AGS salt-wasting form of virile syndrome. How is adrenogenital syndrome treated? “Adrenogenital syndrome”

The content of the article

Congenital virilizing adrenal hyperplasia is a genetically determined disease, the development of which is based on the inferiority of enzyme systems in the adrenal cortex, insufficient production of cortisol and increased production of 17-ketosteroids, which have androgenic properties. The disease occurs in people of both sexes.

Etiology of adrenogenital syndrome

Pathogenesis of adrenogenital syndrome

Pathomorphology of adrenogenital syndrome

Classification of adrenogenital syndrome

Clinic of adrenogenital syndrome

Diagnosis of adrenogenital syndrome

Differential diagnosis of adrenogenital syndrome

Prognosis of adrenogenital syndrome

Treatment of adrenogenital syndrome

Adrenogenital syndrome(AGS) is a hereditary fermentopathy with congenital hyperplasia of the adrenal cortex. The pathology is based on a genetically determined disruption of the steroidogenesis process. AGS is characterized by hypersecretion of androgens by the adrenal glands, suppression of the production of gonadotropic hormones and glucocorticoids, and impaired folliculogenesis.

In official medicine, AGS is called Apère-Gamay syndrome. He's different hormonal imbalance in organism: excess levels of androgens in the blood And insufficient amounts of cortisol and aldosterone. The consequences of the disease are most dangerous for newborns. Their body becomes full of androgens and low in estrogen - male and female sex hormones.

First Clinical signs diseases appear in children immediately after birth. In some, extremely in rare cases, AGS is detected in individuals aged 20-30 years. The prevalence of the syndrome varies significantly among ethnic groups: it is highest among Jews, Eskimos, and Caucasians.

A little anatomy

Adrenal glands - paired endocrine glands, located above top part human kidney. This organ ensures the coordinated functioning of all body systems and regulates metabolism. The adrenal glands, together with the hypothalamic-pituitary system, provide hormonal regulation of the vital functions of the body.

The adrenal glands are located in the retroperitoneum and consist of an outer cortex and an inner medulla. Cells of the cortex secrete glucocorticosteroid and sex hormones. Corticosteroid hormones regulate metabolism and energy, provide immune protection body, tone the vascular wall, help adapt to stress. IN medulla Catecholamines, biologically active substances, are produced.

Cortisol is a hormone from the group of glucocorticosteroids secreted by the outer layer of the adrenal glands. Cortisol regulates carbohydrate metabolism And blood pressure, protects the body from the influence of stressful situations, has a slight anti-inflammatory effect and increases the level of immune defense.

Aldosterone is the main mineralocorticoid produced glandular cells adrenal cortex and regulatory water-salt metabolism in organism. He deduces excess water and sodium from tissues into the intracellular space, prevents the formation of edema. By acting on kidney cells, aldosterone can increase circulating blood volume and increase blood pressure.

Classification

There are 3 clinical forms AGS, which are based on varying degrees of 21-hydroxylase deficiency:

21-hydroxylase

• Complete absence of 21-hydroxylase in the blood leads to the development of a salt-losing form. It is quite common and life-threatening. In the newborn's body, the water-salt balance and reabsorption in the renal tubules, excessive urination occurs. Due to the accumulation of salts in the kidneys, the functioning of the heart is disrupted, and jumps in blood pressure occur. Already on the second day of life, the child becomes lethargic, drowsy, and adynamic. Patients often urinate, regurgitate, vomit, and practically do not eat. Infants die from dehydration and metabolic disorders. In girls, phenomena of pseudohermaphroditism are observed.
• Partial 21-hydroxylase deficiency caused by the typical virile form of the syndrome. At the same time, against the background normal content aldosterone and cortisol in the blood increases the level of androgens. This pathology is not accompanied by symptoms of adrenal insufficiency, but is manifested only by sexual dysfunction. In girls, the clinical picture of the disease is much brighter than in boys. The first symptoms appear immediately after childbirth. The enlargement of the clitoris ranges from its slight hypertrophy to the full formation of the male penis. In this case, the ovaries, uterus and fallopian tubes develop normally. Late detection of pathology and lack of treatment leads to progression of the disease. In boys with AGS, the clinical picture is less pronounced. Their genitals are formed correctly at birth. Precocious puberty syndrome manifests itself clinically at 3-4 years of age. As the boy grows up, reproductive dysfunction progresses: oligo- or azoospermia develops.
• Atypical late or postpubertal form is acquired. It develops only in women who are sexually active and has scant clinical picture up to complete absence symptoms. The cause of the pathology is usually an adrenal tumor. Patients experience accelerated growth, an enlarged clitoris, acne, hirsutism, dysmenorrhea, polycystic ovary syndrome, and infertility. With this form of the syndrome there is a high risk of miscarriage and early death. Atypical form difficult to diagnose, due to the unclear symptoms and the absence of pronounced adrenal dysfunction.

Etiopathogenesis

AGS occurs in individuals with congenital deficiency of the enzyme C21-hydroxylase. In order for its quantity in the body to be maintained at an optimal level, a full-fledged gene is required, localized in the autosomes of the 6th chromosome. A mutation of this gene leads to the development of pathology - an increase in size and deterioration in the functioning of the adrenal cortex.

The syndrome is inherited in an autosomal recessive manner - from both parents at once. In a carrier of one mutant gene, the syndrome does not manifest itself clinically. Manifestation of the disease is possible only in the presence of defective genes in both autosomes of the 6th pair.

Patterns of hereditary transmission of adrenogenital syndrome:

1. Children born to healthy parents who are carriers of the mutant gene may inherit adrenal hyperplasia.
2. Children born to a healthy mother from a sick father are healthy carriers of the disease.
3. Children born to a healthy mother from a father who is a carrier of the mutation will suffer from AGS in 50% of cases, and in 50% will remain healthy carriers of the affected gene.
4. Children born from sick parents will inherit this disease in 100% of cases.

In extremely rare cases, adrenogenital syndrome is inherited sporadically. The sudden onset of pathology is due to a negative impact on the process of formation of female or male germ cells. In extremely rare cases, sick children are born to completely healthy parents. The cause of such anomalies can be tumors of the adrenal glands and hyperplastic processes in the glands.

Pathogenetic links of AGS:

• defect of the gene encoding the enzyme 21-hydroxylase,
• lack of this enzyme in the blood,
• disruption of the biosynthesis of cortisol and aldosterone,
• activation of the hypothalamic-pituitary-adrenal system,
• hyperproduction of ACTH,
• active stimulation of the adrenal cortex,
• increase in the cortical layer due to the proliferation of cellular elements,
• accumulation of cortisol precursor in the blood,
• hypersecretion of adrenal androgens,
• female pseudohermaphroditism,
• precocious puberty syndrome in boys.

Risk factors that activate the pathology mechanism:

1. taking strong drugs,
2. increased level of ionizing radiation,
3. long-term use of hormonal contraceptives,
4. injuries,
5. intercurrent diseases,
6. stress,
7. surgical interventions.

The causes of AGS are exclusively hereditary in nature, despite the influence of provoking factors.

Symptoms

Main symptoms of AGS:

• Sick children in early age They are tall and have large body mass. As a child's body develops, their appearance changes. By the age of 12, growth stops and body weight returns to normal. Adults are short and thin in build.
• Signs of hyperandrogenism: a large penis and small testicles in boys, a penis-shaped clitoris and hair growth male type in girls, presence of other masculine characteristics in girls, hypersexuality, rough voice.
• Rapid growth with deformation of bone tissue.
• Unstable mental state.
• Persistent arterial hypertension in children and dyspepsia are nonspecific signs present in many diseases.
• Hyperpigmentation skin child.
• Periodic convulsions.

The salting form is different severe course and is rare. The disease manifests itself:

1. sluggish sucking
2. decrease in blood pressure,
3. diarrhea,
4. severe vomiting
5. convulsions,
6. tachycardia,
7. microcirculation disorders,
8. weight loss,
9. dehydration,
10. metabolic acidosis,
11. increasing adynamia,
12. dehydration,
13. cardiac arrest due to hyperkalemia.

The salt-wasting form is characterized by hyperkalemia, hyponatremia, and hypochloremia.

The simple form of AGS in boys aged 2 years is manifested:

1. penis enlargement,
2. hyperpigmentation of the scrotum,
3. darkening of the skin around the anus,
4. hypertrichosis,
5. the appearance of an erection,
6. in a low, rough voice,
7. the appearance of acne vulgaris,
8. masculinization,
9. accelerated bone formation,
10. short in stature.

The post-pubertal form manifests itself in teenage girls:

1. late menarche,
2. unstable menstrual cycle with irregular frequency and duration,
3. oligomenorrhea,
4. hair growth in atypical places,
5. oily skin on the face,
6. enlarged and enlarged pores,
7. masculine physique,
8. micromastia.

Abortions, miscarriages, and undeveloped pregnancies can provoke the development of this form of AGS.
In girls, the classic virile form of AGS is manifested by the intersex structure of the external genitalia: a large clitoris and extension of the urethral opening onto its head. The labia majora resemble the scrotum, in armpits and pubic hair begins to grow early, skeletal muscles are developing rapidly. Pronounced AGS does not always make it possible to determine the sex of the newborn. Sick girls look very similar to boys. Their mammary glands do not grow, menstruation is absent or becomes irregular.

Children with AGS are monitored by pediatric endocrinologists. Using modern therapeutic techniques, specialists carry out medical and surgical treatment of the syndrome, which allows the child’s body to develop correctly in the future.

AGS is not fatal dangerous illness, although some of its symptoms psychologically depress patients, which often ends in depression or a nervous breakdown. Timely detection of pathology in newborns allows sick children to adapt to society over time. When a disease is detected in children school age the situation often gets out of control.

Diagnostic measures

Diagnosis of AGS is based on anamnestic and phenotypic data, as well as the results of hormonal studies. During general examination assess the patient's figure, height, condition of the genital organs, and degree of hair growth.

Laboratory diagnostics:

• Hemogram and blood biochemistry.
• Study of the chromosome set - karyotype.
• Studying hormonal status using enzyme immunoassay, which shows the content of corticosteroids and ACTH in the blood serum.
• Radioimmunoassay determines the quantitative content of cortisol in the blood and urine.
• In doubtful cases, put correct diagnosis allows molecular genetic analysis.

Instrumental diagnostics:

1. Radiography wrist joints allows us to establish that bone age patients are ahead of the passport.
2. An ultrasound reveals the uterus and ovaries in girls. Ultrasound of the ovaries is important diagnostic value. Patients are found to have multifollicular ovaries.
3. A tomographic examination of the adrenal glands allows one to exclude a tumor process and determine the existing pathology. With AGS, the paired gland is noticeably increased in size, while its shape is completely preserved.
4. Radionuclide scanning and angiography are auxiliary diagnostic methods.
5. Aspiration puncture and histological examination punctate with study cellular composition are performed in especially severe and advanced cases.

Neonatal screening is carried out on the 4th day after the birth of the child. A drop of blood is taken from the newborn's heel and applied to a test strip. The further tactics of managing a sick child depend on the results obtained.

Treatment

AGS requires lifelong hormonal treatment. For adult women, replacement therapy is necessary for feminization, for men it is carried out to eliminate sterility, and for children in order to overcome psychological difficulties associated with the early development of secondary sexual characteristics.

Drug therapy for the disease consists of the use of the following hormonal drugs:

• For correction hormonal function adrenal glands, patients are prescribed glucocorticoid drugs - Dexamethasone, Prednisolone, Hydrocortisone.
• In case of miscarriage, Duphaston is prescribed.
• Estrogen-androgen drugs are indicated for women who do not plan pregnancy in the future - Diana-35, Marvelon.
• To normalize ovarian function it is necessary to take oral contraceptives with progestins.
• From non-hormonal drugs reduces hirsutism "Veroshpiron".

Crises of adrenal insufficiency can be prevented by increasing the dose of corticosteroids by 3-5 times. Treatment is considered effective if women's menstrual cycle has normalized, ovulation has occurred, and pregnancy has occurred.

Surgical treatment of AHS is performed for girls aged 4-6 years. It consists of correction of the external genitalia - vaginal plastic surgery, clitoridectomy. Psychotherapy is indicated for those patients who are unable to independently adapt to society and do not perceive themselves as a full-fledged person.

Prevention

If there is a family history of adrenal hyperplasia, all married couples need to consult a geneticist. Prenatal diagnosis consists of dynamic monitoring of a pregnant woman at risk for 2-3 months.

Prevention of AGS includes:

1. regular examinations by an endocrinologist,
2. newborn screening,
3. careful planning of pregnancy,
4. examination of future parents for various infections,
5. eliminating the impact of threatening factors,
6. visit to a geneticist.

Forecast

Timely diagnosis and high-quality replacement therapy make the prognosis of the disease relatively favorable. Early hormonal treatment stimulates proper development genital organs and allows you to preserve reproductive function in women and men.

If hyperandrogenism persists or cannot be corrected with corticosteroid drugs, patients remain short in stature and have characteristic cosmetic defects. This disrupts psychosocial adaptation and can lead to nervous breakdown. Adequate treatment enables women with classic forms of AGS to become pregnant, carry and give birth to a healthy child.

Video: presentation on adrenogenital syndrome

Video: adrenogenital syndrome, “Live Healthy” program

This pathology is characterized by deviations in the structure and functioning of the genital organs. The origin of the disease has not yet been established, but doctors believe that the syndrome develops due to excessive production of androgens by the adrenal cortex. The disease can be caused by various tumors or congenital gland hyperplasia.

What is adrenogenital syndrome

Congenital adrenal hyperplasia is the most common type of verulizing pathology. Adrenogenital syndrome is a disease that is known to world medicine as Apère-Gamay syndrome. Its development is associated with increased production androgens and a pronounced decrease in the levels of cortisol and aldosterone, the cause of which is congenital dysfunction of the adrenal cortex.

The consequences of deviation can be serious for a newborn, since the adrenal cortex is responsible for the production of a huge amount of hormones that regulate the functioning of most body systems. As a result of pathology in the child’s body (this can be observed in both boys and girls), there are too many male hormones and very few female ones.

Inheritance type

Each form of the disease is associated with genetic disorders: As a rule, anomalies are hereditary and pass from both parents to the child. More rare are the cases when the type of inheritance of adrenogenital syndrome is sporadic - it occurs suddenly during the formation of an egg or sperm. Inheritance of adrenogenital syndrome occurs in an autosomal recessive manner (when both parents are carriers of the pathological gene). Sometimes the disease affects children in healthy families.

Adrenogenital syndrome (AGS) is characterized by the following patterns that affect the likelihood of it affecting a child:

• if the parents are healthy, but both are carriers of the StAR gene deficiency, there is a risk that the newborn will suffer from congenital adrenal hyperplasia;
• if a woman or man is diagnosed with the syndrome, and the second partner has normal genetics, then all the children in their family will be healthy, but will become carriers of the disease;
• if one of the parents is sick and the other is a carrier of adrenogenetic pathology, then half of the children in this family will be sick, and the other half will carry the mutation in the body;
• if both parents have the disease, all their children will have similar abnormalities.

Forms

Androgenetic disease is conventionally divided into three types - virile simple, salt-wasting and post-pubertal (non-classical). The varieties have serious differences, so each patient requires a detailed diagnosis. How do forms of adrenogenital syndrome manifest themselves:

1. Viril form. It is characterized by the absence of signs of adrenal insufficiency. The remaining symptoms of AHS are fully present. This type of pathology is extremely rarely diagnosed in newborns, more often in adolescents (boys and girls).
2. Salt-wasting type. Diagnosed exclusively in infants during the first weeks/months of life. In girls, pseudohermaphroditism is observed (the external genitalia are similar to male ones, and the internal genitalia are female). In boys, salt wasting syndrome is expressed as follows: the penis is disproportionately large relative to the body, and the skin of the scrotum has a specific pigmentation.
3. Non-classical look. The pathology is characterized by the presence of unclear symptoms and the absence of pronounced adrenal dysfunction, which greatly complicates the diagnosis of AGS.

Adrenogenital syndrome - causes

Congenital adrenal dysfunction is explained only by the manifestation hereditary disease, therefore it is impossible to acquire or become infected with such a pathology during life. As a rule, the syndrome manifests itself in newborn babies, but AGS is rarely diagnosed in young people under 35 years of age. At the same time, the mechanism of pathology can be activated by such factors as taking potent drugs, increased background radiation, side effect from hormonal contraceptives.

Whatever the stimulus for the development of the disease, the causes of adrenogenital syndrome are hereditary. The forecast looks something like this:

• if at least 1 parent in the family is healthy, the child will probably be born without pathology;
• in a couple where one is a carrier and the other is sick with AGS, in 75% of cases a sick child will be born;
• carriers of the gene have a 25% risk of having a sick child.

Symptoms

AHS is not a deadly disease, but some of its symptoms cause serious psychological discomfort to a person and often lead to a nervous breakdown. When diagnosing a pathology in a newborn, parents have the time and opportunity to help the child with social adaptation, and if the disease is detected at school age or later, the situation can get out of control.

The presence of AGS can be determined only after molecular genetic analysis. Symptoms of adrenogenital syndrome that indicate the need for diagnosis are:

• non-standard pigmentation of the child’s skin;
• steady increase in blood pressure;
• low growth inappropriate for the child’s age (due to the rapid completion of the production of the corresponding hormone, growth stops early);
• periodic seizures;
• digestive problems: vomiting, diarrhea, strong gas formation;
• in girls, the labia and clitoris are underdeveloped or, on the contrary, have increased sizes;
• boys have external genitalia disproportionately big sizes;
• girls with AGS experience problems with menstruation, conceiving a child (infertility often accompanies the disease), and bearing a fetus;
• Female patients often experience male-pattern hair growth on the genitals; in addition, growth of mustaches and beards is observed.

Adrenogenital syndrome in newborns

The disease can be detected on early stage in newborn children, which is associated with neonatal screening on the 4th day after the birth of the child. During the test, a drop of blood from the baby's heel is applied to a test strip: if the reaction is positive, the child is transferred to an endocrinology clinic and re-diagnosis is performed. Once the diagnosis is confirmed, treatment for AGS begins. If adrenogenital syndrome in newborns is detected early, then therapy is easy; in cases of late detection of adrenogenetic pathology, the complexity of treatment increases.

In boys

The disease usually develops in male children from the age of two or three. Increased physical development occurs: the genitals enlarge, active hair growth occurs, and erections begin to appear. In this case, the testicles lag behind in growth, and subsequently stop developing altogether. As in girls, adrenogenital syndrome in boys is characterized by active growth, but it does not last long and in the end the person still remains short and stocky.

For girls

Pathology in girls is often expressed immediately at birth in the virile form. False female hermaphroditism, characteristic of AGS, is characterized by an increased size of the clitoris, while the opening urethra is located directly under its base. Labia in in this case resemble in shape a split male scrotum (the urogenital sinus is not divided into the vagina and urethra, but stops developing and opens under the penis-shaped clitoris).

It is not uncommon for adrenogenital syndrome in girls to be so pronounced that at the birth of a baby it is difficult to immediately determine its gender. During the period of 3-6 years, the child actively grows hair on the legs, pubic area, and back, and the girl becomes very similar in appearance to a boy. Children with AHS grow much faster than their healthy peers, but their sexual development soon stops completely. At the same time, the mammary glands remain small, and menstruation is either completely absent or appears irregularly due to the fact that the underdeveloped ovaries cannot fully perform their functions.

Diagnosis of adrenogenital syndrome

The disease can be identified using modern research hormonal levels and at visual inspection. The doctor takes into account anamnestic and phenotypic data, for example, hair growth in places atypical for a woman, development of the mammary glands, male body type, general appearance/health of the skin, etc. AHS develops due to a deficiency of 17-alpha-hydroxylase, so the patient’s blood can monitor the level of the hormones DHEA-S and DHEA, which are precursors of testosterone.

Diagnosis also includes a urine test to determine the 17-KS level. Biochemical analysis blood allows you to determine the level of hormones 17-OHP and DHEA-S in the patient’s body. Comprehensive diagnostics, in addition, implies the study of the symptoms of hyperandrogenism and other dysfunctions endocrine system. In this case, the indicators are checked twice - before the test with glucocorticosteroids and after it. If during the analysis the hormone level is reduced to 75% or more, this indicates the production of androgens exclusively by the adrenal cortex.

In addition to hormone tests, the diagnosis of adrenogenital syndrome includes an ultrasound of the ovaries, in which the doctor determines anovulation (it can be detected if follicles of different levels of maturity are observed, not exceeding preovulatory volumes). In such cases, the ovaries are enlarged, but the volume of the stroma is normal and there are no follicles under the organ capsule. Only after a detailed examination and confirmation of the diagnosis begins treatment of adrenogenital syndrome.

Adrenogenital syndrome - treatment

ABC is not a fatal pathology with a lethal outcome, so the likelihood of developing irreversible changes in the patient’s body is extremely low. Nevertheless modern treatment adrenogenital syndrome cannot boast of its effectiveness and efficiency. Patients with this diagnosis are forced to take hormonal medications for life to compensate for the deficiency of glucocorticosteroid hormones and to combat feelings of inferiority.

The prospects for such therapy remain unexplored, but there is evidence that there is a high probability of developing concomitant AGS pathologies of the heart, bones, blood vessels, gastrointestinal tract, and cancer. This explains the need for people with adrenal cortex dysfunction to undergo regular examinations - x-rays of bones, electrocardiogram, ultrasound of the peritoneum, etc.

Video

Adrenal glands - glands internal secretion, which produces many important biological substances. Their outer layer, or cortex, in particular, is responsible for the synthesis of androgens - male sex hormones. With pathological activation of the adrenal cortex, their secretion of androgens also increases. This leads to the development of a complex of disorders of the reproductive and endocrine systems.

Most often, the disease occurs with hereditary enlargement of the adrenal cortex. This pathology is present in the baby from the first days of life, but clinically manifests itself later, so the child may look completely healthy.

The congenital disease leads to excessive secretion of adrenal androgens. These male sex hormones are normally synthesized in the body of every woman, but in small quantities. With their excess, masculinization, virilization (acquisition of male external characteristics) and even hermaphroditism appear. Violated reproductive health women.

The disease occurs when there is a deficiency of the enzyme 21-hydroxylase in the body. This happens in 1 case in 10,000 - 18,000 births.

Causes

There are 2 main causes of adrenogenital syndrome:

• hereditary defect of 21-hydroxylase;
• acquired adrenal tumor that synthesizes excess hormones.

Signs of adrenogenital syndrome in most cases are inherited. The type of inheritance of the disease is autosomal recessive. This means that if one of the parents is a carrier of a pathological gene, and the other is healthy, in 50% of cases they will be born healthy child, and 50% is a carrier. Such parents cannot have a sick baby.

If both parents are carriers of the pathological gene, then with a 25% probability they will be born healthy baby, 25% are sick, and 50% are gene carriers. When planning a family, family members of the patient should consult a medical geneticist about the risk of the disease in their offspring.

Congenital adrenal hyperplasia can also occur in boys, but most often affects girls. They have genetic defect, responsible for the deficiency of the enzyme 21-hydroxylase. This substance is responsible for the production of the hormones cortisol and aldosterone, and in its absence the production of male hormones - androgens - is activated. Therefore, signs of virilization or hermaphroditism appear.

Sometimes there is a deficiency of other adrenal cortex enzymes. However, there are some features of the symptoms.

Symptoms of the disease

External signs diseases in girls - relatively high growth in childhood. However, they quickly stop growing, and in adulthood they are lower than healthy women. Usually they develop normal internal genital organs - the uterus and appendages.

The main symptoms of adrenogenital syndrome:

• absence of menstruation or irregular, rare and scanty bleeding;
• low voice;
• early appearance of pubic and armpit hair during puberty;
• excessive hair growth on the face and body (hirsutism);
• specific appearance: “male” type physique;
• external genitalia may resemble male ones; the labia imitate the scrotum, there is a large clitoris resembling a penis.

Sometimes information about a disease can only be obtained through genetic testing.

This pathology appears in boys from the age of 3 years. At first, the child grows quickly, but this process is quickly completed, and the man's height remains below average. The penis is enlarged, secondary sexual characteristics are expressed. Early puberty is observed, although the testicles often do not function, meaning the man is infertile.

In more rare cases of deficiency of other enzymes, patients experience high blood pressure, female-type hermaphroditism in boys, and underdeveloped genitals.

Prevention congenital disease– timely genetic consultation for couples planning to conceive a child.

Forms

There are 3 forms of adrenogenital syndrome.

The classic virile form is accompanied by an excess of androgens with a deficiency of aldosterone and cortisol. Children experience rapid but short-term growth. Their external genitalia are formed according to the male type. In severe cases, girls are diagnosed with hermaphroditism - the external sex is male, but the internal genital organs are female.

The salt-wasting form of the disease is accompanied by a significant deficiency of the hormone aldosterone and corticoids. The condition of the newborn worsens in the first days after birth. Vomiting, diarrhea and severe dehydration. Acute adrenal insufficiency occurs - a life-threatening disorder. At similar symptoms In a newborn, you should immediately consult a doctor.

The post-pubertal form appears only in girls and women. Usually they have normally formed genitals, but there is an excess of androgens. It manifests itself as facial hair growth, acne, and menstrual cycle, infertility.

Diagnosis of the disease

An endocrinologist diagnoses and treats this disease. Depending on the form of the disease, diagnosis of adrenogenital syndrome can be carried out both in infants and at a later age. The disease is classified into one type or another according to the appropriate classification, using the following studies:

• the patient’s appearance, the shape of the external genitalia (clitoral hypertrophy, penis enlargement);
• clinic – complaints of infertility, menstrual irregularities, facial hair growth;
• hormonal and genetic testing.

• increased 17-hydroxyprogesterone;
• increased serum dehydroepiandrosterone sulfate;
• increase in 17-ketosteroids in urine;
• decrease in aldosterone and cortisol in the blood;
• normal or low urinary excretion of 17-hydroxycorticosteroids.

To confirm the diagnosis, a chromosomal study is necessary.

Additional information X-ray of bones gives: in adolescents with this disease, the growth plates close early, which is reflected in the X-ray.

The pathology was recorded in photographs taken back in the 19th century, when people with this disease were shown at exhibitions and in circuses.

Treatment

To eliminate the manifestations of the disease, modern surgical techniques and hormonal therapy are used. Treatment of adrenogenital syndrome begins from the moment the diagnosis is confirmed. Timely therapy and surgery help to avoid severe complications– adrenal insufficiency, and then infertility.

Immediately after birth, doctors must correctly determine the sex of the child. If there is any doubt, a chromosomal study - karyotyping - is prescribed. It helps determine the genetic sex of the newborn. Girls with genital pathology undergo surgery at the age of 1–3 months.

The disease in newborns requires hormone replacement therapy to restore normal level aldosterone and cortisol. For this purpose, daily injections of these drugs are prescribed. Injection administration lasts up to 18 months.

After this, the pathology in children is treated using hormonal drugs in tablet form. Correctly selected treatment can achieve normal height and child development, despite adrenal hyperplasia.

If necessary, carried out plastic surgery on the genitals. They are adjusted according to the genetic sex of the child.

The disease often does not manifest itself in women. In this case we're talking about about the non-classical form of the disease. Its treatment is carried out only for infertility and severe cosmetic defects. Approximately half of patients with this variant of the disease do not require treatment.

Therapy aimed at reducing virilization, normalizing hormonal levels, stimulating sexual development and the possibility of bearing a child is carried out by many clinics in Moscow and other cities. In most cases, the prognosis for life and health is favorable.

Video about adrenogenital syndrome

Adrenogenital syndrome is a very specific pathology, but not very well known. In a sense, it can serve as a sad illustration of the fairy tale about Tsar Saltan by Alexander Sergeevich Pushkin, but this does not make it any easier for the patients themselves. Remember the famous lines, the meaning of which most people hardly think about: “the queen gave birth to either a son or a daughter that night”? Are you sure that this is exclusively the author’s metaphor? Nothing like this! Such “symptoms” do sometimes occur, both in boys and girls, but this does not mean that the child is a hermaphrodite. The pathology is known throughout the world medical practice under different names: congenital hyperplasia (dysfunction) of the adrenal cortex or Aper-Gama syndrome, but domestic experts prefer the more traditional definition of “adrenogenital syndrome in children,” although it is not entirely correct. What is this: a sad joke of nature, an ordinary genetic pathology, or a rare medical phenomenon, which is almost impossible to encounter in real life? Let's figure it out together.

The essence of the problem

The human body is an extremely complex system, therefore the failure of one node often leads to serious problems throughout the “mechanism”. So, if for one reason or another the functioning of the adrenal glands (more precisely, their cortex) is disrupted, the consequences can be very sad, because these endocrine glands are responsible for the production of many hormones that regulate the functioning of all organs and systems of the body. Adrenogenital syndrome is characterized by increased secretion androgens and a significant decrease in aldosterone and cortisol levels. In other words, in the body of a newborn (this applies equally to both boys and girls) there are too many male hormones and negligible female hormones.

It’s not hard to guess what this might lead to. We will talk about symptoms and clinical manifestations a little later, but in any case, it would be a big mistake to call such a baby defective. Unlike other adults, whose gender is guessed with great difficulty, a child with a congenital genetic pathology definitely not guilty of anything. However, inertia of thinking and bad habit putting tags on everything is a terrible force, so newborns of the “middle sex” (the term alone is worth it!) will not have the most pleasant fate. But when the right approach(not in last resort this concerns medical personnel) such a scenario can be completely avoided. Correct and timely diagnosis, adequate treatment and an individual (!) approach to each patient will significantly reduce the likelihood that the child will turn into an outcast.

Classification

In respectable scientific works adrenogenital syndrome (AGS) is conventionally divided into three types: salt-wasting, simple virile and neoclassical (post-pubertal). They differ quite strongly, therefore another bad practice of domestic healthcare - diagnosis solely on the basis of several clinical manifestations - is completely unacceptable.

Causes

AGS is explained solely by the manifestation of hereditary pathology, therefore it is impossible to “get sick” with it in the usual sense of the word. Most often it manifests itself in newborns, but sometimes patients are not aware of their problem until they are 30-35 years old. In the latter case, factors that are not obvious at first glance can “trigger” the mechanism: increased background radiation, treatment strong drugs or by-effect from the use of hormonal contraceptives.

Adrenogenital syndrome is transmitted in an autosomal recessive manner, based on which it is possible to predict the likelihood of developing pathology:

• one of the parents is healthy, the other is sick: the child will be born healthy;
• both father and mother are carriers defective gene: probability of having a sick child is 25%;
• one of the parents is sick, and the other is a carrier of the mutation: in 3 cases out of 4 (75% of cases) the child will be sick.

Symptoms

Some may find them funny or indecent, but, fortunately, there are almost no such “uniques” left now. AGS cannot be called fatal dangerous pathology, but some symptoms can cause a person a lot of unpleasant moments or even lead to a nervous breakdown. If AGS is detected in a newborn, parents have time to help the child with social adaptation. But if a schoolchild is diagnosed, the situation often gets out of control, which in some cases can lead to the most unpredictable consequences. Themselves clinical manifestations the following:

In addition, “boys” are disproportionately characterized by big penis, and patients with the non-classical form of AGS often complain of problems with conception and pregnancy, which makes them less likely to become mothers (in the absence of adequate treatment) they have practically none.

Diagnostics

As we have already said, recognizing AGS is quite difficult. The classical approach to diagnosis, which involves collecting a detailed history, analyzing past diseases and having a detailed conversation with the patient, turns out to be untenable. The reason for this situation lies in the age of most patients (newborns, children of primary school age and adolescents). And given the formal approach to school medical examinations, it is not surprising that many people learn about their diagnosis as adults.

And if you “forget” for a while about the initial medical examination, there are only two effective and at the same time universal methods for recognizing AGS:

1. Determination of the level of hormones produced by the adrenal cortex.
2. Blood test for the presence of 17-hydroxyprogesterone

To confirm the diagnosis, in-depth genetic research may be required, but the cost of such a procedure does not allow it to be recommended as a universal diagnostic method.

Treatment and prognosis

AGS is not a fatal pathology, therefore we can talk about the likelihood of the development of irreversible changes in the body that can lead to fatal outcome, fortunately, it is not necessary. But if you ask whether there are currently effective methods for treating adrenogenital syndrome, the answer will be negative. Patients with AGS are forced to “sit” on replacement therapy for the rest of their lives. hormone therapy, allowing to compensate for the deficiency of glucocorticosteroid hormones.

The long-term prospects of such treatment are not fully understood, but there is evidence indicating a high likelihood of developing cardiovascular pathologies, organ diseases gastrointestinal tract, and malignant neoplasms. But in this case, the benefit of treatment significantly outweighs the potential risk.

Currently, research is underway to treat AHS through adrenal transplantation, but it has not yet left the experimental phase. When the technology is developed, we can assume an extremely high cost of the operation and a considerable risk of side effects.

Prevention

How much effective methods, which would allow one to “insure” against ASG do not exist. This is explained by the fact that its occurrence is influenced not by internal or external factors risk, but genetic predisposition. Therefore, the only thing possible way prevention is planning future pregnancy with mandatory genetic analysis of both spouses. The cost of such a study is quite high, so it cannot be recommended to every couple without taking into account financial capabilities.

Exposure to ionizing radiation and poisoning with potent drugs must also be recognized as a factor that can trigger the activation of a defective gene. toxic substances. At the same time, there is no need to talk about prevention, but during the period of conceiving a child and bearing it, it is still better to refrain from visiting nuclear test sites and walking through areas with a depressing environmental situation.

Instead of a conclusion

We usually try to refrain from any advice that implies blind adherence to one dogma or another. And this is by no means a matter of arrogant attitude towards readers. Rather, on the contrary: we do not consider our own opinion to be the only correct one, therefore we prefer to give you the whole necessary information, and not generalized recipes for all occasions. But AGS is a special case.

We will not remind you once again that a child who has been given an “unpleasant” diagnosis is not an outcast or a circus bear designed to amuse the public. And in any case, you will love him and protect him, although you should not once again focus on gender. On the other hand, super-close guardianship can do him a disservice, and an excuse like “he’s unusual, he might be offended” is just an attempt to protect him from the outside world, doomed to failure. Helping and supporting is one thing, but living life for him, turning a living person into a mannequin, is completely different.