is an indication for emergency tubectomy. With normally functioning ovaries and abnormal tubes, pregnancy is possible through in vitro fertilization of an egg taken during follicle puncture. In cases of ovarian anomaly, it is possible to use reproductive technologies with fertilization

Congenital malformations of the external and internal genitalia account for 1 to 4% of cases of gynecological diseases in children and adolescents. About a third of the defects are associated with obstruction of the vagina and cervix. Congenital obstruction of the vagina and cervix means aplasia (absence of part or the entire organ) or atresia (septum less than 2 cm in length), which prevents the outflow of menstrual blood and subsequent sexual activity. If there is a hole in the septum, the fistulous form of atresia is diagnosed.

Obstruction of the vagina and cervix becomes a consequence of the influence of genetic, endocrine, exogenous factors and is associated with a violation of embryogenesis. Normally, the proximal Müllerian ducts do not fuse to form the fallopian tubes, while the distal Müllerian ducts fuse to form the uterus and proximal vagina. The distal part of the vagina is formed as a result of complex interactions between the caudal part of the fused Müllerian ducts, the urogenital sinus and the cloaca. Depending on the area where such confluence and sewerage did not occur, one or another developmental defect occurs. Anomalies in the development of the reproductive system are often accompanied by malformations of the urinary tract.

Pathogenesis (what happens?) during Malformations of the genital organs:

Classification of obstruction of the vagina and cervix

• Atresia of the hymen.
• Vaginal atresia (complete, fistulous):
  • proximal;
  • distal.
• Vaginal aplasia:
  • upper section;
  • middle section;
  • middle and lower sections;
  • upper and middle sections;
  • total.
• Obstruction of the cervix.
  • Atresia of the cervical canal (entire or external os).
  • Aplasia of the cervix (entire or vaginal part).
• Vaginal obstruction in combination with pathology of the lower urinary tract.

Symptoms of Genital Malformations:

The clinic of congenital obstruction of the vagina and cervix manifests itself, as a rule, with the onset of menstruation and the formation of hematocolpos or hematometra. It is extremely rare that defects are diagnosed before puberty due to the lack of complaints in little girls. However, in infants, as a result of stimulation of the vaginal and cervical glands by maternal estrogens, the vagina may fill and stretch with mucus, forming mucocolpos (fluorocolpos). Mucocolpos has no characteristic symptoms, is difficult to diagnose, and is detected incidentally during the examination of a child for restlessness, usually associated with urination, an abdominal mass, or associated developmental defects. With significant stretching of the vagina, obstruction and hydronephrotic transformation of the upper urinary tract are possible. In adolescence, obstruction of the vagina and cervix leads to blood stretching of the genital tract with acute, cyclically recurring abdominal pain, with which girls often end up in surgical clinics. With hematocolpos, the pain is aching, and the hematometra manifests itself as spastic pain, sometimes with loss of consciousness.

Fistulous (incomplete) forms of vaginal atresia, both in early and teenage years, are often accompanied by ascending infection and the formation of pyocolpos. Clinically, the fistulous form of atresia with pyocolpos is manifested by periodic purulent discharge, the cause of which is difficult to determine. Pyocolpos, which has communication with the external environment, is usually not accompanied by a pronounced deterioration of the condition, an increase in temperature, or expansion of the uterine cavity and cervical canal. Non-draining pyocolpos is rarely isolated. As a rule, pyometra, pyosalpinx and reflux of pus into the abdominal cavity develop rapidly. Then the symptoms of an “acute abdomen” increase, the patient’s general condition worsens, and the temperature reaches febrile values. An ascending infection sometimes develops so quickly that even emergency colpotomy does not save patients from peritonitis and hysterectomy.

Diagnosis of genital malformations:

Diagnosis of simple variants of the defect is not difficult. A standard examination for suspected obstruction of the vagina and cervix, in addition to general clinical and laboratory tests, includes anamnesis, assessment of physical and sexual development, examination of the external genitalia, bacteriological and bacterioscopic examination of discharge from the genital tract, rectal-abdominal examination, vaginal probing, ultrasound reproductive and urinary systems. As a rule, these studies are sufficient to accurately determine the type of defect and choose the method of surgical intervention.

On objective examination, the vaginal vestibule and hymen appear normal. Even with total aplasia of the vagina, its vestibule is preserved. Only with atresia of the hymen does its appearance differ from the usual one. When pressing on the anterior abdominal wall above the pubis, the hymen bulges in the form of a cyanotic dome.

Bacteriological and bacterioscopic examination of discharge from the genital tract provides significant information mainly in case of fistulous vaginal atresia, when purulent discharge serves as an indirect diagnostic sign, and test results are necessary for rational antibacterial therapy.

A round, elastic, low-painful and inactive formation palpated during rectal-abdominal examination, pushing the uterus upward, is usually a hematocolpos. Pressure on the hematocolpos is transmitted through the rectum to the uterus and is felt upon palpation above the womb. The displacement of hematocolpos is limited; how does it differ, for example, from an ovarian cyst, which has a similar location, consistency and shape.

Vaginal probing is aimed at determining the depth of the lower part of the vagina and is carried out simultaneously with a rectal-abdominal examination. The distance from the top of the vaginal dome to the bottom of the hematocolpos allows you to accurately determine the diastasis between the sections of the vagina, assess the reserves of plastic material and outline the surgical plan. The distal part of the vagina is often represented by one vestibule and has a depth of about 1-2 cm. Less often, the depression behind the hymen is less than 1 cm.

Ultrasound examination (ultrasound) of the internal genitalia documents the correct interpretation of clinical data. The study is carried out with a full bladder with the sensor located above the pubis and in the perineum. At the same time, the organs of the abdominal cavity and retroperitoneal space are examined. Ultrasound allows you to reliably determine the size of the uterus and its cavity, the thickness of the endometrium, the size and thickness of the walls of the hematocolpos, the distance from its bottom to the skin of the perineum. At the same time, the reliability of ultrasound is quite high only in diagnosing the simplest forms of the defect - low vaginal atresia without organ duplication. In all doubtful cases - if there is a discrepancy between the history, clinical picture and examination results, ultrasound data should be checked by other methods - endoscopy, magnetic resonance imaging (MRI). In some observations, laparoscopy and vaginography are the most informative.

In the diagnosis of complex or atypical vaginal malformations, preference should be given to magnetic resonance imaging. No special preparation is required for MRI. The study is carried out with the patient in the supine position in frontal, sagittal and axial projections. For vaginal atresia and aplasia, the most informative for clarifying the anatomical structure is the sagittal projection, which makes it possible to accurately determine the amount of diastasis between the vaginal sections, the size of the hematometra and hematocolpos, and to assess the condition of the cervix. However, when the vagina and uterus are duplicated, sagittal sections do not allow one to easily reconstruct the anatomical relationships of the organs. In the case of duplication of the reproductive tract, a study in the frontal projection is more informative. In recognizing many complex anomalies of the internal genital organs, MRI provides the most valuable information that predetermines the choice of surgical intervention.

Ultrasound and MRI data for fistulous vaginal obstruction may vary depending on the time of the study and the degree of filling of the vagina with contents. Evacuation usually occurs during a rectal-abdominal examination. Pyocolpos may empty spontaneously during anti-inflammatory therapy. Erroneous interpretation of MRI data is possible with an “empty” vagina.

In diagnosing an “empty” vagina in fistulous forms of atresia, vaginography is more informative than ultrasound and MRI. Before the advent of ultrasound and MRI, vaginography was the only examination of the vaginal cavity above the level of obstruction. However, vaginography is associated with a high risk of infection of the proximal vagina with closed hematocolpos. Currently, vaginography is advisable to use only in the fistulous form of vaginal atresia as a documentation study.

Endoscopic examinations of the lower urinary tract (sinus-urethrocystoscopy), as well as urodynamic studies, are indicated for children with combined genitourinary pathology (iatrogenic urethral damage, persistent urogenital sinus, cloacal anomalies).

Thus, clarification of the anatomy of the malformation, necessary for choosing surgical tactics, is possible only with a comprehensive examination, including radiological and endoscopic methods. MRI remains the most informative clinical method for studying the pelvic organs.

Diagnostic difficulties in case of obstruction of the vagina and cervix are confirmed by the high frequency and variety of diagnostic errors made by both gynecologists and doctors of other specialties.

The primary stage of diagnosis for congenital obstruction of the vagina and cervix almost always causes difficulty and rarely ends in establishing the correct diagnosis. The disease often manifests itself quite unexpectedly, beginning with acute abdominal pain, urinary retention or the appearance of a tumor-like formation in the abdominal cavity, which often causes urgent laparotomy.

Many adolescent girls with congenital vaginal obstruction first undergo an appendectomy for suspected acute appendicitis before being properly diagnosed. This is due to sharp abdominal pain, which often leaves the surgeon in no doubt about the need for emergency surgery. Ultrasound allows you to avoid unnecessary appendectomies.

Incorrect diagnosis of mucocolpos in infants can lead to serious consequences. Suspicion of a tumor or cyst in the abdominal cavity provokes the surgeon to perform a wide laparotomy with removal of the upper part of the vagina.

Acute urinary retention or pus in the urine (pyuria), which occurs with fistulous pyocolpos, requires a urological examination. A child can become a “traveler” for a long time in urological hospitals.

Errors often occur with complete doubling of the uterus and aplasia or atresia of one half of the doubled vagina. It is most difficult to determine the second closed vagina when there are two kidneys, since complete doubling of the uterus and an additional closed rudimentary vagina are accompanied by agenesis of one kidney.

Due to acute pain in the lower abdomen with vaginal obstruction, the hematocolpos is often opened and its contents are evacuated. Such an intervention, especially with high hematocolpos, is associated with a significant risk of damage to the urethra, bladder and rectum and can lead to the development of pyocolpos, pyometra and peritonitis. There are no emergency indications for emptying hematocolpos. The female genital tract has great adaptive capabilities, and pain therapy (baralgin, maxigan) is often sufficient to relieve or relieve pain. Surgical interventions can only be performed by specialists, preferably in patients during the intermenstrual period.

Treatment of genital malformations:

For atresia of the hymen, surgical treatment under general anesthesia is indicated - traditional cruciform dissection of the hymen. After evacuating the contents of the hematocolpos, a tampon is inserted into the vagina for the purpose of hemostasis, which is removed after 1 day. In the future, it is recommended to rinse the vagina with a 3% solution of hydrogen peroxide or antiseptics for 7-10 days.

Surgical treatment of congenital obstruction of the vagina and cervix is ​​a serious challenge, requires the use of local tissues and makes it possible to achieve normal vaginal patency in all types of anomalies without the use of intestinal, peritoneal and cutaneous colpoiesis. Reconstruction of the vagina is intended to create conditions for the unhindered outflow of menstrual flow, to ensure the possibility of normal sexual life, and the onset and gestation of pregnancy. Restoring the patency of the vagina and cervix, preserving existing anatomical structures and reconstructing missing areas of the vagina constitute the meaning and objectives of treatment.

Having discovered vaginal obstruction, the doctor does not always have to immediately “get to work.” If the lack of plastic material is obvious - small size of the hematocolpos, large diastasis between the existing sections of the vagina, surgical treatment should be postponed and the possibilities of attracting additional plastic resources should be weighed. It is better to compensate for tissue deficiency by artificially stretching the lower part of the vagina, and therefore increasing the size of the hematocolpos during subsequent menstruation. The distal part of the vagina is stretched with Hegar dilators No. 19-24 using estrogen-containing ointments, which improve the plastic properties of the tissues of the external genitalia and vagina, for 2-4 menstrual cycles.

Vaginal plastic surgery is performed according to the principles of plastic surgery using paraboloid flaps with a wide feeding base, atraumatic inert material, and careful handling of tissues. Aplasia of the middle and lower parts of the vagina represents the most difficult form of developmental defect for surgical treatment.

Surgical interventions in patients with cervical obstruction are performed according to similar principles. Good exposure of the cervix is ​​achieved using the posterior sagittal pararectal approach. Anastomoses of the cervix with the vagina are formed using flaps and partial dissection of the cervical canal to form an extended line of connection.

When the uterus and vagina are doubled, one of which is closed and rudimentary, excision of the intervaginal septum is required. During the operation, it is necessary to strive for its maximum excision.

Efficacy and prognosis. A set of diagnostic methods and surgical treatment makes it possible to achieve normal vaginal patency and volume in all types of anomalies.

Which doctors should you contact if you have genital malformations:

Gynecologist

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Other diseases from the group Diseases of the genitourinary system:

Anomalies of the vulva and hymen. A continuous hymen can be detected mainly during puberty. When the first menstruation appears and there is no natural outlet, menstrual blood accumulates in the vagina, hematocolpos, hematometra and sometimes even hematosalpinx are formed. The pathological process is clinically manifested by the occurrence of pain in those places where blood accumulates, as well as the absence of menstruation.

Anomalies of vaginal development. Complete absence (agenesis) - in the place where the entrance to the vagina should be, you can see a small depression of about 2-3 cm. The absence of part (aplasia) of the vagina occurs in cases where the formation of the vaginal tube is disrupted. Partial or complete occlusion (atresia) of the vagina develops due to an inflammatory process experienced in utero or immediately after birth. The vagina in this pathology has a septum located transversely or longitudinally. This can form a barrier to the passage of menstrual blood out. Clinically, vaginal malformations can be manifested by the absence of menstruation, as well as pain in the lower abdomen due to the accumulation of blood inside the genital organs, the impossibility of sexual intercourse or difficulty with it.

Anomalies of uterine development. They are observed in 1% of women. From the point of view of clinical manifestations, duplication of the uterus and vagina is of great interest. One and the other reproductive apparatus are separated by a transverse fold of the peritoneum, while they function autonomously. With this pathology, one ovary is located on each side. Over time, puberty occurs, the menstrual cycle occurs in the reproductive system in all its parts. Sexual function is not impaired and pregnancy is possible alternately in each of the uteruses. Sometimes duplication of the uterus and vagina is possible. With such disorders, the genital organs are in closer contact. One uterus may be inferior in functionality and size to another. Often on the side of underdevelopment there may be complete fusion of the internal os of the uterus or hymen, which delays menstrual bleeding.

Incomplete fusion of the embryonic genital rudiments can cause a developmental anomaly in which a double uterus has a common vagina, double cervix or body. A developmental anomaly is often possible, in which a bicornuate or saddle-shaped uterus is formed. This is possible due to the incorrect position of the fetus (oblique or transverse), which disrupts the physiological course of pregnancy, and subsequently childbirth.

Anomalies in the development of the fallopian tubes. Sometimes the fetus may develop asymmetrical fallopian tubes. In this case, the length of the fallopian tube on the right is 5 mm longer than on the left. If embryogenesis is disrupted, the difference in the length of the fallopian tubes can be 35-47 cm. Often, due to this pathology, an ectopic pregnancy can occur. Sometimes intrauterine infectious processes can cause congenital obstruction of the fallopian tubes. Sometimes the fetus may have underdevelopment or duplication of two or one fallopian tubes. Malformations of the fallopian tubes can often be combined with abnormal development of the uterus. Such pathological processes can cause infertility and tubal pregnancies.

Anomalies of ovarian development. In healthy women there may be a functional and anatomical predominance of the ovary on the right. With pathology during pregnancy, the fetus may experience unilateral or bilateral agenesis. Such defects are possible in the complete absence of ovaries (Shereshevsky Turner syndrome), as well as congenital hypoganadism, which are accompanied by ovarian hypofunction.

What is a congenital malformation?

The term “congenital malformation” should be understood as persistent morphological changes in an organ or the entire organism that go beyond variations in their structure. Congenital malformations occur in utero as a result of disruption of the developmental processes of the embryo or (much less often) after the birth of a child as a consequence of disruption of further organ formation. The terms “congenital anomalies” can be used as synonyms for the term “congenital malformations.” (anomaly; Greek "deviation"; in biology - a deviation from the structure and/or function inherent in a given biological species, resulting from a violation of the development of the organism), “congenital defects” and “developmental defects”, however, defects that arose in utero are usually called congenital. The concept of “congenital defect” is not limited to developmental disorders, but also includes inborn errors of metabolism. Congenital anomalies are more often called developmental defects that are not accompanied by dysfunction of the organ.

How common are developmental defects?

The incidence of developmental defects (DM) of the reproductive system is about 2.5%. Chromosomal and gene pathology is the cause of about 30% of disorders of sexual development.

What are the stages of normal genital development?

During embryonic development, the gonads are the first to develop. In the embryo, at the 3-4th week of development, a gonad anlage forms on the inner surface of the primary kidney. In this case, the fetus exhibits asymmetry in the development of the ovaries, which is manifested in the anatomical and functional predominance of the right ovary. This pattern continues into reproductive age. The clinical significance of this phenomenon is that after removal of the right ovary, women are much more likely to experience menstrual dysfunction and neuroendocrine syndromes.

The formation of the reproductive system is closely related to the development of the urinary system, so it is more correct to consider the process of their development simultaneously as a single system.

What are the features of the development of the urinary system?

The human kidneys do not acquire their final anatomical and functional form immediately, but after two intermediate stages of development: the kidneys (pronephos) and primary kidney (mesonephos), or Wolffian body. As a result of these two transformations, the final, or secondary, bud is formed (metanephos). All these rudiments are formed sequentially from different zones of nephrogenic cords located along the rudiment of the spine. In this case, the kidney exists for a short time, quickly undergoes reverse development and leaves behind only the primary urinary residue, or Wolffian (mesonephric) duct. Parallel to the regression of the preference, the formation of the Wolffian body occurs, which is two longitudinal ridges located symmetrically along the rudiment of the spine. The definitive kidney is formed from the caudal part of the nephrogenic cord, and the ureter is formed from the Wolffian duct. As the permanent kidney and ureter develop, regression of the Wolffian bodies and Wolffian ducts occurs. Their remains in the form of thin tubules lined with epithelium are preserved in places and cysts (paraovarian) can form from them. Remnant of the cranial end of the primary kidney (epophoron) located in the broad ligament between the tube and the ovary; caudal end (paroophoron) is also located in the broad ligament between the tube and the uterus. The remnants of the Wolffian (Gartner's) duct are located in the lateral sections of the cervix and vagina and can serve as a background for the formation of a cyst (Gartner's duct cyst), and the remnants of the Wolffian bodies - a paraovarian cyst.

What are the stages of development of the reproductive system?

In parallel with the development of the urinary system, the formation of the reproductive system occurs. At the 5th week of development, roller-shaped thickenings of the germinal epithelium appear on the inner surface of the Wolffian bodies, sharply demarcated from the tissue of the Wolffian bodies - the rudiments of the future gonads (ovaries in a woman and testes in a man). Simultaneously with the formation of the gonads, thickenings of the germinal epithelium in the form of cords called Müllerian cords begin to develop on the outer surface of both Wolffian bodies. They are located

parallel and outward from the Wolff bodies. As they grow in the caudal direction, the Müllerian cords transform from solid epithelial formations into canals (paramesonephric). At the same time, the Wolffian body and Wolffian canal are gradually reduced in the female embryo. Subsequently, the upper sections of the Müllerian canals remain outward from the Wolffian ducts, and the lower ones deviate inward and, mutually approaching until they merge, form one common duct.

At what stage of pregnancy are the internal genital organs formed?

The upper sections of the Müllerian canals form the fallopian tubes, and the lower sections form the uterus and most of the vagina. This process begins from the 5-6th week and ends by the 18th week of intrauterine development. The ends of the upper sections expand and form pipe funnels. Gradually lengthening, the Müllerian canals reach the urogenital canal and take part in the formation of the vagina. With the formation of the Müllerian canals, the urogenital canal is divided into the urinary and reproductive canals. Complete fusion of the Müllerian canals and the formation of the uterus occur at the end of the 3rd month of embryonic development, and the formation of the vaginal lumen occurs at the 5th month. The sections of the Müllerian canals that participated in the formation of the fallopian tubes and the gonads (ovaries), initially located along the axis of the fetal body (vertically), gradually move to a horizontal position and, at the 4th month of fetal development, take the position characteristic of an adult woman.

What elements make up the external genitalia?

The external genitalia are formed from the urogenital cloaca and the skin of the lower parts of the embryo’s body. At the lower end of the body of the embryo, a cloaca is formed, into which the end of the intestine, Wolffian ducts with ureters developing from them, and then Müllerian ducts flow into. The allantois (urinary duct) extends from the cloaca. The septum coming from above divides the cloaca into a dorsal section (rectum) and the ventral section - the genitourinary sinus (sinus urogenitalis). The bladder is formed from the upper part of the genitourinary sinus, and the urethra and the vestibule of the vagina are formed from the lower part. The ventral surface of the cloaca (cloacal membrane) is initially continuous (Table 12.1).

Table 12.1.Genesis of normal development and malformations of the internal genital organs

Note:* - time period from the moment of conception (ovulation period)

What is considered a developmental disorder of the reproductive system?

Disorders of the development of the reproductive system include:

1) anomalies of sexual development, accompanied by impaired sexual differentiation (malformations of the uterus and vagina, gonadal dysgenesis, congenital AGS);

When do genital malformations occur?

Malformations of the genital organs arise already during embryonic development, although in some cases they can develop postnatally. Malformations of the genital organs can be very diverse, both in their anatomical nature and in their impact on the woman’s health. To correctly assess the characteristics of the defects encountered, it is necessary to consider the normal process of development of the genitals.

What are the reasons

influencing normal embryogenesis?

The reasons that influence the course of the normal process of embryonic development are diverse, so it is impossible to establish all the factors that could justify the defects in each specific case, although in some cases the connection between the occurrence of defects and certain damaging (teratogenic) factors can be clearly established. All teratogenic factors can be divided into the following groups (Table 12.2).

a) genetic, determining male and female sexual differentiation;

b) external (environment, trauma, teratogenic effects);

c) internal (enzymes, hormones).

Table 12.2.Possible and unlikely teratogenic factors (Slotnik R., 1999)

At what stages of embryogenesis do various malformations occur?

It has also been established that the formation of one or another malformation depends on the period of embryogenesis during which the pathogenic factor exerts its effect.

Based on the characteristics of morphogenesis and typical responses of the embryo and fetus to the influence of pathogenic environmental factors, the entire period of intrauterine development can be divided into the following stages: preimplantation development (initial period); implantation, organogenesis and placentation (embryonic period); fetogenesis (fetal period).

The initial period of intrauterine development lasts from the moment of fertilization until implantation of the blastocyst. A distinctive feature of the initial period is the great compensatory and adaptive capabilities of the developing embryo. If a large number of cells are damaged, the embryo dies, and if individual blastomeres are damaged, the further development cycle is not disrupted (the “all or nothing” principle).

The second period of intrauterine development is embryonic (9-56 days after fertilization). At this time, when the embryo is most sensitive to teratogenic factors, the most severe malformations are formed. After the 36th day of intrauterine development, gross malformations (with the exception of defects of the hard palate, urinary tract and genital organs) rarely form.

The third period is the fertile period. Developmental defects are not typical for this period. Under the influence of environmental factors, growth inhibition and death of fetal cells occur, which later manifests itself as underdevelopment or functional immaturity.

The most crucial period in the formation of the female reproductive system is the 9th week (first trimester of pregnancy) of intrauterine development.

What is the mechanism of occurrence of PR?

The close embryonic connection of the reproductive and urinary systems causes frequent combinations of their anomalies: the number of genitourinary defects ranges from 10 to 100%.

The mechanism of occurrence of PR is not well understood. It is believed that the formation of PR occurs as a result of disruption of the processes of reproduction, migration and differentiation of cells, death of individual

cell masses, slowing down their resorption, disrupting tissue adhesion. Stopping or slowing down cell reproduction leads to aplasia or hypoplasia of the organ, a disruption of the fusion of individual embryonic structures, which normally occurs during strictly defined periods. In cases of low proliferative activity of cells, contact between embryonic structures is delayed. As a result of changes in cell migration, aplasia, heterotopia and a number of complex defects can develop. A change in cell differentiation can occur at any period of embryogenesis and cause organ agenesis, its morphological and functional immaturity. Delay in the physiological decay of cells that die during embryogenesis can lead to atresia and stenosis.

What developmental disorders are considered to be congenital defects?

Agenesis- complete congenital absence of an organ.

Aplasia- congenital absence of an organ with the presence of its vascular pedicle.

Hypoplasia- organ underdevelopment.

Hyperplasia (hypertrophy) - an increase in the relative size of an organ due to an increase in the number (hyperplasia) or volume (hypertrophy) of cells.

Heterotopia- the presence of cells, tissues or entire sections of an organ in another organ or in those areas of the same organ where they should not be.

Heteroplasia- impaired differentiation of certain tissue types.

Ectopia- displacement of an organ, i.e. its location in an unusual place.

Doubling,as well as an increase in the number of one or another organ or part of it.

Atresia- complete absence of a channel or natural opening. Stenosis- narrowing of the canal or opening.

Persistence - preservation of embryonic structures that normally disappear by a certain period of development. One of the forms of persistence is dysraphia (araphia) - non-closure of the embryonic cleft.

Dyschronia- disturbance of the pace (acceleration or deceleration) of development. The process may concern cells, tissues, organs or the entire organism.

On what basis are developmental defects distinguished?

Congenital malformations differ in etiology, sequence of occurrence in the body, time of exposure to the teratogenic factor and localization. The most common classifications are based on the etiological principle and localization.

Based on etiology, it is advisable to distinguish three groups of defects: a) hereditary, b) exogenous, c) multifactorial.

What defects are considered hereditary?

Hereditary defects include defects that arise as a result of mutations, i.e. persistent changes in hereditary structures in gametes - gametic mutations, or (much less often) in the zygote - zygotic mutations. Depending on the level at which the mutation occurred - at the level of genes or chromosomes, hereditary defects are divided into gene and chromosomal.

What defects are classified as exogenous?

The exogenous group includes defects caused by damage to the embryo and fetus directly by teratogenic factors. Because malformations caused by teratogens can copy genetically determined malformations, they are often called phenocopies.

What are genital malformations?

Disorders of the development of the reproductive system include:

1) anomalies of sexual development, accompanied by impaired sexual differentiation (malformations of the uterus and vagina, gonadal dysgenesis, congenital adrenogenital syndrome - AGS, testicular feminization, various intersex conditions);

2) anomalies of sexual development without impaired sexual differentiation (premature puberty, delayed puberty).

The frequency of birth defects of the reproductive system is about 2.5%. Chromosomal and gene pathology is the cause of about 30% of disorders of sexual development.

Pregnancy of the genital organs occurs already during embryonic development, although in some cases they can develop postnatally.

The frequency of congenital malformations of the genital organs in newborns is 0.2-0.9%, and in relation to all malformations - about 4%.

Malformations of the genital organs can be very diverse, both in their anatomical nature and in their impact on the woman’s health. To correctly assess the characteristics of the defects encountered, you should know the normal process of development of the genitals (see Chapter 1).

What is the etiology of genital malformations?

The reasons that influence the course of the normal process of embryonic development are diverse, therefore, it is impossible to establish all the factors that could justify the defects in each specific case, although sometimes the connection between the occurrence of defects and certain damaging (teratogenic) factors can be clearly established. All teratogenic factors can be divided into the following groups:

Genetic, determining male and female sexual differentiation;

External (environment, trauma, teratogenic effects);

Internal (enzymes, hormones).

The close embryonic connection of the reproductive and urinary systems is determined by combinations of their anomalies: the frequency of combinations of urinary and genital defects ranges from 10 to 100%.

What are the developmental defects of the vulva and hymen?

Vulva with imperforate hymen in a 14-year-old girl.

Among vulvar PRs, vulvar deformations are observed due to hypospadias (underdevelopment of the urethra with its opening into the vagina) or epispadias (improperly developed external genitalia with underdevelopment of the anterior wall of the urethra, clefting of the clitoris and womb) with an unnatural opening into the vagina or its vestibule of the rectum .

The most common pathology is hymenal atresia, which occurs in 0.02-0.04% of girls. Clinically, hymen atresia manifests itself during puberty, when the absence of menstruation is detected. Menstrual blood, accumulating in the vagina, stretches its walls (hematocolpos). Its upper pole, on

in which a small, dense uterus is visible, located above the plane of the entrance to the pelvis. Gradually, menstrual blood can fill and stretch the cavity of the uterus (hematometra) and fallopian tubes (hematosalpinx).

Hymenal atresia may not manifest itself in any way for some time, but as blood accumulates in the vagina, uterus, and fallopian tubes, symptoms associated with compression of the bladder and intestines, nagging pain in the lower back, as well as cramping pain and malaise during menstruation appear. When menstrual blood enters the abdominal cavity or becomes infected, peritoneal symptoms occur.

What are the diagnosis and treatment of hymenal atresia?

The diagnosis is made during examination (Fig. 12.1) based on ultrasound data. A solid bluish hymen, slightly protruding outward, is revealed, and sometimes the entire perineum. A recto-abdominal examination reveals a tumor-like elastic formation, at the apex of which the uterus is identified (Fig. 12.2).

Rice. 12.1. Hymenal atresia

Rice. 12.2.Sagittal section of the pelvis with an imperforated hymen: 1 - hematosalpinx; 2 - hematometer; 3 - hematocolpos; 4 - symphysis; 5 - hematoperitoneum

Rice. 12.3.Imperforate hymen. Cross-shaped incision and circular excision

Differential diagnosis should be made with a dystopic (pelvic) kidney or an ovarian tumor.

Treatment of hymenal atresia consists of its cruciform dissection and the application of separate sutures to the edges of the incision or its partial excision. The operation is performed under aseptic conditions; it is accompanied by emptying of the hematocolpos (Fig. 12.3). The prognosis is favorable.

What are the most common vaginal malformations? What are the reasons for their occurrence?

The incidence of vaginal anomalies is 1:5000 births.

Vaginal agenesis represents the primary complete absence of the vagina. It can be detected before puberty or before the onset of sexual activity. When examined, such patients have a slight depression between the labia - up to 2-3 cm.

Vaginal aplasia observed as a result of insufficient development of the lower parts of the Müllerian (paramesonephric) ducts. The incidence of vaginal and uterine aplasia is 1 in 20,000 women. When examined, women have a female body type, the external genitalia are developed correctly; karyotype 46XX. The uterus is often rudimentary, and the fallopian tubes and ovaries (which are located at or above the level of the innominate line) often show signs of developmental delay. Ovarian function is reduced. In some women, the uterus is normally developed, and biphasic cyclic changes in rectal temperature and excretion of estrogen and progesterone may be observed.

The main complaints are the absence of menstruation (true or false amenorrhea), the inability to have sexual intercourse, and the absence of pregnancy.

Vaginal atresia occurs as a result of scarring after an inflammatory process in the antenatal or postnatal period, which leads to complete or partial closure of the vagina. Clinically manifested during puberty by retention of menstrual blood in the vagina, uterine cavity, and fallopian tubes.

The diagnosis is established by rectoabdominal and vaginal examination, probing, vaginoscopy, ultrasound, and examination of the vagina in the speculum.

What treatment is possible for vaginal malformations?

Treatment of vaginal agenesis and aplasia is only surgical - the creation of an artificial vagina. For this purpose, the pelvic peritoneum, skin flap, section of the resected sigmoid or rectum, and alloplastic materials are used. After plastic surgery, women can be sexually active.

Treatment of vaginal atresia is surgical and consists of splitting the overgrown space. In cases of extensive atresia, clefting is completed with plastic surgery.

Sometimes a longitudinal or transverse septum is found in the vagina. This type of anomaly can be combined with a bicornuate uterus. The longitudinal septum does not manifest itself in any way and can be a finding during examination by a gynecologist or obstetrician in a maternity hospital.

What are uterine malformations?

Depending on the degree of severity, the options for uterine PR are very diverse and depend on whether complete or partial fusion of the paramesonephric ducts occurred during the process of organogenesis (Fig. 12.4).

Uterine birth defects are usually associated with the action of damaging factors in the first 3 months of intrauterine development or with genetic factors. Women with uterine birth defects often have a burdened heredity, and their offspring have an increased frequency of developmental anomalies.

Uterine agenesisalso occurs in nonviable fetuses in combination with other severe developmental defects.

Duplication of the uterus and vagina (uterus didelphys) observed extremely rarely and is characterized by the presence of two completely independent

Rice. 12.4.An incomplete list of variants of Müllerian duct anomalies (according to Stoeckel): 1 - u. didelphys; 2 - u. duplex et v. duplex; 3 - u. bicornis bicollis, v. simplex; 4 - u. bicornis unicollis; 5 - u. arcuatus; 6 - u. septus duplex seu bilocularis; 7 - u. subseptus; 8 - u. biforis; 9 - u. foras arcuatus; 10 - v. septa; 11 - v. subsepta; 12 - u. unicornis; 13 - u. bicornis rudimentarius solidus cum v. solida(Mayer-Rokitansky-Kuster syndrome); 14 - u. bicornis rudimentariuspartim excavatus; 15 - u. unicornis; 16 - u. bicornis cum haematometra

half organs: two uteruses (each has one tube and an ovary), two cervixes and two vaginas. The uterus and vagina are completely separate, with the bladder and rectum located between them. Both halves can be developed satisfactorily or unevenly. Both uteruses can function well and pregnancy can occur in them alternately.

What are the features of uterus duplex and vagina duplex (septa)?

Slightly more common uterus duplex and vagina duplex (septa). With this type of anomaly there are also two uteruses, two cervixes and two vaginas, but in a certain area (usually in the cervix) both parts of the reproductive system come into contact with each other, often with the help of a fibromuscular septum. Often there is underdevelopment of one of the uteruses, atresia of the hymen, internal os, partial atresia or aplasia of the vagina on one side, which is accompanied by the development of unilateral hematocolpos.

What are the features of a bicornuate uterus?

Another type of uterus is a bicornuate uterus (uterus bicornis bicollis), in which there is a common vagina and bifurcation of the cervix and body of the uterus, and uterus bicornis unicollis- only bifurcation of the uterine body. Bicornuate uterus may be slightly expressed. If the fusion of the Müllerian ducts does not occur only in the fundus, then this leads to a saddle-shaped depression - uterus arcuatus. With a significant lag in the development of one of the paramesonephric ducts, uterus bicornis with a vestigial horn. A rare type of uterine PR is uterus unicornis (uterus pseudounicornis).

What is Mayer-Rokitansky-Küstner syndrome?

A special anomaly is uterus bicornis rudimentarius solidus, also called Mayer-Rokitansky-Küstner syndrome. This defect is characterized by the presence of thin connecting buds in the area of ​​the vagina and uterus.

What is the clinical picture for uterine malformations?

Duplication of the uterus and vagina may be asymptomatic. Menstrual, sexual and even reproductive functions remain normal. But due to the fact that this type of defect is often accompanied by a delay in the development of the uterus and ovaries, there are observed

menstrual dysfunction, repeated spontaneous miscarriages, weakness of labor, bleeding in the afterbirth and postpartum periods, etc. Pregnancy that occurs in the rudimentary horn is classified as ectopic, and if it is interrupted (rupture of the rudimentary horn), it is characterized by severe clinical bleeding .

What is the diagnosis of uterine malformations?

Diagnostics.In most cases, uterine rupture is diagnosed using conventional research methods: using mirrors, bimanual examination, probing, and ultrasound. Examination of the urinary system allows us to determine the forms of malformations of the urinary organs.

What is the treatment for uterine malformations?

Treatment.Some types of uterine rupture (saddle-shaped, one-horned, etc.), which are asymptomatic, do not require any treatment. If this or that defect is accompanied by miscarriage, then plastic surgery is performed according to indications (Fig. 12.5).

Rice. 12.5.Metroplasty for a bicornuate uterus (Strassmann operation): A - transverse section of the uterine fundus; B - excision of the septum; B - overlay

stitches on the uterus

The accessory, or rudimentary, horn (outside or during pregnancy) of the uterus is removed during surgery.

The prognosis is favorable in most cases.

What are the types of ovarian malformations?

Ovarian aplasia is extremely rare and, obviously, can only be observed in non-viable fetuses with other developmental defects incompatible with life.

The absence of an ovary on one side is sometimes observed with a unicornuate uterus, but with a unicornuate uterus, two ovaries are more often developed.

Insufficient anatomical and functional development of the ovaries is usually combined with underdevelopment of other parts of the reproductive system.

A rare form of PR is absence of ovaries or gonadal dysgenesis (GD). The ovaries are represented by connective tissue cords, which may contain separate groups of cells of the cortex or medulla. The external genitalia with this defect are underdeveloped, the uterus is rudimentary. DG occurs as a result of chromosomal abnormalities.

There are several forms of DG:

Typical form of DH (Shereshevsky-Turner syndrome);

Pure form of DG;

Mixed form of DG.

What is characteristic of the typical form of DG - Shereshevsky-Turner syndrome?

This form is characterized by pronounced somatic anomalies: short stature (up to 150 cm), broad shoulders, narrow pelvis, short neck with pterygoid folds and low hair growth, valgus deviation of the elbow and knee joints, malformations of the cardiovascular system, kidneys, micrognathia and high palate, low-lying ears, multiple pigment spots, etc. Characteristic signs of delayed sexual development: the mammary glands are not developed with widely spaced nipples, there is no sexual hair growth, severe hypoplasia of the genitals with connective tissue cords instead of the ovaries, primary amenorrhea. Intellectual development is normal, examination reveals chromosomal abnormalities (45X0, 46XX, 46X0), sex chromatin is reduced or absent, estrogen synthesis is reduced, the content of FSH and LH in the blood plasma is sharply increased.

The typical form of DH is diagnosed at birth. Children are distinguished by low body weight and peculiar swelling of the extremities, which soon disappear without treatment.

What are the causes and clinical picture of the erased form of DG?

Of greatest interest to the clinic and difficult to diagnose is erased form of DG. The cause of the disease is also chromosomal abnormalities in the karyotype of patients. Clinical manifestations are characterized by significant variability. The mosaic nature of the karyotype is most often detected - 45 X0/46XX. With a predominance of clone 45X0, patients in appearance are closer to the clinical picture of Shereshevsky-Turner syndrome. The predominance of the normal cell clone 46XX smooths out the somatic signs of the typical form of DH. Patients are less likely to have short stature; there may be insufficient but spontaneous development of the secondary genital organs in the presence of primary amenorrhea. Timely onset of menstruation occurs in 20% of patients, and 10% experience relatively regular menstruation for 10 years after menarche, which then develops into oligomenorrhea and secondary amenorrhea. On examination, the external genitalia are hypoplastic. Ultrasound and laparoscopy also reveal sharply hypoplastic ovaries, which on histological examination contain stromal elements, connective tissue with single primordial follicles.

What characterizes the pure form of DG?

In this clinical variant there are no somatic abnormalities. Growth is normal or below average, mammary glands are not developed, sexual hair is scanty or absent. On examination, the external genitalia, vagina and uterus are underdeveloped, the ovaries are rudimentary, and primary amenorrhea is typical. Sex chromatin is negative, karyotype 46ХУ, 46ХХ, 450. Secretion of estrogen is sharply reduced.

What characterizes the mixed form of DH?

This form of dysgenesis is an anomaly that combines the features of a pure form with manifestations of a typical form. Patients are characterized by normal height, intersex physique, absence of somatic abnormalities and signs of virilization. The examination reveals a delay in the development of the mammary glands, symptoms of virilization, and some enlargement of the clitoris against the background of hypoplasia of the genital organs. The karyotype is often 45X/45XY. Laparoscopy and histological examination reveal a fibrous cord on one side and underdeveloped elements of testicular tissue on the other.

What treatment is used for DH?

Treatment of DHdepends on its shape and the karyotype of the patients. In mixed and pure forms of DG with karyotype 46XY, treatment should begin with removal of the gonads, without waiting for signs of virilization, due to the high risk of malignancy in these forms of dysgenesis. Patients with typical and pure forms of DH with karyotype 46XX undergo hormone replacement therapy with sex hormones, which leads to feminization of the figure, development of the mammary glands, external and internal genital organs and cyclic menstrual-like discharge. All this relieves girls from the consciousness of their own inferiority and contributes to their social adaptation.

What condition does the term “hermaphroditism” correspond to?

This term refers to a pathology of gonadal development in which an individual has anatomically and functionally developed gonads of both sexes. There are two types of hermaphroditism: true and false. True hermaphroditism, or bisexuality, is the presence in one individual of gonads of both sexes: ovary and testicle or gonads of mixed structure (ovotestis). False hermaphroditism, or pseudohermaphroditism, is a discrepancy between the structure of the external genitalia and the nature of the gonads. A distinction is made between false female and male pseudohermaphroditism.

What is false female hermaphroditism?

False female hermaphroditism is much less common. The reasons for this form of hermaphroditism are: intake of androgens or progesterone; the presence of an androgen-secreting tumor in the mother; genetically determined hyperproduction of androgens in a child, which began in utero as a congenital form of adrenogenital syndrome. Upon examination, the internal genital organs (vagina, uterus, fallopian tubes and ovaries) are developed according to the female type, but at the same time the rudiments of male reproductive elements remain unreduced. The external genitalia are developed in a pattern approaching that of the male: the clitoris is enlarged, the labia majora fused along the midline resemble the scrotum, the urethra and vagina in the lower third are not separated and form a urogenital sinus that opens under the enlarged clitoris.

How is male pseudohermaphroditism characterized?

Male pseudohermaphroditism is characterized by inverse relationships: in the presence of male gonads (testes), the external genitalia more or less resemble the structure of female ones. Upon examination, a small penis resembling an enlarged clitoris and hypospadias are revealed. Often the scrotum is split into two folds fused along the midline, reminiscent of the labia majora.

What are the diagnosis and treatment of male pseudohermaphroditism?

Diagnosis of these defects is often difficult, especially in childhood, so sometimes mistakes are observed in the upbringing of such children: a female child is raised as a boy, and vice versa.

Defective testicles are removed surgically due to the risk of their malignancy. The androgen-secreting tumor is also removed. The issue of surgical treatment is decided individually in each specific case and depends on the form of hermaphroditism. Plastic surgery to correct the external genitalia and hormone therapy are also used.

What is meant by disorders of sexual development in girls?

The process of sexual development (maturation) is characterized by the occurrence of multiple quantitative and qualitative changes in the girl’s body, preparing her for the reproductive function. There are two phases of puberty. the first - prepubertal - is characterized by a growth spurt, the appearance of secondary sexual characteristics, further development of the genital organs and ends with the appearance of the first menstruation. The second phase begins with menarche and ends with the completion of sexual and somatic development. The physiological process of sexual development occurs in a specific genetically encoded sequence, which is mainly facilitated by the neuroendocrine system, especially sex steroid hormones.

Disorders of sexual development are not the same in the essence of the pathological process, clinical picture, time of onset and manifestation of symptoms. The following disorders of sexual development in girls are distinguished:

Premature sexual development;

Delayed sexual development;

Disorders of sexual development during puberty;

Lack of sexual development (gonadal dysgenesis, ovarian aplasia).

What are the causes of disorders of sexual development in girls?

A major role in the occurrence of disorders of sexual development is played by pathological processes operating in the prenatal period, during childbirth and during the newborn period (preeclampsia, threatened miscarriage, anomalies of labor, fetal asphyxia, injuries of the central nervous system, prematurity, fetal malnutrition, infectious diseases). illnesses and alcoholism of the mother, etc.). Infectious diseases suffered in childhood and puberty occupy a special place. Rare causes of developmental anomalies are neoplasms and cysts of the hypothalamic-pituitary system, ovaries, and adrenal glands. The nature of the disorders can be organic or functional.

What is precocious sexual development (PPD) of the isosexual form (female type)?

Sexual development is considered premature if menstruation (menstrual-like discharge) and secondary sexual characteristics appear in the first decade of a girl’s life (before 8 years). Depending on the severity of the symptoms, complete and incomplete forms of PPR are distinguished. The full form includes those cases when girls develop all secondary sexual characteristics with the presence of menstruation (menstrual-like reactions). This form of PPD is characterized by an acceleration of the rate of growth and maturation of the skeletal system, and the process of bone maturation prevails over the rate of their growth, which causes early growth cessation. Such girls are short in stature with signs of a dysplastic physique: narrow shoulders, short limbs with a relatively long body. In the incomplete form, secondary sexual characteristics develop, but menstruation (or menstrual-like discharge) is absent. Unlike the full form, with this pathology growth and maturation of bones occur simultaneously, so significant growth retardation and significant changes in physique are not observed.

What forms of PPD are there in girls?

Depending on the etiology, pathogenesis and clinical picture, cerebral, ovarian and constitutional forms of PPR are distinguished.

The cerebral form, in addition to signs of PPR, is characterized by damage to the central nervous system. In this case, the hypophysiotropic structures of the hypothalamus are involved in the process, premature secretion of RHLH begins, stimulating the formation and release of FSH and LH by the pituitary gland. This, in turn, causes the growth and maturation of follicles and the secretion of estrogen in the ovaries. In some cases, there are signs of organic damage to the central nervous system, accompanied by delayed intellectual development, in others - neurological symptoms indicating functional disorders of diencephalic structures (moderate obesity, hyperhidrosis, lability of vasomotor reactions, etc.).

The ovarian form of PPR (false PPR) develops as a result of follicular cysts or hormonally active ovarian tumors. The growth and mental development of such children correspond to their age.

In the constitutional form of PPR, it is not possible to identify any neurological, cerebral or other pathology. The only age that is premature is when puberty begins. Obviously, there are deviations in the implementation of the genetic program for the maturation of the neurosecretory structures of the hypothalamus. The process of formation of the circhoral type of LH RG secretion occurs not in the second, but in the first decade of life, which is indirectly confirmed by the hereditary, familial nature of constitutional PPR.

What is the diagnosis of PPR?

Diagnosing PPR is not difficult. The examination must be carried out in specialized hospitals. The diagnosis is usually made by objective examination of the girl. It can be more difficult to identify the cause that caused PPR. Mandatory examination methods are ultrasound of the pelvic organs, laparoscopy if ultrasound results are questionable, neurological examination using EEG and REG, hormonal studies (gonadotropins), determination of bone age. Functional diagnostic tests (FDT) are also widely used.

What are the principles of treatment for PPR?

Treatment of PPR is carried out depending on the identified pathology that caused PPR and inhibition of the PPR process. Ovarian tumors are subject to surgical treatment. It is not recommended to remove the follicular cyst that caused PPR, as it undergoes reverse development, after which the symptoms caused by it disappear. The SPR process is inhibited at the level of target tissues. Thus, synthetic LH-RH agonists are used to suppress the premature activity of the neuroendocrine structures of the hypothalamus and gonadotropic cells of the pituitary gland. The action of these drugs is based on the blockade of LH and FSH receptors, as a result of which their secretion by the anterior pituitary gland is sharply reduced, which leads to the cessation of premature ovarian activity.

Prevention of PPR comes down to protecting the health of the mother and father of the unborn child, preventing complications of pregnancy and childbirth (asphyxia, injuries), and rational treatment of infectious diseases in childhood.

What are the characteristics of disorders of sexual development during puberty (heterosexual PPD)?

This form of PPD is characterized by the appearance of signs of puberty of the opposite sex (male) in girls in the first decade of life. The most common clinical form of heterosexual PPR is a pathology called “adrenogenital syndrome,” which is known among clinicians as congenital adrenal hyperplasia, false female hermaphroditism, or heterosexual-type PPR in girls.

What is the etiology of AGS?

AGS is a consequence of congenital deficiency of the enzyme system (C-21-hydroxylase) involved in the synthesis of adrenal steroid hormones. In this case, the synthesis of cortisol, the main glucocorticoid hormone of the adrenal cortex, is disrupted, the formation of which decreases. According to the feedback principle, the formation of ACTH in the anterior lobe of the pituitary gland increases and the synthesis of cortisol precursors increases, from which androgens are formed due to enzyme deficiency. The disease is autosomal recessive and occurs in one case per 5,000 newborns.

What are the clinical manifestations of AGS?

Clinically, the congenital form of AGS at the age of 3-5 years begins to manifest itself as a picture of male-type PPR: male body type and distribution of muscle and fat tissue, good development of bone and muscle tissue (“little Hercules”, in the words of L. Wilkins).

Dysfunction of the adrenal glands begins already in utero; the diagnosis of congenital AGS can be made in a newborn girl. Upon examination, virilization of the external genitalia is revealed: enlargement of the clitoris, fusion of the labia majora and persistence of the urogenital sinus, which opens under the enlarged clitoris. Often such girls are mistaken for boys with hypospadias and cryptorchidism. In the case of pronounced virilization, this form of PPR is called false female hermaphroditism, which is the most common form of hermaphroditism among disorders of sexual development. An objective diagnostic method remains ultrasound or computed tomography of the adrenal glands. The most informative test is the increased content of 17-KS, 17-OHP, DHEA in the urine and/or testosterone in the blood, which normalizes after a test with glucocorticoids.

Differential diagnosis is made with a virilizing adrenal tumor that developed in girls in the first decade of life. With this pathology, virilization of the external genitalia manifests itself only in an enlargement of the clitoris. A test with glucocorticoids does not lead to a decrease in 17-KS or testosterone. Upon examination, a unilateral enlargement of the adrenal gland is detected.

What are the principles of treatment for AGS?

The congenital form of AGS is treated with glucocorticoids for a long time. The dose of the drug depends on the level of hyperandrogenism. In case of gross virilization, plastic corrective surgery is performed. Treatment of adrenal tumors is surgical.

What is meant by delayed sexual development (DSD)?

Delayed sexual development is understood as the absence or underdevelopment of secondary sexual characteristics at 13-14 years of age and the absence of menarche at the age of 15-16 years.

What is the etiology of ZPR?

The causes of ZPR are disorders of the mechanisms regulating the activity of the reproductive system or primary functional ovarian failure. Of great importance are gene disorders, complicated intrauterine development, and the adverse effects of a number of factors (malnutrition, hypothyroidism, chronic tonsillitis, childhood and other infections that can have an adverse effect on the ovaries; rheumatism, ovarian surgery, etc.). There are 2 forms of ZPR: central and ovarian origin.

What are the causes of ZPR of central origin?

The causes of CPR can be cerebral disorders of an organic nature: traumatic, toxic, infectious lesions (encephalitis, epilepsy, tumors of the hypothalamic region). This pathology of the central nervous system can cause mental retardation if the structures of the mediobasal hypothalamus are involved in the process.

What types of mental retardation are classified as cerebral forms?

Cerebral forms include mental retardation in psychoses, neuroses, and due to stressful situations. One of the cerebral forms of mental retardation is anorexia nervosa. (anorexia nervosa)- refusal to eat, regarded as a neurotic situation in response to changes occurring in the body during puberty. This form includes mental retardation due to loss of body weight during puberty, when girls begin to diet.

What is the pathogenesis of mental retardation against the background of weight loss?

As a result of stressors, the formation and release of endorphins is disrupted. In the suprahypothalamic and hypothalamic dopaminergic structures, the processes of synthesis and secretion of gonadoliberins are disrupted and, as a result, the formation of gonadotropins by the pituitary gland is reduced. A certain role is played by reducing the amount of adipose tissue, where extragonadal estrogen synthesis occurs.

What is the clinical picture of cerebral forms of mental retardation?

In cerebral forms of mental retardation, the main and sometimes only complaint is impaired sexual development. Girls with mental retardation differ from their peers in the insufficient development of secondary sex organs.

signs and amenorrhea, the absence of “feminization of the figure” - the distribution of fat and muscle tissue according to the female type and changes in the structure of the pelvis.

Girls with mental retardation have a eunuchoid physique: elongated arms and legs, a relatively short torso, and a decrease in the transverse dimensions of the pelvis. Their height is usually higher than that of their peers.

The deficiency of estrogen, which plays an important role in the ossification process, is the reason for the delay in length growth in such girls. A gynecological examination reveals hypoplasia of the genital organs (severe sexual infantilism).

What characterizes the ovarian form of ZPR?

In the ovarian form of ZPR, there is a decrease in the follicular apparatus; such ovaries are called hypoplastic, “insensitive,” resistant to gonadotropic stimulation. It is possible that childhood infectious diseases (measles, rubella, mumps, etc.) or toxic influences that cause disturbances in the follicular apparatus or ovarian innervation play a certain role in the pathogenesis of this pathology.

What is the clinical picture for the ovarian form of ZPR?

The clinical picture of ZPR with hypoplastic ovaries is characterized by intersex body features; Despite the delay in the processes of ossification of the epiphyses of tubular bones, the body length of girls does not exceed normal age standards.

Secondary sexual characteristics are underdeveloped, and hypoplasia of the external and internal genital organs is also noted. Primary amenorrhea is typical, but there may be scanty and infrequent menstruation.

The hormonal characteristics of such patients are typically characterized by a sharp decrease in estrogen in the blood with an increase in the content of gonadotropins. In a vaginal smear, parabasal cells predominate; there are a few intermediate ones.

What are the criteria for diagnosing mental retardation?

When examining girls with mental retardation, the following criteria are used:

Lack of menarche over 16 years of age;

Lack of signs of the onset of puberty at the age of 13-14 years and older;

Absence of menarche for 3 years or more from the onset of breast development and sexual hair growth;

Discrepancy between height and body weight and chronological age.

The main problem in diagnosing mental retardation is establishing the level of damage to the reproductive system. Anamnesis is of great importance, during the collection of which information about the sexual development of sisters and blood relatives is clarified. During the examination, the features of the physique, development of secondary sexual characteristics and genital organs are carefully noted.

What are the methods for diagnosing mental retardation?

In patients with mental retardation, if cerebral forms of pathology are suspected, a neurological examination is necessary. Among the instrumental research methods used:

EEG and REG, allowing to differentiate organic or functional disorders of cerebral and diencephalic structures;

X-ray of the skull and sella turcica, if indicated - computed tomography of the brain;

For patients with identified pathology of the sella turcica - examination of the color fields of vision and fundus of the eye;

Ultrasound examination of the pelvic organs to clarify the size of the uterus and ovaries;

If there are additional indications, laparoscopy with gonadal biopsy.

Hormonal studies. It is advisable to determine prolactin levels in patients with a normal body type and well-developed mammary glands.

If a hormonal study reveals low levels of gonadotropins (FSH and LH), this excludes primary ovarian failure, but does not allow differentiation of the hypothalamic or pituitary level of pathology.

What functional tests are performed for the purpose of differential diagnosis?

1. Test with RHLG: 100 mcg of LH RG is administered intravenously, followed by determination of LH in the blood after 15, 30, 60 and 120 minutes. An increase in LH levels indicates preserved gonadotropic activity of the pituitary gland and dysfunction of the hypothalamic structures. The absence of an increase in LH levels indicates that the pituitary gland is refractory, i.e., the absence of formation of gonadotropins in it.

2. Test with clomiphene: taking clostilbegit (clomiphene) 100 mg per day for 5 days, followed (after 2-3 days) by determining LH or E 2 in the blood indicates activation of the gonadotropic function of the pituitary gland and indirectly the ovaries. Determination of estrogens to a certain extent can replace research using functional diagnostic tests.

3. Test with pergonal allows you to find out the functional state of the ovaries, their response to stimulation with gonadotropic drugs and thus exclude their primary inferiority.

What treatment is carried out for mental retardation?

In the development of complex therapy for mental retardation, aimed at normalizing the function of the diencephalic region, the participation of a neurologist is necessary.

In addition to the general influences taken to normalize the function of higher structures regulating reproductive function, hormonal therapy is used - replacement therapy, cyclic sex hormone preparations, gonadotropic drugs that stimulate ovarian function.

The use of LH RG for the treatment of hypothalamic forms of mental retardation is a task for the near future.