Adrenogenital syndrome gynecology. Adrenogenital syndrome - how to identify it and alleviate the course of the disease. Treatment of congenital adrenogenital syndrome

Definition of the concepts of hypertrichosis, hirsutism, virilism.

Adrenogenital syndrome (AGS) is a 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 reason for the insufficient secretion of normal hormones of the adrenal cortex in patients with adrenogenital syndrome is a congenital deficiency in the activity of key enzymes in the synthesis of cortisol, 21-hydroxylase or 11-beta-hydroxylase. Adrenogenital syndrome is a monogenic disease inherited in an autosomal recessive manner. With it, the adrenal glands do not have the ability to synthesize normal cortisol adequate to the needs of the body. A drop in the concentration of the hormone in the extracellular fluid and blood plasma serves as a stimulus for the growth of secretion of corticotropin by the adenohypophysis.

An increase in the secretion of corticotropin causes hyperplasia of the adrenal glands. At the same time, the adrenal glands intensively form and release abnormal steroids that have the biological activity of androgens. As a result, women with adrenogenital syndrome develop virilism. Virilism (lat. virilis, male) - the presence in women of secondary male sexual characteristics, that is, hirsutism (male type of hair growth), the structure of the skeleton and voluntary muscles characteristic of men, a massive clitoris, and also a low timbre of voice. An increase in the content of steroids with the properties of androgens in the circulating blood leads to a decrease in the secretion of gonadotropins by the adenohypophysis. As a result, sick girls do not develop a normal menstrual cycle.

Congenital deficiency of 21-hydroxylase activity as a cause of adrenogenital syndrome can lead to low synthesis of aldosterone by the adrenal cortex. Aldosterone deficiency causes the body to lose sodium. A decrease in the sodium content in the body leads to a drop in the volume of extracellular fluid.

Classification of adrenogenital syndrome

congenital adrenogenital syndrome

Uncomplicated (simple) virilizing form.

Virilism with hypertensive syndrome

Virilism with hypotensive syndrome

Acquired adrenogenital syndrome)

Symptoms 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.

3. Hypertonic form - a rather rare form, not always distinguished into a separate group. With this form, persistent arterial hypertension begins to appear early, which is not stopped by taking "heart" drugs, which, if not properly treated, can lead to kidney failure and cerebral (cerebral) circulation disorders.

Among the main symptoms are the following:

1. Lagging in growth and body weight - patients in early childhood are characterized by relatively high growth and large body weight, but on average, by the age of 12, growth stops or slows down, and, as a result, in adulthood, patients are characterized by small growth.

2. Persistent arterial hypertension - often manifests itself already in early childhood, but the symptom itself cannot be considered pathognomonic.

3. Dyspeptic manifestations - a non-specific symptom.

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. The hereditary factor is 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 of steroid hormones in the adrenal cortex in children with congenital adrenogenital syndrome, which have been carried out since 1950, have made it possible to put forward a general concept of the 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 variants of adrenogenital syndrome are determined by blocks of enzyme systems at certain 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 an enzymatic disorder has a female-type 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.

The most common type of perinatal adrenogenital syndrome is a condition caused by an oxidative blockade. 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 cases, this block is partial, and then enough aldosterone is formed to minimize sodium loss, and cortisol formed in small amounts prevents serious symptoms of adrenal insufficiency. At the same time, freely synthesized androgens, constantly stimulated by an excess of ACTH, cause the 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 (the highest limit of normal). 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 11-deoxycorticosterone (a precursor of aldosterone) is formed in excess, which itself has a pronounced mineralocorticoid activity, the electrolyte balance of the body is not disturbed and hypertension develops. Therefore, at this option congenital hyperplasia of the adrenal cortex, the phenomena of masculinization are combined with a hypertensive syndrome. It has been proven that in the hypertensive form of adrenogenital syndrome, the adrenal cortex also secretes a large amount of the "S-Reichstein" or 11-deoxycortisol compound, which is excreted into the urine as the "tetrohydro-S" substance. 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 has not yet been finally clarified.

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 adrenal hyperplasia can develop in children of both sexes, but it is slightly more common in girls. 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, the growth of the penis and body hair develop in the 2-3rd year of life, which makes it difficult to diagnose the disease early.

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, physical development accelerates, muscle strength increases and male architectonics is strongly emphasized, then it is not surprising that a child is often mistaken for a boy with bilateral cryptorchidism. Such a transformation female body in men 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 the 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 the III degree of changes in the external genital organs.

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.

In 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 from an acute development of a 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 quickly levels the patient's condition.

In such cases, pediatricians often suggest pyloric stenosis or acute toxic dyspepsia. Parenteral administration of a saline solution to these children 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 at the last stage of cortisol synthesis with excessive release of deoxycorticosterone into the blood, which can increase blood pressure. These patients, in addition to hypertension, have all the symptoms of the 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 adrenal dysfunction, carbohydrate metabolism disorders 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, a differential diagnosis should always be made 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 regard, suprarenorenoroentgenography data with the introduction of oxygen through the perirenal tissue can be of great help. In this way, you can examine the adrenal glands from two sides at once.

Of the laboratory research methods, the most widely used is the determination of the content of neutral 17-ketosteroids in daily urine. 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 amounts already in the early stages of the disease, and their presence indicates blockade of 21-hydroxylation. It has been established that pregnandiol, pregnantriol and pregnantriolon can accumulate in the urine and in case of virilizing adrenal adenomas, which should be taken into account when differential diagnosis viril 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. At present, the cortisone test is of great importance. If a patient with adrenogenital syndrome is administered 50-100 mg of cortisone per day for 5 days (or in 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. In the urine, an increased content of gonadotropins is found. The testicles in boys increase to the size of adults, while in adrenogenital syndrome they are underdeveloped. In doubtful cases, testicular biopsy is of great importance. In adrenogenital syndrome, immature tubules and the absence of Leydig cells are found, and in 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, precocious puberty can only rarely 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 is now firmly established that the most rational therapy for congenital dysfunction (hyperplasia) of the adrenal cortex is the appointment of corticosteroid drugs (cortisone and its derivatives) to the patient. This is in the full sense a replacement therapy, since the basis of the 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 begins with relatively large doses of cortisone or its derivatives (so-called shock therapy), which can suppress 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 young children 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. Preferably intramuscularly administer cortisone acetate 10-25 mg per day to infants, 25-50 mg to children 1-8 years old and 50-100 mg per day to 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 desired dosage of the corticosteroid is set according to 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 of table salt, cortisone and deoxycorticosterone (DOC) is required, and doses are prescribed in accordance with 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. A good effect is achieved from the use of cortisone or prednisolone. It should be pointed out that if patients fall ill or undergo surgery, it is recommended to increase the dose of hormones, which is especially important in 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., 6 years old, was admitted to the children's department of the Institute of Experimental Endocrinology and Chemistry of Hormones of the Academy of Medical Sciences on December 26, 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 the age of 3, rapid growth was noted.

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. changes internal organs not detected. 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, the 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 prednisolone 5 mg 2 times a day under the control of her general condition, weight, blood pressure, and the content of 17-ketosteroids in the 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. Over the past year has grown 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. Left testicle sized Walnut, right - with 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 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 easier for the patients themselves. Remember the winged lines, the meaning of which most people think little about: “the queen gave birth in the night to either a son or a daughter”? Are you sure that this is only the author's metaphor? Nothing like this! Such "symptoms" do sometimes occur, both in boys and girls, but it does not mean at all that the child is a hermaphrodite. Pathology is known in world medical practice under different names: congenital hyperplasia (dysfunction) of the adrenal cortex or Apert-Gamet syndrome, but domestic experts prefer the more traditional definition of "adrenogenital syndrome in children", although it is not entirely correct. What is it: a sad joke of nature, a common genetic pathology, or the rarest medical phenomenon, which is almost unbelievable to meet 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 in the entire “mechanism”. So, if for one reason or another the work of the adrenal glands (more precisely, their cortex) is disturbed, the consequences can be the most sad, because these endocrine glands are responsible for the production of many hormones that regulate the work of all organs and systems of the body. Adrenogenital syndrome is characterized by increased secretion of androgens and a significant decrease in the level of aldosterone and cortisol. In other words, in the body of a newborn (applies equally to both boys and girls), there are too many male hormones and negligible female hormones.

What this can lead to is easy to guess. We will talk about the 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 is definitely not to blame. However, the inertia of thinking and the bad habit of hanging tags on everything is a terrible force, because newborns of the “middle sex” (one term is worth it!) Will not have the most pleasant fate. But with the right approach (not least for 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 a child will turn into an outcast.

Classification

In solid scientific works, adrenogenital syndrome (AGS) is conventionally divided into three types: salt-losing, simple viril and neoclassical (post-pubertal). They differ quite strongly, because another vicious practice of domestic health care - diagnosis solely on the basis of several clinical manifestations - is completely unacceptable.

The reasons

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 the age of 30-35. In the latter case, factors that are not obvious at first glance can "start" the mechanism: increased background radiation, treatment with potent drugs, or a side effect from the use of hormonal contraceptives.

Adrenogenital syndrome is transmitted in an autosomal recessive manner, on the basis of 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 of the defective gene: the probability of having a sick child is 25%;
• one of the parents is sick, and the other is the carrier of the mutation: in 3 cases out of 4 (75% of cases), the child will be sick.

Symptoms

To some, they may seem funny or indecent, but, fortunately, there are almost no such “uniques” now. AGS cannot be called a deadly pathology, but some symptoms can bring a lot of unpleasant minutes to a person or even lead to nervous breakdown. If AGS is detected in a newborn, parents have time to help the child with social adaptation. But if a student is diagnosed, the situation often gets out of control, which in some cases can lead to the most unpredictable consequences. The clinical manifestations themselves are as follows:

In addition, “boys” are characterized by a disproportionately large penis, and patients with a non-classical form of AGS often complain of problems with conception and gestation, which is why they have practically no chance of becoming mothers (in the absence of adequate treatment).

Diagnostics

As we have said, recognizing AGS is quite difficult. The classical approach to diagnosis, which involves the collection of a detailed history, analysis of past diseases and a detailed conversation with the patient, is 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 learn about their diagnosis already in adulthood.

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

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

An in-depth genetic study may be required to confirm the diagnosis, 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, fortunately, it is not necessary to talk about the likelihood of developing irreversible changes in the body that can lead to death. But if you ask if there are effective methods for treating adrenogenital syndrome today, the answer will be no. Patients with AGS are forced to “sit” all their lives on hormone replacement therapy, which makes it possible to compensate for the deficiency of glucocorticosteroid hormones.

The long-term prospects for such treatment are not fully understood, but there is evidence indicating a high likelihood of developing cardiovascular pathologies, diseases of the gastrointestinal tract, and malignant neoplasms. But in this case The benefits of treatment far outweigh the potential risks.

Currently, studies are underway on the treatment of AGS by transplantation (transplantation) of the adrenal glands, but they have not yet left the experimental phase. When the technology is developed, we can assume the extremely high cost of the operation and a considerable risk of side effects.

Prevention

There are no effective methods that would make it possible to “insure” against ASH. This is explained by the fact that its occurrence is not influenced by internal or external risk factors, but by a genetic predisposition. Therefore, the only possible way of prevention is planning a future pregnancy with mandatory genetic analysis of both spouses. The cost of such a study is quite high, therefore it is impossible to recommend it to every couple without taking into account financial possibilities.

A factor that can provoke the activation of a defective gene must also be recognized as exposure to ionizing radiation and poisoning with potent toxic substances. At the same time, it is not necessary to talk about prevention itself, but it is still better to refrain from visiting nuclear test sites and walking around the area with a depressing environmental situation for the period of conception and gestation.

Instead of a conclusion

We usually try to refrain from any advice that implies blind adherence to this or that dogma. And the point here is by no means an 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 all necessary information rather than generalized recipes for all occasions. But AGS is a special case.

We will not once again remind you 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-tight guardianship can do him a disservice, and an excuse like "he's unusual, he can be offended" is just an attempt to protect him from the outside world that is doomed to failure. To help and support is one thing, but to live life for him, turning a living person into a mannequin, is quite another.

Many forms of this pathology are accompanied by increased secretion of male sex hormones (androgens) by the adrenal glands, as a result of which, in women, adrenogenital syndrome is usually accompanied by the development of virilization, that is, male secondary sexual characteristics (hair growth and male pattern baldness, low voice, muscle development). In this regard, earlier this pathology was called "congenital adrenogenital syndrome".

Definition and relevance of pathology

Adrenogenital syndrome, or congenital adrenal dysfunction (CHD), or congenital adrenal hyperplasia (CAH) is a group of hereditary diseases manifested by primary chronic adrenal insufficiency and pathological conditions in the form of disorders of sexual differentiation and sexual development or premature sexual development.

A significant place in this problem is occupied by non-classical variants of the pathology, which subsequently manifest themselves in such reproductive disorders as infertility. The overall incidence of classical forms of the disease is quite high. People of Caucasian race are more often affected.

In typical cases, among different population groups, VDKN in newborns is detected with a frequency of 1:10,000-1:18,000 (in Moscow - 1:10,000). Moreover, if in a monozygous (both alleles in the genotype are the same) state it occurs with an average frequency of 1:5,000-1:10,000, then heterozygous adrenogenital syndrome - with a frequency of 1:50.

In the absence of timely diagnosis and inadequate replacement therapy, severe complications are possible. In these cases, as a rule, the prognosis of the disease is unfavorable. It poses a threat to the health and life of all patients, but adrenogenital syndrome is especially dangerous in children in the neonatal period. In this regard, doctors of various specializations have to deal with the problem of VDKN and the provision of consultative and medical assistance - in gynecology and obstetrics, pediatrics, endocrinology and therapy, pediatric and adult surgery, and genetics.

Adrenogenital syndrome in girls is much more common than in boys. In the latter, it is accompanied by only minor clinical symptoms of the type of excessively early (premature) development of phenotypic secondary sexual characteristics.

Causes and pathogenesis of the disease

The meaning of the principle of etiology and pathogenesis lies in the definition of this pathology. The cause of its occurrence is a defect (inherited) of one of the genes that encode the corresponding enzymes involved in the synthesis of steroids by the adrenal cortex (in steroidogenesis), in particular, cortisol, or transport proteins of the adrenal cortex. The gene that regulates the normal synthesis of cortisol is localized in one pair of the sixth autosome, so the type of inheritance of adrenogenital syndrome is autosomal recessive.

This means that there are carriers of the disease, that is, a group of people in whom the pathological condition is hidden. A child whose father and mother (each) has such a latent pathology may be born with obvious signs of the disease.

The main link in the mechanism of development of all disorders is the impaired biosynthesis of cortisol and its insufficient production due to a defect in the enzyme 21-hydroxylase. Cortisol deficiency, in accordance with the principle of neurohormonal feedback, is a factor that stimulates the anterior pituitary gland to secrete additional amounts of adrenocorticotropic hormone. And the excess of the latter, in turn, stimulates the function of the adrenal cortex (steroidogenesis), which leads to its hyperplasia.

Adrenal hyperplasia causes active secretion not only of progesterone and 17-hydroxyprogesterone, that is, steroid hormones that precede enzymatic blockade, but also of androgens, which are synthesized independently of the 21-hydroxylase enzyme.

Thus, the results of all these processes are as follows:

1. Deficiency of the glucocorticosteroid cortisol.
2. High compensatory content in the body of adrenocorticotropic hormone.
3. Deficiency of the mineralocorticoid hormone aldosterone.
4. Excess secretion of progesterone, 17-hydroxyprogesterone and androgens by the adrenal glands.

Forms of adrenogenital syndrome

According to the type of enzyme whose gene contains a defect, 7 nosological variants of the syndrome are currently distinguished, one of which is lipoid (fatty) adrenal hyperplasia due to a lack of the StAR /20,22-desmolase protein, and the remaining six arise due to a defect in the following enzymes :

• 21-hydroxylase;
• 3-beta-hydroxysteroid dehydrogenase;
• 17alphahydroxylase/17,20-lyase;
• 11-beta-hydroxylase;
• P450-oxidoreductase;
• synthetase of aldosterone.

On average, 95% of the disease with adrenogenital syndrome is due to a deficiency of the enzyme 21-hydroxylase, the rest of its forms are very rare.

Depending on the nature of the defects in the enzymes listed above and clinical manifestations, the following variants of the disease are presented in the classification.

Simple viril form

Subdivided into congenital classical, in which the activity of 21-hydroxylase is less than 5%, and non-classical, or late puberty (the activity of the same enzyme is less than 20-30%).

Salt-wasting form (classic)

It develops with:

• 21-hydroxylase activity less than 1%;
• deficiency of the enzyme 3-beta-hydroxysteroid dehydrogenase, occurring in individuals with a male genotype with symptoms of male false hermaphroditism, and in individuals with a female genotype - with no sign of virilization;
• deficiency of the protein StAR /20,22-desmolase, manifested in people with a female phenotype, a very severe form of hyperpigmentation;
• lack of the enzyme aldosterone synthetase.

Hypertensive form

In which they distinguish:

1. Classical, or congenital, resulting from a deficiency of the enzyme 11-beta-hydroxylase and developing with virilization in people with a female phenotype; deficiency of the enzyme 17-alphahydroxylase / 17,20-lyase - with growth retardation, spontaneity of puberty, with a female genotype - without virilization symptoms, with a male - with false male hermaphroditism.
2. Non-classical, or late - deficiency of the enzyme 11-beta-hydroxylase (in persons with a female phenotype - with symptoms of virilization), lack of the enzyme 17-alpha-hydroxylase / 17,20-lyase - with growth retardation and spontaneity of puberty, without virilization in persons with female genotype, with false male hermaphroditism - in the presence of a male genotype.

Symptoms of pathology

Clinical symptoms and disorders in the body of metabolic processes are characterized by a great variety. They depend on the type of enzyme, the degree of its deficiency, the severity of the genetic defect, the karyotype (male or female) of the patient, the type of hormonal synthesis block, etc.

• Excess adrenocorticotropic hormone

As a result of the high content of adrenocorticotropic hormone in the body, which, being a competitor of melanocyte-stimulating hormone, binds to the receptors of the latter and stimulates the production of skin melanin, which is manifested by hyperpigmentation in the genital area and skin folds.

• Deficiency of the glucocorticosteroid cortisol

Leads to hypoglycemic (low blood glucose) syndrome, which can develop at any age if substitution therapy is inadequate. Hypoglycemia is especially difficult for a newborn baby. Its development can easily be provoked by improper or irregular (untimely) feeding or other associated diseases.

• With aldosterone deficiency

The steroid hormone aldosterone is the main mineralocorticoid that affects salt metabolism in the body. It increases the excretion of potassium ions in the urine and promotes the retention of sodium and chloride ions in the tissues, resulting in an increase in the ability of the latter to retain water. With a deficiency of aldosterone, a violation of water and electrolyte metabolism develops in the form of a “salt loss syndrome”. It is manifested by regurgitation, repeated massive (in the form of a "fountain") vomiting, an increase in the daily volume of urine, dehydration of the body and severe thirst, a decrease in blood pressure, an increase in the number of heartbeats and arrhythmias.

• Excess secretion of androgens

During the period of embryonic development of a fetus with a female karyotype (46XX) is the cause of virilization of the external genitalia. The severity of this virilization can be from the 2nd to the 5th degree (according to the Prader scale).

• Excessive synthesis of androgens by the adrenal glands

An excess of dehydroepiandrosterone, androstenedione, testosterone after birth causes premature isosexual puberty in boys, manifested by penis enlargement and erections. Premature sexual development of girls with adrenogenital syndrome occurs according to the heterosexual type and is manifested by an increase and tension of the clitoris.

In male and female children, by the age of 1.5 - 2 years, acne, pubic hair growth and coarsening of the voice are noted. In addition, there is an acceleration of linear growth, but, at the same time, bone tissue differentiation is faster than its linear growth, as a result of which, by the age of 9–11 years, bone epiphyseal growth zones are closed. Ultimately, as a result of this, children remain undersized.

• Salt-wasting (classical) form

The most severe form of adrenogenital syndrome, which in children, both male and female, manifests itself already in the first days and weeks after birth with a slow increase in body weight, “gushing” repeated vomiting, lack of appetite, abdominal pain, regurgitation, low content of blood sodium ions and elevated - potassium ions. Losses of sodium chloride (salt), in turn, lead to dehydration and aggravate the frequency and massiveness of vomiting. The body weight decreases, lethargy and difficulty in sucking appear. As a result of the absence or untimely and inadequate implementation intensive care the development of a collaptoid state, cardiogenic shock with a fatal outcome is possible.

• With virile and salt-losing forms

Intrauterine hyperandrogenism is capable of stimulating the virilization of the external genitalia to such an extent that by birth girls have various degrees of fusion of the scrotal suture and an enlarged clitoris. Sometimes the girl's external genitalia even bear a complete resemblance to men's, as a result of which the staff at the maternity hospital registers her, and her parents raise her as a boy. In boys, the external genital organs are corresponding, sometimes the size of the penis may be somewhat larger.

After birth, both in girls and boys, there is an increase in the clinical manifestations of androgen excess - an increase in the rate of maturation of bone tissue and physical development, as well as an increase in the size of the clitoris and its tension in girls, an increase in the size of the penis and the appearance of erections in boys.

• Manifestation of a non-classical form of the disease

It is noted at 4-5 years of age only in the form of premature hair growth in the axillary and pubic areas. There is no other clinical symptomatology of this form.

• With hypertensive form

Characteristic of the hypertensive form is high blood pressure, which occurs secondarily as a result of a compensatory increase in the concentration of deoxycorticosterone, which is a minor mineralocorticoidsteroid hormone of the adrenal cortex. Under its influence, there is a delay in the body of sodium salts and, accordingly, water, which leads to an increase in the volume of circulating blood. Sometimes a simultaneous decrease in potassium salts is possible, accompanied by muscle weakness, heart rhythm disturbances, increased thirst against the background of an increase in daily diuresis, and a violation of the acid-base state of the blood.

Diagnostics

Currently, there are diagnostic possibilities when planning pregnancy (with preserved fertility), in the prenatal and neonatal periods. The first two types of diagnostics are carried out in cases where anamnestic or clinical and laboratory data are available, suggesting the possibility of the presence of a corresponding hereditary pathology in parents or the fetus.

In order to identify the degree of risk to the unborn fetus at the stage of pregnancy planning, men and women are tested with adrenocorticotropic hormone. They allow you to confirm or reject the presence of heterozygous carriage or a non-classical form of congenital adrenal dysfunction.

1. Genetic analysis for adrenogenital syndrome, which consists in the study in the first trimester of pregnancy of the DNA of cells of the chorionic villi, in the second trimester - in the molecular genetic analysis of the DNA of cells contained in the amniotic fluid, which makes it possible to diagnose deficiency of the enzyme 21-hydroxylase.
2. Determination in the first trimester of the concentrations of 17-hydroxyprogesterone and androstenedione in the blood of a pregnant woman, as well as in the amniotic fluid obtained for the study of chorionic villi, and in the second trimester - in the blood of a pregnant woman and in the waters obtained using. These tests make it possible to detect a deficiency of the enzyme 21-hydroxylase. In addition, the analysis of amniotic fluid allows you to determine the concentration of 11-deoxycortisol in order to detect deficiency of the enzyme 11-beta-hydroxylase.
3. Determination of the sex karyotype and typing of tissue compatibility genes (HLA) by studying DNA obtained from chorionic villi, which are taken at the 5th - 6th week of pregnancy using the needle biopsy technique.

Neonatal screening (during the neonatal period) has been carried out in Russia since 2006. In accordance with it, the study of the content of 17-hydroxyprogesterone in the blood is carried out in all children on the 5th day after birth. Neonatal screening makes it possible to timely and optimally address the issues of diagnosis and treatment of the disease.

Adrenogenital syndrome, also known in medicine as Apert-Gamet syndrome, is a rather rare disease.

The frequency of occurrence among Europeans is 1:5500. The disease is caused by malfunction of the adrenal glands.

An abundance of male hormones - both in men and women - is a characteristic feature of the syndrome. Serious hormonal disruptions in the body have unexpected manifestations: from a suddenly grown beard in a beautiful lady to death.

The severity of the disease directly depends on the level of lack of 11-hydroxylase or 21-hydroxylase enzymes necessary for the synthesis of adrenal hormones. Adrenogenital syndrome has several main clinical forms of the disease:

• Simple viril form caused by a deficiency of the enzyme 21-hydroxylase. With this type, the body does not produce enough cortisol from its precursors. The accumulated basic substances for the formation of cortisol are transformed into adrenal androgen. Reduced levels of cortisol in the blood stimulate the production of replacement substances. In the hypothalamus, the synthesis of corticoliberin starts, which, in turn, leads to hyperplasia of the adrenal cortex. The form is characterized by rapid virilization, as well as accelerated somatic development.
• Salt-wasting form. A deeper form of 21-hydroxylase enzyme deficiency. It is characterized by a violation of the synthesis of not only glucocorticoid (cortisol), but also mineralocorticoids (hormones that affect water-salt metabolism). This type of pathology is considered the most severe, because with it there is a persistent violation of the function of absorption of sodium ions by the kidneys. This provokes a further violation of salt metabolism and can lead to death.
• Non-classical hypertensive form caused by a deficiency of the enzyme 11-hydroxylase. The disease is characterized by excessive production of androgens by the adrenal glands. In this case, there is a persistent decrease in blood pressure. Among the serious consequences of the form are disruption of the circulatory system, heart attacks.

The reasons

The appearance of the syndrome is caused by one of the reasons:

• inherited gene disorder;
• a pathological change in the adrenal cortex (most often caused by the formation of a tumor of a benign or malignant nature).

The root of the disease lies in the change in the gene structure, namely in the deficiency of the enzymes 21-hydroxylase or 11-hydroxylase (for the hypertensive form).

The disease is directly related to insufficient production of enzymes in the adrenal cortex. In fact, there are no basic building materials.

The lack of a biologically active substance provokes changes in the biosynthesis of corticosteroids. As a result - the release of a large number of steroids and androgens.

It is customary to attribute adrenogenital syndrome to congenital ailments (without taking into account the appearance of neoplasms in the adrenal cortex). Sometimes genetic anomalies occur spontaneously, at the level of gametes.

There are some patterns in the manifestation of the syndrome.

• The disease is inherited recessively. Outwardly healthy parents, carriers of mutant genes, may have a child with adrenogenital syndrome.
• If one of the parents is healthy and the other is a carrier, then the pathology will not affect the child. However, he will remain a carrier of the gene.
• If one of the parents is a carrier of the syndrome, and the other has a pronounced pathology, then the children will be healthy with a fifty percent probability. If the pathology manifested itself in both parents, then the disease will certainly affect children.

The syndrome can be passed down through several generations. If a similar pathology has been detected in blood relatives, then future parents are recommended to seek advice from a geneticist.

Symptoms

The symptomatology of the disease varies depending on the form of the syndrome, the degree of damage, age, and gender.

The disease can manifest itself at different ages. Severe congenital forms are usually diagnosed from the first days of life.

However, the latent form of the course of the disease is often established when secondary sexual characteristics appear in children, sometimes as early as adolescence.

The sudden onset of symptoms of AGS in adults is a reason for immediate medical attention. Often this is associated with the formation of tumors of the adrenal glands.

The symptoms are most pronounced in girls:

• developed muscles according to the male type;
• acne;
• early appearance of hair in the groin and axillary region;
• increased hair growth on the body and face;
• low voice;
• violation of menstruation, up to the complete absence;
• underdeveloped mammary glands.

The symptoms of adrenogenital syndrome in an adult woman include male-type hair growth (in mild forms it may be the only manifestation of the disease), skin rashes, baldness, changes in the menstrual cycle, coarsening of the voice.

Some women, due to nationality or other individual characteristics, have an increased sensitivity to testosterone. In this case, hirsutism (male type of hair growth) is the norm.

The manifestation of AGS in men can be supported by excessive hair growth, suppression of the functions of the sex glands, and infertility.

With a simple viril form, a modification of the genital organs is observed. For males, transformations are not always obvious.

The external genital organs in boys are usually formed, but at the same time they are enlarged and pigmented.

In girls, changes can manifest themselves to varying degrees. Light forms are characterized by an increase in the clitoris. AT difficult cases the external genitalia are formed like the male type. The clitoris is penis-shaped with a urethra, the entrance to the vagina is narrow, the labia majora are fused, pigmented, the small ones are underdeveloped.

Diagnosis of adrenogenital syndrome

The establishment of the diagnosis, as well as the treatment of AGS, is carried out by a doctor endocrinologist or gynecologist-endocrinologist. For a medical opinion, a blood test for the content of the precursor of cortisol is necessary. Normally, 17-hydroxyprogesterone (17-OHPg) should not exceed 5 nmol/l.

The content of 17-OHPg in the blood more than 15 nmol/l indicates a deficiency of 21-hydroxylase and is the basis for the diagnosis of adrenogenital syndrome.

Clinical studies show that this marker usually exceeds 45 nmol/L in patients with the classic form of the disease.

There are other indicators characteristic of this pathology. These are an increase in serum dehydroepiandrosterone sulfate, 17-ketosteroids in the urine, and a low level of 17-hydroxycorticosteroids in the urine.

Sometimes a specialist prescribes a genetic blood test. For addition clinical picture diseases, a bone x-ray can be prescribed (the blockade of the growth zone is visible in the picture). To exclude polycystic ovaries, which has symptoms adjacent to AGS, an ultrasound examination of the genital organs is performed.

It is important to distinguish adrenogenital syndrome from cancerous tumors of the adrenal glands. To do this, it is necessary to pass an analysis for oncological blood markers, as well as an ultrasound of the kidneys.

If a pediatrician or neonatologist doubts the sex of the child, a chromosomal study is prescribed - karyotyping.

Treatment of adrenogenital syndrome

Hormone therapy is used to treat the disease. In severe cases, surgical intervention, plastic surgery of the external genital organs is necessary.

Hormonal drugs are used to suppress or replace the action of androgens.

In classical forms, prednisolone (15-20 mg / m 2), hydrocortisone (5 mg / m 2) are prescribed. At the same time, a third of the drug is taken in the morning, and the main part is taken at night to suppress the production of ACTH by the pituitary gland.

With a salt-losing form of adrenogenital syndrome, treatment is supplemented with fludrocortisone (50-200 mcg / day).

If adrenogenital syndrome was detected on early stage and adequately treated, it is possible to eliminate symptoms, as well as the onset and gestation of pregnancy.

Do not self-treat AGS. Only a specialist can prescribe the correct doses of the drug and control the course of treatment.

Adrenogenital syndrome in newborns

The disease in children can be diagnosed from the first days of life.

Conducting neonatal screening on the fourth day of a baby's life allows you to determine the presence of pathology.

Sometimes even at birth, doctors may suspect the presence of a syndrome, because salient feature diseases - modified genitals in girls (formed according to the heterosexual type).

It happens that the syndrome is so pronounced in girls that it is difficult to establish the sex of the child.

Late diagnosis and lack of treatment can lead to negative consequences:

• incorrect installation of gender;
• lethal outcome (with a salt-losing form);
• infertility;
• violation of the processes of growth and puberty.

In addition to obvious androgenization, severe forms of the disease are accompanied by causeless vomiting, diarrhea, and a decrease in blood pressure. This condition is extremely dangerous for the newborn and requires immediate treatment.

Adrenogenital syndrome in children

The disease develops differently in boys and girls. In females, the disease can usually be recognized much more easily. The disease can manifest itself at any stage of life, but is most often diagnosed in children.

Boys are characterized by early puberty.

An excess of steroid hormones leads to premature puberty, penis enlargement, the appearance of hair in the inguinal and axillary areas, on the face.

In boys, adrenogenital syndrome is usually diagnosed at the age of 2-3 years.

Often the pathology is accompanied by an erection in preschool age. At the same time, the intensively growing testicles abruptly stop their growth and remain underdeveloped.

Usually children with adrenogenital syndrome remain low. A rapid growth rate up to 12 years and its almost complete cessation in adolescence occurs due to the closure of growth zones.

Girls affected by the disease often have a male body type, a low timbre of voice, body hair and a number of other signs characteristic of a man.

In addition to physiological problems, little ladies also have difficulties adapting to society. Often, due to an atypical appearance, it is necessary to consult not only an endocrinologist, but also a psychologist.

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