Adrenogenital syndrome symptoms. Adrenogenital syndrome: a disease in newborns

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Adrenogenital syndrome

What is Adrenogenital Syndrome -

Adrenogenital syndrome- a group of autosomal recessively inherited disorders of the synthesis of corticosteroids. More than 90% of all cases of adrenogenital syndrome are due to 21-hydroxylase deficiency.

What provokes / Causes of Adrenogenital Syndrome:

The 21-hydroxylase enzyme gene is located on the short arm of chromosome 6. There are two genes - an active CYP21-B gene encoding 21-hydroxylase and an inactive CYP21-A pseudogene. These genes are largely homologous. The presence of a homologous DNA sequence next to the coding gene often leads to mating disorders in meiosis and, as a result, to gene conversion (moving an active gene fragment to a pseudogene) or to deletion of a part of the sense gene. In both cases, the function of the active gene is impaired. On chromosome 6 next to the CYP21 genes are HLA genes, which are inherited codominantly, as a result of which all homozygous siblings will have an identical HLA haplotype

Pathogenesis (what happens?) During Adrenogenital Syndrome:

The pathogenetic essence of adrenogenital syndrome is the inhibition of the production of some corticosteroids while increasing the production of others due to a deficiency of one or another enzyme that provides one of the stages of steroidogenesis. As a result of P450c21 deficiency, the process of transition of 17-hydroxyprogesterone to 11-deoxycortisol and progesterone to deoxycorticosterone is disrupted.

Thus, depending on the severity of the enzyme deficiency, a deficiency of cortisol and aldosterone develops. Cortisol deficiency stimulates the production of ACTH, the effect of which on the adrenal cortex leads to its hyperplasia and stimulation of the synthesis of corticosteroids - steroidogenesis is shifted towards the synthesis of excess androgens. Adrenal hyperandrogenism develops. The clinical phenotype is determined by the degree of activity of the mutated CYP21-B gene. With its complete loss, a salt-losing variant of the syndrome develops, in which the synthesis of glucocorticoids and mineralocorticoids is disrupted. With moderate activity of the enzyme, mineralocorticoid deficiency does not develop due to the fact that the physiological need for aldosterone is about 200 times lower than for cortisol. There are 3 variants of 21-hydroxylase deficiency:

21-hydroxylase deficiency with salt-wasting syndrome;

simple viril form (incomplete deficiency of 21-hydroxylase);

non-classical form (post-puberty).

The prevalence of adrenogenital syndrome varies greatly among different nationalities. Among representatives of the European race, the prevalence classic options(salt-wasting and simple) 21-hydroxylase deficiency is approximately 1 in 14,000 newborns. This indicator is significantly higher in Jews (non-classical form of 21-hydroxylase deficiency - up to 19% of Ashkenazi Jews). Among the Eskimos of Alaska, the prevalence of classic forms of 21-hydroxylase deficiency is 1 in 282 newborns.

Symptoms of Adrenogenital Syndrome:

Salt-wasting form of 21-hydroxylase deficiency

An excess of androgens since the early stages of fetal development, in newborn girls causes the intersex structure of the external genitalia (female pseudohermaphroditism). The severity of changes varies from simple hypertrophy of the clitoris to complete masculinization of the genitals: a penis-shaped clitoris with an extension of the urethral opening onto its head. The structure of the internal genitalia in fetuses with a female genotype with adrenogenital syndrome is always normal. Boys have an enlarged penis and hyperpigmentation of the scrotum. In the absence of treatment in the postnatal period, there is a rapid progression of virilization. The growth zones of bones quickly close, as a result of which adult patients, as a rule, have short stature. In girls, in the absence of treatment, primary amenorrhea is determined, associated with the suppression of the pituitary-ovarian system by an excess of androgens.

Adrenal insufficiency(deficiency of aldosterone and cortisol) is manifested by symptoms such as sluggish sucking, vomiting, dehydration, metabolic acidosis, increasing adynamia. Electrolyte changes and dehydration characteristic of adrenal insufficiency develop. These symptoms in most cases manifest between the 2nd and 3rd week after the birth of the child. One of the manifestations of glucocorticoid deficiency is progressive hyperpigmentation.

Simple viril form of 21-hydroxylase deficiency develops due to a moderate deficiency of the enzyme, while the salt-losing syndrome (adrenal insufficiency) does not develop. But a pronounced excess of androgens, starting from the prenatal period, causes the manifestations of virilization described above.

Non-classical (post-pubertal) form of 21-hydroxylase deficiency

Prenatal virilization of the external genitalia and signs of adrenal insufficiency are absent. Clinical picture varies considerably. Most often, this form of the syndrome is diagnosed in women of reproductive age during a targeted examination for oligomenorrhea (50% of patients), infertility, hirsutism (82%), acne (25%). In some cases, there are practically no clinical manifestations and reduced fertility.

Diagnosis of Adrenogenital Syndrome:

The main marker of 21-hydroxylase deficiency is high level the precursor of cortisol, 17-hydroxyprogesterone (17-OHPg). Normally, it does not exceed 5 nmol / l. A 17-OHPg level greater than 15 nmol/L confirms a 21-hydroxylase deficiency. In most patients with classical forms of adrenogenital syndrome, the level of 17-OHPg exceeds 45 nmol/l.

In addition, 21-hydroxylase deficiency is characterized by increased levels of dehydroepiandrosterone (DHEA-S) and androstenedione. The salt-losing form typically has elevated plasma renin levels, reflecting aldosterone deficiency and dehydration. In classical forms, along with this, the level of ACTH is increased.

Treatment of Adrenogenital Syndrome:

At classical forms children are given hydrocortisone tablets daily dose 15-20 mg / m 2 body surface or prednisone 5 mg / m 2. The dose is divided into 2 doses: 1/3 Dose in the morning, 2/3 dose at night for maximum suppression of ACTH production by the pituitary gland. In the salt-losing form, the appointment of fludrocortisone (50-200 mcg / day) is additionally necessary. With severe comorbidities and surgical interventions, the dose of glucocorticoids must be increased. With a late diagnosis of the viril form of adrenogenital street syndrome with a genetically female sex, surgical interventions for plastic surgery of the external genitalia may be required. Post-pubertal (non-classical) form of adrenogenital syndrome due to 21-hydroxylase deficiency requires therapy only in the presence of severe cosmetic problems (hirsutism, acne) or reduced fertility.

Forecast

In classical forms, it fully depends on the timeliness of the diagnosis (prevents the development of severe violations of the structure of the external genitalia in girls) and the quality of the ongoing replacement therapy, as well as the timeliness of plastic surgery on the external genitalia. Persistent hyperandrogenism or, conversely, an overdose of corticosteroids contributes to the fact that most patients remain small in stature, which, along with possible cosmetic defects (mask lining of the figure in women), disrupts psychosocial adaptation. With adequate treatment in women with classic forms of adrenogenital syndrome (including salt-losing), the onset and normal gestation of pregnancy is possible.

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Other diseases from the group Diseases of the endocrine system, eating disorders and metabolic disorders:

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breast adenoma

Adiposogenital dystrophy (Perchkrantz-Babinski-Fröhlich disease)

Acromegaly

Alimentary insanity (alimentary dystrophy)

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Alkaptonuria

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Krabbe disease (globoid cell leukodystrophy)

Niemann-Pick disease (sphingomyelinosis)

Fabry disease

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Gangliosidosis GM1 type III

Gangliosidosis GM2

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Hypervitaminosis A

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Hyperkalemia

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Type I hyperlipoproteinemia

Hyperlipoproteinemia type II

Type III hyperlipoproteinemia

Type IV hyperlipoproteinemia

Type V hyperlipoproteinemia

Hyperosmolar coma

Hyperparathyroidism secondary

Hyperparathyroidism primary

Hyperplasia of the thymus (thymus gland)

Hyperprolactinemia

testicular hyperfunction

Hypercholesterolemia

hypovolemia

Hypoglycemic coma

hypogonadism

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Hypogonadism isolated (idiopathic)

Hypogonadism primary congenital (anorchism)

Hypogonadism, primary acquired

hypokalemia

Hypoparathyroidism

hypopituitarism

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Glycogenosis type IX (Hag's disease)

Type V glycogenosis (McArdle disease, myophosphorylase deficiency)

Type VI glycogenosis (Hers disease, hepatophosphorylase deficiency)

Type VII glycogenosis (Tarui disease, myophosphofructokinase deficiency)

Glycogenosis type VIII (Thomson's disease)

Glycogenosis type XI

Type X glycogenosis

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Deficiency (insufficiency) of magnesium

Deficiency (insufficiency) of manganese

Deficiency (insufficiency) of copper

Deficiency (insufficiency) of molybdenum

Deficiency (insufficiency) of chromium

iron deficiency

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Zinc deficiency (alimentary zinc deficiency)

diabetic ketoacidotic coma

Ovarian dysfunction

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xanthinuria

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Generalized congenital lipodystrophy (Sape-Lawrence syndrome)

Lipodystrophy hypermuscular

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Lipomatosis

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Metachromatic leukodystrophy

Myxedema coma

Cystic fibrosis (cystic fibrosis)

This pathological form is also known as congenital adrenal hyperplasia, or congenital adrenal dysfunction (as opposed to acquired adrenogenital syndrome, which is usually associated with the presence of a tumor of the adrenal cortex). In previous years, congenital adrenal hyperplasia was interpreted as pseudohermaphroditism (virile syndrome) in girls and macrogenitosomia praecox (false early puberty) in boys.

Etiology

The etiology of the disease has not been definitively established. hereditary factor confirmed by the disease of several children in one mother; at the same time, apparently, the birth of a child with congenital dysfunction of the adrenal cortex depends on the condition of the mother. The hereditary factor in this pathology is established in approximately 24% of cases.

Pathogenesis

Numerous studies of impaired synthesis steroid hormones in the adrenal cortex in children with congenital adrenogenital syndrome, which have been carried out since 1950, made it possible to put forward general concept pathogenesis of this syndrome. As a result of a violation of a number of enzymatic systems that ensure the correct synthesis of adrenal hormones, with adrenogenital syndrome, the production of cortisol (hydrocortisol) is sharply reduced; due to a decrease in the level of cortisol in the blood, the production of ACTH by the pituitary gland increases compensatory. Indeed, in such patients, elevated levels of ACTH are sometimes found in the blood. Constant stimulation of the adrenal glands with corticotropin, on the one hand, leads to hyperplasia of the reticular zone of the cortex, and on the other hand, to hyperproduction of male sex hormones (androgens), the excess of which in the blood causes virilization of the body.

A number of studies conducted in the same years made it possible to establish that various clinical options adrenogenital syndrome are determined by blocks of enzyme systems at individual stages of the synthesis of corticosteroids.

The first of the blocks in the way of the synthesis of corticosteroid hormones was identified at the stage of conversion of cholesterol to pregnenolone. Such a lesion is extremely rare. The formation of all types of hormones is disrupted, and as a result, total adrenocortical insufficiency occurs, incompatible with life. The baby dies either in the womb or immediately after birth. Due to the loss of the normal effect of androgens on the urogenital development of the fetus, the female-type Müllerian duct system remains undifferentiated even with the male genotype. Therefore, a child born with such enzymatic disorder has female external genitalia, but in reality is a male pseudohermaphrodite. A very characteristic feature of this variant of adrenogenital syndrome is lipoid hyperplasia of the adrenal cortex, ovaries or testicles.

Most common type perinatal adrenogenital syndrome is a condition caused by blockade of oxidation. With a deficiency of the enzyme 21-hydroxydase, the normal formation of 11-deoxycortisol and cortisol from 17alpha-hydroxyprogesterone and 11-deoxycorticosterone from progesterone is disrupted (with a deficiency in the formation of aldosterone as well). In about 2/3 of the cases, this block is partial, and then enough aldosterone is formed to minimize sodium loss, and cortisol formed in small amounts prevents severe symptoms adrenal insufficiency. At the same time, freely synthesized androgens, constantly stimulated by an excess of ACTH, cause masculinization of the child's body with a significant increase in the penis in boys and the development of false hermaphroditism in girls.

Under the influence of hyperproduction of ACTH, progesterone derivatives are also intensively formed, of which the most characteristic is an increase in the content of pregnantriol, which is excreted into the urine per day in an amount of more than 2 mg ( upper limit norms). In about 1/3 of patients with adrenogenital syndrome, the formation of cortisol and aldosterone is very low, and then a picture of a severe, salt-losing type of adrenogenital syndrome unfolds.

Finally, blocking the enzyme that provides 11-hydroxylation disrupts the synthesis of cortisol and aldosterone. But since this produces an excess of 11-deoxycorticosterone (aldosterone precursor), which itself has a pronounced mineralocorticoid activity, the electrolyte balance of the body is not disturbed and hypertension develops. Consequently, in this variant of congenital adrenal hyperplasia, masculinization phenomena are combined with hypertensive syndrome. It has been proven that in the hypertensive form of adrenogenital syndrome, the adrenal cortex also secretes a large number of compounds "S-Reichstein" or 11-deoxycortisol, which is excreted in the urine as the substance "tetrohydro-S". There is usually little pregnantriol in the urine.

Thus, with excessive production of androgenic hormones due to a violation of the biosynthesis of cortisol in the daily urine, the content of androgens, which are excreted as 17-ketosteroids, increases. The question of which androgenic compound or group of compounds with androgenic activity plays a role in congenital adrenal hyperplasia.

Congenital adrenogenital syndrome in an 11-month-old girl. a - the appearance of the child, b - clitoral hypertrophy

Symptoms of congenital adrenogenital syndrome

Clinical forms of congenital dysfunction of the adrenal cortex. congenital hyperplasia adrenal gland can develop in children of both sexes, but in girls it is somewhat more common. However, salt loss syndrome is more common in boys. The most widespread clinical division of adrenogenital syndrome proposed by Wilkins into viril (simple), salt-losing and hypertensive forms; the first (virile) form is also called compensatory. These forms have clear clinical symptoms and in children appear in the postnatal and prepubertal periods. It should be pointed out that virilization of the body to some extent is present in the salt-wasting syndrome and in the presence of hypertension.

The most common is the virilous form of the disease. Symptoms of the disease in girls usually appear already at birth, less often in the first years of the postnatal period. In boys, penis growth and body hair develop in the 2nd or 3rd year of life, making it difficult early diagnosis diseases.

As mentioned above, in girls, a simple viril type of adrenogenital syndrome is expressed in a picture of false hermaphroditism. Already from birth, an enlarged clitoris is found, which, gradually increasing, begins to take the form of a male penis. The urinary opening opens, however, at the base of the penis-shaped clitoris. Could be urogenital sinus. Large shameful lips look like a split scrotum. Changes in the external labia are sometimes so pronounced that it is difficult to determine the sex of the child. If we add to this that a girl already at the age of 3-6 years has excessive hair growth on her pubis, legs, back, it accelerates physical development, muscle strength increases and male architectonics is emphasized, it is not surprising that a child is often mistaken for a boy with bilateral cryptorchidism. Such a transformation of the female body into a male one can only be in the absence of proper treatment. As for the violation of the genital organs, according to the recommendations of Wilkins, three degrees of these changes should be distinguished: I degree - the disease developed in the second half of the prenatal period, there is only a hypertrophied clitoris, II degree - the end of the first half of pregnancy, in addition to the enlarged clitoris, there is a urogenital sinus , III degree - dysfunction of the adrenal glands occurred in the first months of intrauterine life of the fetus, the external genitalia are formed according to male type. This means that the earlier hypersecretion of androgens occurs in the prenatal period, the more the genitals will be changed. Most often you have to deal with III degree changes in the external genitalia.

Naturally, in such girls, puberty does not occur in the future, mammary glands do not appear and menstruation is absent.

In boys, as noted, adrenogenital syndrome begins to manifest itself only from 2-3 years. Since that time, there has been an increased physical and false puberty of the child. Rapid growth, increased development of muscles, enlargement of the penis, excessive hair growth, the appearance of pubic hair make such a child look like an adult man. Early developed boys may have erections, sometimes there is a sexual feeling, but in the presence of a child's psyche. Naturally, in such children, the testicles are in an infantile state and do not develop further.

Both girls and boys accelerated growth eventually stops due to the early closure of the epiphyseal growth zones. As a result, such children, despite the high growth rate in the first years of life, remain short in the future.

Somewhat less often, congenital adrenogenital syndrome can be combined with a significant electrolyte imbalance. Wilkins would classify this as salt-wasting adrenogenital syndrome.

Along with the symptom complex of virilism, indicating hyperproduction of corticosteroids with androgenic activity, these children have reduced glucocorticoid and mineralocorticoid functions of the adrenal cortex. The origin of electrolyte imbalance in adrenogenital syndrome is not fully understood. It is suggested that there is a deficiency (or absence) of the hormone that retains salt in the body - aldosterone. So, in 1959, Blizzard and Wilkins found that with a simple viril form of the disease, aldosterone secretion occurs normally; in the salt-losing form of adrenogenital syndrome, the level of aldosterone in the blood was lowered. At the same time, Prader and Velasco in 1956 noted the possibility of secretion by the adrenal cortex of hormones that increase the excretion of sodium from the body. These hormones appear to be distinct from aldosterone.

Macrogenitosomia in a 3-year-old boy with congenital adrenogenital syndrome.

Thus, the salt-losing type of adrenogenital syndrome is a typical example of congenital dysfunction of the adrenal cortex: on the one hand, increased release of androgens into the blood, on the other hand, a deficiency in the production of cortisol and mineralocorticoids.

Symptoms of salt wasting syndrome usually develop in children in the first weeks or in the first year of life. This form is more common in boys. The course of the disease is severe and is associated with increased excretion of sodium and chlorides from the body and simultaneous hyperkalemia. Patients develop repeated vomiting, exicosis occurs, and weight decreases. The child is irritable at first, but can quickly fall into a state of prostration: facial features are sharpened, the skin is grayish-dark, collapse occurs and, if vigorous treatment is not started, the patient dies. This condition sometimes develops acutely according to the type of Addisonian crisis. In addition, death may occur suddenly and without prior collapse. Apparently, in such cases, it is the result of hyperkalemia. Even receiving appropriate therapy (cortisone, salt), a child with a salt-losing form of adrenogenital syndrome is not guaranteed against acute development crisis. This is possible, for example, with the addition of an intercurrent infection. The introduction of cortisone in addition to the previously prescribed dose and saline solution quickly improves the patient's condition.

In such cases, pediatricians often suggest pyloric stenosis or acute toxic dyspepsia. parenteral administration For these children, a saline solution temporarily improves the patient's condition, but without the systematic administration of cortisone, a relapse of the disease occurs again. Correct recognition of the nature of the disease is facilitated in cases where girls simultaneously have a picture of pseudohermaphroditism. In boys, the diagnosis is complicated by the fact that their virilization occurs later, and the somewhat hypertrophied penis in the newborn is not paid due attention.

The diagnosis is decided by an increased content of 17-ketosteroids in the urine for a given age. Helps in the diagnosis of high plasma levels of potassium and low sodium. The electrocardiogram often has a typical hyperkalemia appearance.

The third type of adrenogenital syndrome is quite rare - its hypertonic form. It is caused by a violation of 11-C-hydroxylation on last step synthesis of cortisol with excessive release of deoxycorticosterone into the blood, which can increase blood pressure. These patients, in addition to hypertension, have all the symptoms viril syndrome. Cortisone therapy contributes to lowering blood pressure in patients.

Thus, adrenogenital syndrome in children is a congenital dysfunction of the adrenal cortex. All forms are characterized by a deficiency in the formation of hydrocortisone (cortisol). In the salt-losing form, in addition, the synthesis of mineralocorticoids is impaired, and in the hypertonic type, the precursor of aldosterone, deoxycorticosterone, is intensively formed.

Despite the fact that cortisol synthesis is impaired in congenital dysfunction of the adrenal cortex, disorders carbohydrate metabolism are rare. However, hypoglycemia with repeated hypoglycemic crises (without electrolyte disturbances) is possible.

Partial hypocorticism can be expressed in skin pigmentation, which is often observed in such patients. In addition, in a number of children, even with a compensated form of adrenogenital syndrome, under the influence of stress, relative adrenal insufficiency can manifest itself in weakness, hypotension, and muscle pain. If patients have impaired electrolyte regulation even in a latent form, a typical salt-losing crisis occurs under the influence of stress.

It has already been pointed out that with congenital hyperplasia of the adrenal cortex, adrenogenital syndrome can be detected only in the postnatal or prepubertal period. This question has not yet been studied enough. In such cases, you should always differential diagnosis with acquired adrenogenital syndrome caused by an androgen-active tumor of the adrenal gland or ovary.

Diagnostics

The diagnosis of congenital dysfunction of the adrenal cortex is not difficult, when already at birth the child is found to have an abnormal development of the external genital organs, hirsutism, and accelerated physical development. A correctly collected anamnesis matters: the rapid development of virilization indicates the presence of a tumor of the adrenal cortex, the gradual development is more characteristic of congenital adrenogenital syndrome. In this respect great help can provide suprarenoregnography data with the introduction of oxygen through the perirenal tissue. In this way, you can examine the adrenal glands from two sides at once.

From laboratory methods research most widespread received a determination in the daily urine of the content of neutral 17-ketosteroids. With congenital hyperplasia and with tumors of the adrenal cortex, as a rule, their number is significantly increased, and in direct accordance with the degree of virilization. At 10-12 years old, daily urine can contain up to 30-80 mg of 17-ketosteroids, which significantly exceeds the age norm (up to 10 mg per day).

As a rule, with adrenogenital syndrome, plasma adrenocorticotropic activity is significantly increased.

The level in the urine of total 17-hydroxycorticosteroids in congenital adrenogenital syndrome and in tumors of the adrenal cortex is different. With tumors, the indicators are often elevated (but not always), with congenital dysfunction of the adrenal cortex - normal or low.

Partial disruption of the synthesis of cortisol in adrenogenital syndrome leads to the excretion in the urine of its metabolic products - tetrahydro derivatives. However, more often there is a more severe violation of the synthesis of cortisol, which leads to the release of metabolites of intermediate products of the synthesis of cortisol - progesterone and 17-hydroxyproheterone. This occurs when 21-hydroxylation is disturbed, and therefore, in the diagnosis of congenital adrenogenital syndrome, it is important to determine the products of progesterone and 17-hydroxyprogesterone. These products are pregnandiol (progesterone metabolite) and pregnanetriol and pregnantriolon (17-hydroxyprogesterone metabolites).

All these metabolites appear in the urine in significant amount already in early stages diseases, and their presence indicates blockade of 21-hydroxylation. It has been established that pregnandiol, pregnantriol, and pregnantriolon can accumulate in urine in virilizing adrenal adenomas, which should be taken into account in the differential diagnosis of virilous syndrome.

As can be seen from the above, it is sometimes difficult to carry out a differential. diagnosis between a tumor of the adrenal cortex and their hyperplasia. This is especially difficult with the late development of virilization. Very facilitates the task suprarenoregenography. But the tumor can occur very early and, in addition, it is sometimes so small that it is not detected on x-rays. Currently importance give a cortisone test. If a patient with adrenogenital syndrome is administered 50-100 mg of cortisone per day for 5 days (or an appropriate dose of prednisone, prednisolone or dexamethasone), then the daily excretion of 17-ketosteroids in the urine will significantly and steadily decrease. In the presence of a virilizing tumor of the adrenal cortex, urinary excretion of 17-ketosteroids does not fall. This indicates that the production of androgens in the adrenal cortex does not depend on increased secretion of ACTH into the blood. Administration of cortisone to patients with congenital adrenogenital syndrome can also reduce urinary excretion of pregnantriol.

Congenital adrenogenital syndrome should be differentiated from all types of premature sexual development: cerebral-pituitary, ovarian or testicular origin. Precocious puberty of the constitutional type or dependent on the defeat of the interstitial-pituitary region will always be true, of the isosexual type. The increase in urinary 17-ketosteroids is moderate and never exceeds adolescent levels. Found in urine increased content gonadotropins. The testicles in boys increase to the size of adults, while in adrenogenital syndrome they are underdeveloped. In doubtful cases great importance has a testicular biopsy. With adrenogenital syndrome, immature tubules and the absence of Leydig cells are found, and with other types of early sexual development, a large number of Leydig cells and spermatogenesis are found. Precocious puberty in boys is rarely associated with the presence of an interstitial cell tumor of the testis. In these cases, there is a unilateral increase in the size of the testicle; on palpation, it is dense and bumpy; the second testicle may be hypoplastic. Biopsy followed by histology of testicular tissue decides the diagnosis.

In girls, premature sexual development extremely rarely can be caused by a granulosa cell tumor of the ovary. However, this tumor is estrogen-active and premature sexual development occurs according to the female type (with adrenogenital syndrome - according to the male). Arrenoblastoma - an ovarian tumor - practically does not occur in girls with androgenic activity.

Treatment of congenital adrenogenital syndrome

It has now been firmly established that the most rational therapy for congenital dysfunction (hyperplasia) of the adrenal cortex is the administration of corticosteroid drugs (cortisone and its derivatives) to the patient. This is in the fullest sense replacement therapy, since the basis of congenital adrenogenital syndrome is a deficiency in the production of cortisol (hydrocortisone) and mineralocorticoids. At the same time, treatment and depending on the form of the disease is carried out differentially.

With a simple (virile) form of the syndrome, cortisone (prednisone or prednisolone) significantly reduces the urinary excretion of 17-ketosteroids and biologically active androgens. In this case, the process of suppression can be maintained indefinitely, for a long time, by relatively small doses of the drug, which do not have a negative effect on the metabolism.

Treatment starts with relatively large doses cortisone or its derivatives (so-called shock therapy), which can suppress the androgenic function of the adrenal glands. The degree of suppression of adrenal function is determined by the daily excretion of 17-ketosteroids and pregnantriol. This method can reduce the level of excretion of 17-ketosteroids in children early age up to 1.1 mg per day, in older children - up to 3-4 mg per day. The duration of "shock doses" of corticosteroids is from 10 to 30 days. It is preferable to administer cortisone acetate intramuscularly at 10-25 mg per day for children infancy, 25-50 mg for children 1-8 years old and 50-100 mg per day for adolescents.

You can prescribe cortisone (and its derivatives in appropriate doses) and inside.

After achieving a certain effect, they switch to long-term maintenance therapy, and the right dosage corticosteroid is determined by the level of urinary excretion of 17-ketosteroids. Cortisone is also prescribed intramuscularly (for example, half the "shock dose" 2-3 times a week) or orally (fractionally equal doses in an amount approximately twice the daily amount of the drug administered intramuscularly). Prednisone or prednisolone has an advantage over cortisone, since they more actively inhibit the production of ACTH by the anterior pituitary gland and, in addition, retain little salt in the body. For maintenance therapy, a dose of these drugs of 10-20 mg per day inhibits the excretion of 17-ketosteroids in the urine for a long time.

With salt-wasting syndrome, which occurs more often in children with congenital adrenal hyperplasia under the age of 4-5 years, urgent administration is required. table salt, cortisone and deoxycorticosterone (DOC), with doses prescribed according to the severity of the disease. In case of acute loss of salt (flowing like an Addisonian crisis), hydrocortisone is administered intravenously at the rate of 5 mg (kg) per day and 0.5-1 mg (kg) per day DOC- 1000 ml with the addition of 20% sodium chloride solution per 1 kg of body weight. The rate of administration is 100 ml of liquid per hour. With the gradual development of the syndrome, 5 mg of cortisone per 1 kg of body weight can be recommended. If necessary, add DOC 2 mg per day with a gradual increase in the dose of the drug. A good effect is provided by subcutaneous injections of crystals (100-125 mg each) of DOC, which is very slowly absorbed into the blood and maintains the electrolyte balance of the body. In hypertensive forms of the disease, DOC and other hormones that increase sodium and water retention should not be given to the patient. Achieved good effect from the use of cortisone or prednisolone. It should be stated that if patients become ill, or are subjected to surgical intervention, doses of hormones are recommended to be increased, which is especially important for salt-losing forms of adrenogenital syndrome.

Here are 2 cases of congenital dysfunction of the adrenal cortex: a 6-year-old girl with a picture of false hermaphroditism and a 5-year-old boy with macrogenitosomia praecos.

First case:

Valya P., 6 years old, congenital adrenogenital syndrome.
a - front view; b - side view; c - sharply hypertrophied penis-shaped clitoris

Valya P., aged 6, entered children's department Institute of Experimental Endocrinology and Chemistry of Hormones AMS 26/XII 1964. The child has an irregular structure of the genital organs, premature hair growth in the pubic area. The girl was born at home from the second normal pregnancy. At. birth weight is normal, the clitoris is slightly enlarged. The girl started walking at 18 months; from 3 years marked fast growth.

On admission, height 131 cm, weight 25 kg 700 g. On the skin there are aspae vulgaris. On the pubis - pronounced male-type hair growth. There are no changes in the structure of the skeleton. Heart - without features, pulse 92 beats per minute, good filling, clear heart sounds. Arterial pressure 110/65 mm. No changes in internal organs were found. The clitoris is penis-shaped, 3 cm long, erect. The urethra opens into the urogenital sinus at the root of the clitoris. There are labioruni scrotulae, in the thickness of which the testicles are not defined. A lentil-sized uterus was palpated rectally. Tumors in the small pelvis is not defined.

X-ray data: the shape and size of the Turkish saddle are not changed, bone age corresponds to 12 years.

After a test with cortisone administered intramuscularly for 7 days, the daily amount of 17-ketosteroids decreased to 5.5 mg, dehydroepiandrosterone - to 0.4 mg, 17-hydroxycorticosteroids - to 26.6 mg.

The patient was prescribed prednisolone but 5 mg 2 times a day and the hormonal profile was once again examined. The daily amount of 17-ketosteroils was 2.4 mg, 17-hydroxycorticosteroids - 3-2 mg, pregnandiol - 1.7 mg, pregnantriol - 2.2 mg, dehydroepiandrosterone - 0.7 mg.

The girl was discharged on February 15, 1965. It was prescribed to constantly take prednisone 5 mg 2 times a day under control. general condition, weight, blood pressure, 17-ketosteroids in urine

Diagnosis: congenital dysfunction of the adrenal cortex (adrenogenital syndrome), simple viril form.

Second case:
Vova R., aged 5 and a half, was admitted on December 16, 1964 to the children's department of the Institute of Experimental Endocrinology and Chemistry of Hormones of the Academy of Medical Sciences with complaints of accelerated physical and sexual development. The boy was born large - weight 4550 g. Until the age of 4, the child developed normally, but was ahead of his peers in growth. At the age of 5, the mother noticed an increase in the genitals; shortly thereafter, pubic hair appeared, growth accelerated significantly. Per Last year grew by 15 cm.

Upon admission, the height is 129.5 cm, which corresponds to the height of a 9-year-old boy, weight 26 kg 850 g. Correct physique. Arterial pressure 105/55 mm. The penis is large, there is a blurred pubic hair. Sex glands in the scrotum. The left testicle is the size of a walnut, the right testicle is the size of a cherry. Differentiation of the bones of the hand corresponds to 12 years.

Excretion with urine per day reached 26.1 mg of 17-ketosteroids, 2.4 mg of 17-hydroxycorticosteroids, and 1 mg of dehydroepiandrosterone.

The boy underwent a cortisone test, which showed a decrease in the content of 17-ketosteroids in the urine to 9.2 mg per day.

Based on the investigations, a diagnosis of congenital adrenal dysfunction was made and treatment with prednisolone was prescribed. During treatment with prednisolone, the release of 17-ketosteroids decreased to 7 mg per day. The boy was discharged with a recommendation to take prednisolone 5 mg once a day under the control of weight, height, blood pressure and hormonal profile. Follow-up consultation after 4 months.

Attention parents! A forum about adrenogenital syndrome is open on our website.

Adrenogenital syndrome (AGS) is a serious disorder that threatens both your peace of mind, health and life, as well as the condition of your children. It affects newborns, adolescents, and people middle age both sexes. Therefore, it is important to find out what are the symptoms, forms, methods of treatment and prevention of this disease. In this article, we will consider all of these aspects and make recommendations for preventing the risk of AGS in infants.

Adrenogenital syndrome (AGS) is a serious disorder that threatens both your peace of mind, health and life.

Adrenogenital syndrome - what is it?

Adrenogenital syndrome is an inherited disorder of the adrenal cortex. It entails cosmetic, physical and psychological problems.

Pathology has a congenital (hereditary) character, accompanied by a disorder in the processes of hormone synthesis in the adrenal cortex. In this case, the production of an excessive amount of androgen - the male sex hormone. As a result of this process, virilization is observed (the appearance or exacerbation of male features in both men and women).

What are the causes and pathogenesis of adrenogenital syndrome?

Pathology is due hereditary mutations genes that lead to a disorder of the adrenal enzyme system. What parents should expect:

• If only the father or mother of the child has the disease, the said disorder will not be inherited by the infant.
• When two parents have the specified mutation, the probability of its occurrence in a newborn is up to 25 percent.
• If one parent suffers from a hormonal disorder and the other is a carrier gene mutation, the risk of detecting pathology in an unborn child increases to 75 percent.

The pathogenesis (processes that occur during the disease) of adrenogenital syndrome is the excessive production of the androgen hormone due to a deficiency of a certain enzyme. At the same time, the production of other hormones (cortisol, which stimulates protein synthesis, and aldosterone, which is responsible for the metabolism of minerals in the body), is abnormally reduced. The degree of the disease is determined by the intensity of secretion (production) of excess substances.

Hormone androgen

The main forms of adrenogenital syndrome

There are several forms of congenital AGS with different symptoms:

• Virilnaya. Failures in the body occur already at the prenatal stage. Due to excessive secretion of the hormone in adrenogenital syndrome, there are features of false hermaphroditism (masculinization) in newborn girls, in boys - too large a penis. Children with the viril form of AGS often have excessively pigmented skin of the external genital organ, nipples, and anus. At the age of 2 to 4 years, they express the properties of early puberty (acne, low voice, hairiness), often such children are short in stature.
• Salt-wasting. Caused by a lack of aldosterone, expressed in the form of gushing vomiting, not related to food intake, a prolonged decrease in blood pressure, diarrhea in a child, seizures. The salt-losing form of adrenogenital syndrome is characterized by a water-salt imbalance, serious malfunctions of cardio-vascular system. This form is the most common and is very dangerous because it threatens the life of the patient.
• Hypertensive. Rarely occurs, characterized by a prolonged increase in blood pressure. Over time, complications of hypertensive AGS occur (cerebral hemorrhage, disorders of the cardiovascular system, decreased vision, renal failure).

Sometimes the indicated hormonal defect may not be congenital, but acquired (post-pubertal form). In this case, it develops as a result of aldosteroma - a tumor that has arisen in the adrenal cortex.

Hypertensive form of adrenogenital syndrome

Symptoms of adrenogenital syndrome

Above, we have listed the symptoms characteristic of different forms of hereditary AGS. It is necessary to streamline what has been said, as well as replenish the list of indicated signs.

For simple type Viril form of pathology is characterized by common signs:

• in an infant - vomiting, sluggish sucking, metabolic disorders, dehydration, big weight and growth immediately after birth;
• "male" physique (short limbs, broad shoulders, large torso);
• persistently high blood pressure;
• possible infertility.

In female children, adrenogenital syndrome has the following manifestations:

• early puberty (at the age of 6-7 years) in the absence of a breast;
• hair growth (body, face, perineum, abdomen, shins, chest and back);
• lowering the timbre of the voice;
• underdevelopment of the genital organs;
• the onset of menstruation not earlier than 14-16 years, their irregularity (delay);
• a large number of acne, porous and oily skin of the face, back;
• short stature, a figure of a "male" type.

Symptoms of adrenogenital syndrome

In boys, adrenogenital syndrome is accompanied by the following symptoms:

• too much big size penis in childhood;
• excessive pigmentation of the scrotum and other areas of the skin;
• often low stature.

For post-pubertal or non-classical (acquired) AGS forms typical signs:

• hair growth;
• delays in the menstrual cycle;
• often - infertility or spontaneous abortion;
• atrophy of the mammary glands;
• a decrease in the size of the ovaries, uterus, a slight increase in the clitoris (most common in women of reproductive age).

To learn more about the most common signs of AGS, you can view photos illustrating the symptoms of virilization.

How is adrenogenital syndrome diagnosed?

AGS is diagnosed by examining a patient by a number of doctors, including:

• geneticist;
• obstetrician-gynecologist or urologist-andrologist;

You need to be examined by an endocrinologist

• dermatovenereologist;
• endocrinologist;
• pediatric cardiologist;
• ophthalmologist

The doctor collects an anamnesis regarding the disease, analyzes the patient's complaints. He conducts an examination of a potential patient to detect primary physical abnormalities, indicating AGS.

• To determine the level of sodium, potassium, chlorides in the blood.
• Hormonal. You should check the ratio of sex hormones, as well as the work of the thyroid gland.
• Clinical.
• Biochemical.
• General (urine).

A set of studies is also provided, the purpose of which is to refute diseases that have signs similar to AGS. These studies include:

• ultrasound ( ultrasound procedure) genitals;
• Ultrasound of the small pelvis;

pelvic ultrasound

• magnetic resonance imaging of the adrenal glands and brain;
• ECG (electrocardiogram);
• radiography.

How is adrenogenital syndrome treated?

Features of the fight against this defect are as follows:

• Doctors recommend treatment for AGS with hormonal preparations that provide a balanced synthesis of hormones by the adrenal cortex (hydrocortisone tablets for children). Treatment course lasts throughout life.
• Patients stay under life-long supervision at the gynecologist, the endocrinologist.
• Sometimes (in the case of late diagnosis) girls need surgery (correction of the genitals).
• In case of a disease with salt-losing AGS, the amount of salt and other trace elements consumed should be increased. Mandatory diet.
• Short stature, cosmetic flaws may cause a need for psychological help patient.
• In the case of the post-pubertal form of the defect, therapy is needed only if cosmetic or reproductive problems occur.

The degree of cure depends on whether the diagnosis is made in a timely manner. An early diagnosis can prevent genital changes in girls. With the right therapeutic approach to the classic forms of the disease in women, it is possible to ensure the function of childbearing and the normal course of the pregnancy process.

Prevention of adrenogenital syndrome

As preventive measures doctors advise resorting to:

• medical genetic consultations (especially when planning the conception of a child);
• avoiding the influence of negative factors on a pregnant woman.

Results

Adrenogenital Syndrome - serious illness threatening serious consequences for both women and men. Knowing the characteristics of this disease will help you avoid its complications: infertility, excessive cosmetic problems and, in some cases, death.

If you are planning to have children, you should carefully monitor your own health indicators. Be sure to consult with your doctor.

Adrenogenital syndrome (AGS) - hereditary pathology associated with insufficient production of enzymes by the adrenal cortex, accompanied by an excess of sex hormones and a lack of glucocorticoids. The average frequency of occurrence in the population is 1:5500.

Causes of the syndrome

Adrenals - paired organ the person who plays essential role in normal functioning hormonal systems and regulation of metabolism. A number of vital hormones are synthesized in the adrenal glands, of which epinephrine and noradrenaline are the best known. The adrenal glands are closely connected with the hypothalamic-pituitary system, forming a common hypothalamic-pituitary-adrenal system. hormonal regulation. Violation of any of these links inevitably leads to pathology at higher and lower levels.

Anatomically and functionally, the adrenal glands consist of a cortex and a medulla (“substances”). AT medulla the main mass of catecholamine hormones (adrenaline and norepinephrine) is produced. In the cortical substance, morpho-functionally divided into three parts (glomerular, fascicular and reticular zones), glucocorticoids, mineralocorticoids and sex hormones are actively produced. Two hormones are important for our topic. Cortisol is a glucocorticoid hormone produced by the fascicular zone of the adrenal cortex, vital for metabolism (in particular, it regulates energy metabolism in the body by controlling glucose metabolism). Aldosterone is a human mineralocorticoid hormone produced by the zona glomeruli of the adrenal cortex, which is the main mineralocorticoid hormone in the blood, controlling such important metabolic processes as the regulation of blood pressure and control of circulating blood volume. It is with their deficiency that the pathology we are considering is connected.

The cause of adrenogenital syndrome is considered insufficient production of cortisol and aldosterone by the adrenal cortex, due to congenital deficiency of enzymes: 21-hydroxylase, 11-hydroxylase, 18-hydroxylase, 77-hydroxylase, 20-22-desmolase. Insufficient production of the hormone activates the work inside the hypothalamic-pituitary-adrenal system, while ACTH hormone (the pituitary hormone that controls the production of cortisol by the adrenal cortex) begins to actively stimulate the cortical substance, trying to make up for the hormone deficiency. Hyperplasia occurs (tissue increase, due to the growth of cell volume) of the adrenal cortex, which does not lead to an increase in the synthesis of cortisol and aldosterone, because. there are not enough enzymes necessary for this. However, there are all enzymes for the synthesis of sex hormones, and excessive stimulation of the adrenal cortex leads to the stimulation of this synthesis. As a result, the level of cortisol and aldosterone has been and remains low, while the level of sex hormones (androgens) increases dramatically. Schematically, this can be represented as follows:

Symptoms of adrenogenital syndrome:

To date, there are two principal forms of adrenogenital syndrome:

1. The viril form is the most common form of adrenogenital syndrome. Associated with 21-hydroxylase deficiency. This form can be corrected, with timely detection, and on average makes up 2/3 of all patients with this pathology.
2. Salt-losing form - it has a more severe course, is much less common, children without proper treatment die in the first months of life. The main symptoms are mixed with symptoms of dyspepsia, a decrease in blood pressure, etc. Because the symptoms are non-specific, given form often goes undiagnosed.
3. Hypertonic form - a rather rare form, not always distinguished into a separate group. In addition to persistent virilization in this form, persistent arterial hypertension, not stopped by taking "heart" drugs, which, if not properly treated, can lead to kidney failure and disorders of cerebral (cerebral) circulation.

Among the main symptoms are the following:

1. Lagging behind in growth and body weight - patients in early childhood are distinguished by relatively high growth and large body weight, however, on average, by the age of 12, growth stops or slows down, and, as a result, in adulthood, patients are characterized by small growth. In addition, in early childhood there are signs of early androgenization - in boys strong increase in the size of the penis with relatively small testicles, in girls - an increase in the size of the clitoris, female genital organs, early hair growth (hair acquires features similar to the male type with age), coarsening of the voice, partial change in mental behavior.
2. Persistent arterial hypertension - often manifests itself already in early childhood, but the symptom itself cannot be considered pathognomonic. Only a combination of this clinical manifestation with symptoms of early androgenization and laboratory data may suggest an adrenogenital syndrome.
3. Dyspeptic manifestations - a non-specific symptom, may be present in many other pathologies.

Diagnostics:

1. Initial inspection- attention is drawn to the obvious androgenization of the child, hairiness, coarsening of the voice, a pronounced increase in the size of the genital organs.
2. Clinical Tests– discarding many other methods laboratory diagnostics we should mention such a popular method today as determining the level of 17-OPN (17-hydroxy-progesterone), 17-KS in the urine (17-ketosteroids), a high level of ACTH, an increase in the level of DEA (testosterone precursor). Today, the norm is considered to be:
0.6-0.8 ng/ml for 17-OPN
7.8 to 9.0 mg/day for 17-CS
from 7.2 - 63.3 pg / ml for ACTH
DEA 0.9-11.7 and µmol/l
Not all experts believe in specificity this method, however, it is still extremely often used for differential diagnosis.
3. Ultrasound is not the best informative method, you can assess the state of the adrenal glands (extremely difficult on ultrasound).
4. Radiography - evaluate the ossification points, their correspondence with the age norm (as a rule, growth acceleration is observed).
5. It is necessary to carry out differential diagnostics with other pathologies: adrenal insufficiency of another genesis, variants of precocious puberty, androgen-producing tumor of the adrenal glands.
6. MRI and CT - allows you to examine the region of the adrenal glands, determine the existing pathology, exclude the tumor process.

The effect of adrenogenital syndrome on pregnancy:

The onset of pregnancy is quite possible, especially when timely diagnosis and timely treatment. Women with adrenogenital syndrome have certain problems with bearing a pregnancy (even in the later stages, up to placental abruption), however, with properly selected glucocorticoid therapy, bearing a healthy child is possible. Therapy during pregnancy should not be interrupted. One of the main problems in adrenogenital syndrome is the androgenization of the fetus, because. maternal androgens can freely pass through the uteroplacental barrier. As a result of this kind of exposure, girls may have an increase in the clitoris, in more severe cases, sinus urogenitalis and female pseudohermaphroditism may develop. To avoid this, it is necessary to continue and correct the existing therapy under the supervision of an obstetrician-gynecologist-endocrinologist.

Treatment of adrenogenital syndrome:

1. Most often, glucocorticoid drugs are used. Currently, dexamethasone is prescribed at a dose of 0.5-0.25 mg. per day under the control of blood androgens and their metabolites in the urine.
2. In the salt-losing form, it is necessary to add mineralcorticoids to therapy.
3. Sometimes you have to resort to surgical methods treatment - vaginal plastic surgery, clitorectomy.

With timely treatment, the prognosis is usually favorable, however, unfortunately, cases of uncorrected course variants are not uncommon.

All treatment only under the supervision of a highly qualified specialist!

Gynecologist-endocrinologist Kupatadze D.D.

Adrenals - gland 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 cortical layer of the adrenal glands, their release 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 a hereditary increase in the adrenal cortex. This pathology is present in an infant from the first days of life, but clinically manifests itself later, so the child may look completely healthy.

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 (the acquisition of male external features) and even hermaphroditism appear. The reproductive health of women is impaired.

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

The reasons

There are 2 main causes of adrenogenital syndrome:

• hereditary defect of 21-hydroxylase;
• Acquired tumor of the adrenal glands, synthesizing an excess of 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 second is healthy, they will have a healthy child in 50% of cases, and a carrier in 50%. A sick baby cannot appear in such parents.

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

Congenital adrenal hyperplasia can also occur in boys, but affects girls more often. They have genetic defect responsible for the lack 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, there are signs of virilization or hermaphroditism.

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

Symptoms of the disease

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

The main symptoms of adrenogenital syndrome:

• lack of menstruation or irregular rare and scanty bleeding;
• low voice;
• early appearance of pubic and underarm hair during puberty;
• excessive hair growth on the face and body (hirsutism);
• specific appearance: physique according to the "male" type;
• external genitalia may resemble male; 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 in boys it manifests itself from the age of 3 years. At first, the child grows rapidly, but this process is quickly completed, and the growth of the man remains below average. The penis is enlarged, secondary sexual characteristics are expressed. Early puberty is noted, although the testicles often do not function, that is, the man is infertile.

In more rare cases deficiency of other enzymes, patients have high blood pressure, hermaphroditism in boys according to the female type, underdeveloped genitals.

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

Forms

There are 3 forms of adrenogenital syndrome.

The classic viril form is accompanied by an excess of androgens with a deficiency of aldosterone and cortisol. Children have rapid but short-lived growth. Their external genitalia are formed according to the male type. In severe cases, girls are diagnosed with hermaphroditism - outwardly the sex is male, and 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 life threatening. At similar symptoms the newborn 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 is manifested by the growth of facial hair, acne, menstrual disorders, infertility.

Diagnosis of the disease

The doctor-endocrinologist is engaged in the diagnosis and treatment of this disease. Depending on the form of the disease, the diagnosis of adrenogenital syndrome can be carried out both in infants and in more late age. The disease is attributed to one or another type according to the appropriate classification, using the following studies:

• the appearance of the patient, the shape of the external genital organs (hypertrophy of the clitoris, penis enlargement);
• clinic - complaints of infertility, menstrual irregularities, facial hair growth;
• hormonal and genetic testing.

• increase in 17-hydroxyprogesterone;
• increase in serum dehydroepiandrosterone sulfate;
• increased 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.

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

Pathology is registered in photos taken 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 hormone therapy. 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 is prescribed - karyotyping. It helps to clarify 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 levels of aldosterone and cortisol. For this, daily injections of these drugs are prescribed. Injection continues up to 18 months.

After that, the pathology in children is treated using hormonal drugs in the form of tablets. Properly selected treatment allows you to achieve normal growth and development of the child, despite hyperplasia of the adrenal cortex.

Conducted if necessary plastic surgery on the genitals. They are adjusted according to the genetic sex of the child.

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

Therapy aimed at reducing virilization, normalizing hormonal background, stimulation of sexual development and the possibility of bearing a child are 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