Famous people with adrenogenital syndrome. What triggers adrenogenital syndrome and how to treat congenital adrenal hyperplasia

Date of: 19.04.2019

Subdivided into the innate form, which is considered classical , and non-classical light forms, which include post-pubertal and puberty . They are classified according to hyperandrogenism and the level of C21 hydroxylase deficiency. With this disease, an excessive amount is produced in the adrenal glands androgen, while the hormone gonadotropin is secreted in insufficient quantities. As a result, in the ovaries there is a significant violation of the subsequent growth of follicles, as well as their maturation.

The main cause of adrenogenital syndrome is congenital deficiency of an element such as C21-hydroxylase, a special enzyme involved in the synthesis of androgens produced in the adrenal cortex. This enzyme is formed in sufficient quantity under the influence of the gene, which is located in the short arm of the autosome - pairs of the 6th chromosome . As a rule, the inheritance of this disease is distinguished by an autosomal recessive nature. If there is only one pathologically altered gene in the body, the disease may not develop, and only when the pathological genes are in different pairs of chromosomes can adrenogenital syndrome develop.

Symptoms of adrenogenital syndrome

With the congenital form of adrenogenital syndrome, during the period of intrauterine development, the formation of hormonal function of the adrenal glands produces an excessive amount of androgens. An excess of androgens leads to sexual differentiationrelated to the female fetus. By 9-11 weeks of fetal development, the fetus already has a sexual structure and organs characteristic of the female body, although the external genitalia at this stage are only just beginning to form. In this case, the female phenotype is formed from the initial type.

Excessive production influences the female fetus and its external genital organs, as a result, there is a significant increase in the genital tubercle, which then takes the form of a penis-shaped clitoris, the labiosacral folds merge and resemble the scrotum in shape. The urogenital sinus opens under the deformed clitoris, not initially distributed to the vagina and urethra. Therefore, at the birth of a child, it is often incorrect to determine his gender. Since the gonad ovaries acquire a female form, congenital adrenogenital syndrome is often called false female hermaphroditism, during intrauterine development, androgen overproduction leads to adrenal hyperplasia.

Children suffering from this disease need constant monitoring by children's endocrinologists. Modern medical techniques provide for timely surgical treatment of adrenogenital syndrome in order to operatively correct the sex and subsequently the child will develop according to the female type. Now, gynecologists-endocrinologists often turn to patients in whom the adrenogenital syndrome is characterized by a late form.

With a congenital puberty form, a deficiency of C21-hydroxylase appears during prenatal development during the puberty period, when hormonal function of the adrenal cortex is only manifested. However, violations are especially noticeable immediately before the onset of the first menstruation in the girl. And if usually in a population the first menstruation occurs at 12-13 years, then in girls with congenital adrenogenital syndrome, characterized by a puberty form, the first menstruation occurs much later, only at 15-16 years.

The menstrual cycle in this disease is quite unstable, menstruation is irregular, in girls there is a tendency to oligomenorrhea. The interval between menstruation is significant, as a rule, it is 30-45 days.

It is quite pronounced, quite often it manifests itself in the growth of rod hair located along the white line of the abdomen, in the growth of hair above the upper lip according to the male principle, on the hips and around the nipples. A large number of sebaceous glands appears on the body, suppuration of the hair follicles is often observed, the skin on the face becomes oily, the pores enlarge and expand. Girls suffering from the pubertal form of adrenogenital syndrome are distinguished by a rather high growth and male physique, broad shoulders and a narrow pelvis, hypoplasticity of the mammary glands is observed. As a rule, the main complaints of such patients when contacting doctors is the occurrence of acne or complaints of an irregular menstrual cycle.

With this post-puberty form of the disease, the symptoms of adrenogenital syndrome in girls are noticeable only after puberty. Quite often, symptoms become pronounced after, during non-developing or after spontaneous. It is expressed in violation of the menstrual cycle, the intervals between menstruation increase significantly, menstrual flow becomes scarce, delays often occur.

In this case, hyperandrogenism is characterized by relatively mild signs of manifestation, hirsutism is almost not expressed and is manifested only in slight hair growth on the white line on the abdomen, a little hair can be on the legs, near the nipples, or above the upper lip. The girl’s mammary glands develop in the same way as her peers, the physique is formed according to the female type, metabolic disorders are not manifested.

Diagnosis of adrenogenital syndrome

Adrenogenital syndrome can be detected using modern hormonal researchas well as visual inspection. At the same time, phenotypic and anamnestic data are taken into account, such as hair growth in places that are not typical for women, male body build, development of the mammary glands, skin condition and general appearance, enlarged pores and the presence of acne. Adrenogenital syndrome is characterized by a significant violation of the synthesis of steroids on 17-SNPs, therefore, the presence of this disease is evidenced by an increase in the level of hormones in the blood and the detection of two hormones - DEA-C and DEA, which are considered to be testosterone precursors.

It is necessary to determine the indicator of 17-KS during the diagnosis, detected by analysis of urine for the presence of androgen metabolites in it. During a blood test to diagnose adrenogenital syndrome, the level of the hormones DEA-C and 17-SNP is determined. With a comprehensive examination for a complete diagnosis, it is necessary to consider the symptoms of hyperandrogenism and other disorders in the endocrine system. In this case, the indicator of 17-KS in the urine and the level of the hormones DEA-C, T, 17-ONP, and DEA must be detected twice - first before the test with other glucocorticoids, and then after its implementation. If the level of hormones in the analysis decreases to 70-75%, this indicates the production of androgens exclusively in the adrenal cortex.

Accurate diagnosis of adrenogenital syndrome includes Ultrasound of the ovariesduring which anovulation , it can be determined if follicles of various maturity levels are present that do not exceed preovulatory sizes. Typically, in such cases, the ovaries are enlarged, but, unlike polycystic ovary syndrome, with adrenogenital syndrome, they do not show an increase in the volume of the stroma, nor the presence of small follicles directly under the capsule of the ovary. In diagnostics, measurement of basal temperature is often used, while the characteristic duration of the phases testifies to the disease - a long first phase of the menstrual cycle and a short second phase.

During the treatment of adrenogenital syndrome glucocorticoid preparationsthat can correct hormonal function in the adrenal glands. Quite often, doctors use a drug such as dexamethasone the daily dose of which should not exceed 0.5-0.25 mg. During treatment, regular monitoring of the level of androgens in the blood of the patient and the metabolites in the urine is necessary. If after this the menstrual cycle returns to normal, therapy can be considered successful and effective. After drug treatment, ovulatory cycles should appear, the presence of which can be detected by measuring basal temperature. If at the same time a change in the phases of the menstrual cycle and their normalization was detected, then in the middle of the menstrual cycle, a woman may become pregnant.

But even during pregnancy, it is necessary to continue therapeutic treatment glucocorticoids up to the 13th week to avoid spontaneous miscarriage. By this time, the placenta is already properly formed, which will ensure the production of a sufficient amount of hormones necessary for the proper formation of the fetus. Patients suffering adrenogenital syndrome , careful monitoring by doctors at all stages of pregnancy is necessary, full-fledged treatment at the first stages of fetal formation is especially important. Basal temperature should be measured daily until the 9th week of pregnancy, ultrasound diagnostics are necessary every two weeks to identify myometrium tone and examine the condition of the detachment of the ovum.

If the patient has previously experienced spontaneous miscarriages you need to take estrogen-containing drugs to significantly improve the blood supply to the embryo during fetal development. As preparation for pregnancy, women are prescribed a drug whose daily dose is 0.25-0.5 mg, or in an amount of 1-2 mg. The condition of the woman must be carefully monitored, especially attention should be paid to complaints of pain in the lower abdomen, as well as the presence of bloody discharge from the genitourinary tract.

Now with adrenogenital syndrome in the treatment of not bearing a pregnancy, even during the I-II trimester, a drug is used that is analogous to natural. This drug is not characterized by androgenic effect, which compares favorably with the means of the norsteroid series, the use of which can lead to masculinization of the fetus, especially female. This drug is also used to treat cervical insufficiency , which is often a concomitant disease with adrenogenital syndrome.

If pregnancy, despite the therapy, does not occur, ovulation does not occur, and the duration of the phases of the menstrual cycle remains the same, in addition to glucocorticoid therapy, it is necessary to stimulate the onset of ovulation. For this, it is used, prescribed in a dose of 50-100 mg at certain stages of the menstrual cycle. When a woman goes to the doctor only with complaints of excessive male hair growth, irregular menstruation, or pustular rashes on the face and body, but is not interested in pregnancy, the therapy is already carried out with other drugs.

As a rule, such funds contain antiandrogens and most commonly used among them . In the presence of hirsutism in a single complex with it is appointed cyproterone acetate whose dose is 25-50 mg per day. The course of treatment with this drug is designed for 12-14 days. A full-fledged drug treatment takes from three months to six months, only then the therapy becomes effective. But the cause of the pathology remains unresolved, therefore, after cessation of treatment, the symptoms of adrenogenital syndrome begin to appear again.

The use of glucocorticoids, allowing normalization of ovarian function, does not lead to a significant decrease in hirsutism. To get rid of this problem, you must take oral contraceptives with progestins, such as , , norgestimate . Among non-hormonal drugs, one can take which should be taken for six months at 100 mg daily, in this case, a significant decrease is observed in most patients hirsutism .

On post-puberty form hormonal drugs, as a rule, are not prescribed for patients who do not want to become pregnant, especially if the delays are not long-term and acne on the skin is very slight. If a woman needs to prescribe hormonal contraceptives, drugs such as, gestodene , desogestrel , norgestimate but taking such medications for more than a year in a row is not recommended.

Adrenogenital syndrome (abbr. AGS) is a hereditary disease, it is caused in children by a violation in a particular gene. Such genes are called mutant. With AGS, adrenal dysfunction is observed. These are the glands that produce hormones, they are located next to the kidneys. The adrenal glands produce various hormones necessary for the normal functioning and development of the body. Among the hormones, the development and synthesis of which may be impaired, the following can be noted: cortisol, necessary to withstand the body stress and the penetration of infections; aldosterone - a hormone to maintain blood pressure and kidney function; androgen is a hormone that is necessary for the normal growth of the genitals.

In people with ACS, enzyme deficiency, called 21-hydroxylase, is usually observed. As a result, the transformation of cholesterol into aldosterone and cortisol, which are controlled by this enzyme, is disrupted. Along with this, there is an accumulation of the precursors of aldosterone and cortisol, which are converted (normally) into male sex hormones - androgens. With AGS, many precursors of aldosterone and cortisol accumulate, resulting in the formation of a large number of these hormones, which is the main cause of the occurrence of AGS.

Symptoms of adrenogenital syndrome

Types

There are several types of adrenogenital syndrome, but in almost 90% of cases, the syndrome is caused by a deficiency of 21-hydroxylase enzymes. Clinically, there are three main forms of 21-hydroxylase deficiency. Two forms are called classic. The first is known as virilizing, which is due to the high level of androgens, which leads to excessive masculinization, that is, to excessive growth of sexual characteristics. This is more noticeable in girls by the high development of the genitals after birth. At the same time, the development of the genital organs (ovaries and uterus in these girls normally occurs). The second form is salt-losing. This variety is associated with insufficient work of the synthesis of aldosterone - a hormone that is necessary for the return of salt into the bloodstream through the kidneys. In the third form of 21-hydroxylase deficiency, signs of excess appear in boys and girls after birth.

Adrenogenital syndrome in boys and girls can be inherited in an autosomal recessive manner, that is, in one generation, patients in the family accumulate. This inheritance is due to the appearance of a fragment of the family tree in which the newborn was born with adrenogenital syndrome. On the line of the genealogy of men and women, only one chromosome of 23 pairs can be noted, which is available in humans. This chromosome contains a mutant or normal gene for adrenogenital syndrome.

A child has a mutant gene in such chromosomes. In each of the parents, mutant genes can be contained in only one chromosome, and the other chromosomes are normal and therefore they are healthy. These people are carriers of mutant genes. A mother from a grandmother has a mutant gene in only one chromosome, as does a father from a grandfather. They, like the parents of a sick child, are not sick, but they passed on chromosomes that have a mutant gene to children. In the second grandmother and grandfather, both chromosomes have only the normal gene. Therefore, with recessive inheritance, only the family member who receives both chromosomes with a mutant gene from their parents gets sick. All other members of the family are healthy, including those with a mutant gene.

There are 3 clinical forms:

simple virilization;
with loss of salts (the most severe form, begins at the age of 2 to 7 weeks of life);
hypertension.

The most life-threatening and frequent is the form of salt-losing AGS. If treatment is not scheduled at the time, the child may die. With other forms of the disease, children grow quickly and they manifest very early secondary signs of puberty, in particular, pubic hair.

Phenomena in which the synthesis of aldosterone is blocked:

21-hydroxylase deficiency;
Hydroxysteroid dehydrogenase deficiency.
Increased excretion of ketosteroids.

In the first form, an increase in pregnanediol is observed.

Identification and treatment of adrenogenital syndrome

To avoid the occurrence of such serious diseases as andrenogenital syndrome, it is necessary that the baby be tested for this syndrome immediately after birth. For this procedure, there are programs for screening a child. Screening begins this way: in a newborn on the 4th day of life immediately before discharge from the genus. at home they take a drop of blood from the heels, which is applied to special paper. The blood is dried, and the form on which the name of the child is written and a number of other data necessary for his identification are redirected to the laboratory of the regional consultation. In the laboratory, a study is being conducted that identifies newborns who are suspected of having AGS. In this case, the laboratory sends the child for re-tests.

Usually at this time the pediatrician informs the parents that the first test for the syndrome in their child is abnormal. They have cause for concern. A second baby blood test will be crucial. In some cases, when re-examined, the rate of 21-hydroxylase is normal. This means that the result of the first analysis was incorrect, that is, false positive. The reasons for such studies may be due to laboratory errors. This result, which indicates that the newborn does not have AGS, is immediately reported to the parents.

Successful treatment of forms of adrenogenital syndrome in children has become possible due to recognition of the biochemical nature of the disease - stopping the biosynthesis of cortisol. Increased ACTH secretion causes the formation of androgens, so the goal of medical research is to suppress this secretion. Using feedback mechanisms, it is possible to reduce ACTH - secretion. This is achieved by the introduction of cortisone or prednisone. Doses of prednisolone must be titrated, that is, apply the amount required to lower the renal excretion of ketosteroids to normal levels. As a rule, this is achieved with daily doses of prednisolone in the range of 5-15 mg. In cases with virilized girls, vaginal plastic or partial clitoral removal may be required. The results, naturally with maintenance therapy with prednisone, are effective; in many cases, even pregnancy becomes possible.

The adrenal glands are an endocrine gland that 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 is also enhanced. 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 the infant from the first days of life, but is clinically manifested 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 signs) and even hermaphroditism appear. Reproductive health of a woman is impaired.

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

Causes

There are 2 main causes of adrenogenital syndrome:

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

Signs of adrenogenital syndrome in most cases are inherited. The type of disease inheritance is autosomal recessive. This means that if one of the parents is the carrier of the pathological gene, and the second is healthy, they will have a healthy baby in 50% of cases, and the carrier in 50% of cases. 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 have a healthy baby, 25% are sick, and 50% are carriers of the gene. When planning a family, family members of the patient should consult with a medical geneticist about the risk of the disease in the offspring.

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

Sometimes there is a deficiency of other adrenal cortical enzymes. 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 scarce bleeding;
low voice;
early appearance of pubic and armpit hair during puberty;
excessive hair growth on the face and body (hirsutism);
specific appearance: physique according to the "male" type;
external genitals can resemble male ones; labia imitate scrotum, there is a large clitoris resembling a penis.

Sometimes disease information can only be obtained through genetic testing.

This pathology in boys manifests itself from 3 years. At first, the child grows rapidly, but this process quickly ends, and the growth of a man remains below average. The penis is enlarged, secondary sexual characteristics are expressed. Early puberty is noted, although the testes often do not function, that is, the man is infertile.

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

Prevention of congenital disease - timely genetic consultation of couples planning a conception of a child.

Forms

There are 3 forms of adrenogenital syndrome.

The classical viril form is accompanied by an excess of androgens with a deficiency of aldosterone and cortisol. Children have rapid, but short-lived growth. The external genitalia in them are formed according to the male type. In severe cases, girls are diagnosed with hermaphroditism - externally the gender is male, and the internal genital organs are female.

The salt-forming 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 appear. There is an acute adrenal insufficiency - a life-threatening disorder. With such symptoms in a newborn, you should immediately consult a doctor.

The post-puberty form is manifested only in girls and women. Usually their genitals are normally formed, but there is an excess of androgens. It is manifested by facial hair growth, acne, menstrual irregularities, infertility.

Diagnosis of the disease

A doctor-endocrinologist is involved 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 at a later age. The disease is attributed to a particular species according to the appropriate classification, using such studies:

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

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

A chromosome test is required to confirm the diagnosis.

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

Pathology was registered in photos taken back in the 19th century, when people with this disease were shown at exhibitions and in circuses.

Treatment

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

Immediately after birth, doctors must correctly determine the gender of the baby. If in doubt, a chromosomal study is prescribed - karyotyping. It helps to clarify the genetic gender 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 administration lasts up to 18 months.

After this, pathology in children is treated using hormonal agents 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.

If necessary, plastic surgery is performed on the genitals. They are adjusted in accordance with the genetic gender of the child.

The disease in women is often not manifested in any way. In this case, we are talking about a non-classical form of the disease. Her 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 levels, stimulating sexual development and the possibility of bearing a child is carried out by many clinics in Moscow and other cities. In most cases, the prognosis for life and health is favorable.

Video about adrenogenital syndrome

An inherited disease of the adrenal gland, in which steroidogenesis is impaired due to the functional failure of the enzymes. It is manifested by virilization of the genitals, masculine-like physique, underdevelopment of the breast, hirsutism, acne, amenorrhea or oligomenorrhea, infertility. During the diagnosis, levels of 17-hydroxyprogesterone, 17-ketosteroids, androstenedione, ACTH are determined, ultrasound of the ovaries is performed. Patients are prescribed hormone replacement therapy with glucocorticoids and mineralocorticoids, estrogens in combination with androgens or new generation progestins. If necessary, perform genital plastic surgery.

General information

Adrenogenital syndrome, or congenital dysfunction (hyperplasia) of the adrenal cortex, is the most common of inherited diseases. The prevalence of pathology differs among representatives of different nationalities. Classic variants of ACS in people of the Caucasian race are found with a frequency of 1:14 000 infants, while in Alaskan Eskimos this figure is 1: 282. Significantly higher incidence among Jews. Thus, a nonclassical form of adrenogenital disorder is detected in 19% of Jewish people of the Ashkenazi group. Pathology is transmitted in an autosomal recessive manner. The probability of having a child with such a syndrome with the carriage of a pathological gene in both parents reaches 25%, in the marriage of the carrier and the patient - 75%. If one of the parents has full DNA, the clinical manifestations of the syndrome in children do not develop. If there is ADS in the father and mother, the child will also be sick.

Causes of adrenogenital syndrome

Symptoms of adrenogenital syndrome

In antenatal forms of the disease (simple virile and salting), the main clinical symptom is visible genital virilization. In newborn girls, signs of female pseudohermaphroditism are detected. The clitoris is large in size or has a penis-like shape, the vestibule of the vagina is deepened, the urogenital sinus is formed, the labia minora are enlarged, the perineum is high. Internal genitalia are developed normally. In male infants, the penis is enlarged and the scrotum is hyperpigmented. In addition, with salt-adrenogenital disorder, the symptoms of adrenal insufficiency with severe, often incompatible with life somatic disorders (diarrhea, vomiting, convulsions, dehydration, etc.), which are manifested from 2-3 weeks of age, are expressed.

In girls with simple virile AGS, as they grow older, signs of virilization intensify, dysplastic physique forms. Due to the acceleration of ossification processes, patients are characterized by short stature, broad shoulders, a narrow pelvis, and short limbs. The tubular bones are massive. Puberty begins early (up to 7 years) and proceeds with the development of secondary male sexual characteristics. There is an increase in the clitoris, a decrease in the timbre of the voice, an increase in muscle strength, the formation of the form of the ring-shaped cartilage of the thyroid gland typical of men. The chest does not grow, the menarche is absent.

Less specific are the clinical symptoms of nonclassical forms of virilizing syndrome that have arisen in puberty and after stressful exercises (miscarriage in early pregnancy, medical abortion, surgery, etc.). Typically, patients recall that they had a slight hair growth in the armpits and pubis even at a primary school age. Subsequently, signs of hirsutism developed with the growth of shaft hair over the upper lip, along the white line of the abdomen, in the sternum, in the nipple-areolar zone. Women with AHS complain of persistent acne, porosity and oily skin.

Menarche comes late - to 15-16 years. The menstrual cycle is unstable, the intervals between periods reach 35-45 days or more. Spotting during menses is scarce. The mammary glands are small. The clitoris is slightly enlarged. Such girls and women can have high stature, a narrow pelvis, and broad shoulders. According to the observations of specialists in the field of obstetrics and gynecology, the later adrenogenital disorders develop, the less visible are the external signs characteristic of men, and the more often the leading symptom becomes a violation of the monthly cycle. With rarer genetic defects, patients may complain of increased blood pressure or, conversely, hypotension with low working capacity and frequent headaches, hyperpigmentation of the skin with minimal symptoms of virilization.

Complications

The main complication of adrenogenital syndrome, about which patients turn to obstetrician-gynecologists, is persistent infertility. The sooner the disease appears, the less likely it is to get pregnant. With significant enzyme deficiency and clinical manifestations of a simple virilizing syndrome, pregnancy does not occur at all. Pregnant patients with puberty and post-pubertal forms of the disease have spontaneous miscarriages in the early stages. In childbirth, functional isthmic-cervical insufficiency is possible. Such women are more prone to the emergence of psychoemotional disorders - a tendency to depression, suicidal behavior, manifestations of aggression.

Diagnostics

The diagnosis of antenatal types of AGS with characteristic changes in the genital organs is not difficult and is carried out immediately after childbirth. In doubtful cases, karyotyping is used to confirm the female karyotype (46XX). The diagnostic search becomes more important in the late clinical debut or in the latent course with minimal external manifestations of virilization. In such situations, the following laboratory and instrumental methods are used to detect adrenogenital syndrome:

17-OH Progesterone Level. A high concentration of 17-hydroxyprogesterone, which is the precursor of cortisol, is a key sign of 21-hydroxylase deficiency. Its content is increased 3-9 times (from 15 nmol / l and higher).
Steroid Profile (17-KS). An increase in the level of 17-ketosteroids in the urine of women by 6-8 times indicates a high content of androgens produced by the adrenal cortex. When performing a prednisolone sample, the concentration of 17-KS is reduced by 50-75%.
Serum Androstenedione. Increased performance of this highly specific laboratory diagnostic method confirms enhanced secretion of male sex hormone precursors.
ACTH level in the blood. Classical forms of the disease are characterized by compensatory hypersecretion of adrenocorticotropic hormone by the anterior pituitary gland. Therefore, with virilizing dysfunction syndrome, the indicator is increased.
Ultrasound of the ovaries. In the cortical substance follicles are determined at different stages of maturation, not reaching preovulatory sizes. The ovaries can be slightly enlarged, however, stroma proliferation is not observed.
Basal temperature measurement. The temperature curve is typical for the anovulatory cycle: the first phase is stretched, the second is shortened, due to insufficiency of the corpus luteum, which does not form due to the lack of ovulation.

An increased concentration of renin in blood plasma is also characteristic of the salt-forming variant of AGS. Differential diagnosis of adrenogenital disorders that occurred during puberty and childbearing age is carried out with polycystic ovary syndrome, ovarian androblastomas, adrenal androsteromas, hypothalamic virile syndrome and constitutional hirsutism. In complex cases, endocrinologists, urologists, geneticists are involved in the diagnosis.

Treatment of adrenogenital syndrome

The main way to correct adrenal virile dysfunction is hormone replacement therapy, which compensates for glucocorticoid deficiency. If a woman with latent AGS does not have reproductive plans, skin manifestations of hyperandrogenism are insignificant and monthly periods are rhythmic, hormones are not used. In other cases, the choice of treatment regimen depends on the form of endocrine pathology, leading symptoms and its severity. Often, the appointment of glucocorticoid drugs is supplemented with other medical and surgical methods selected in accordance with a specific therapeutic goal:

Infertility treatment. If there are plans for childbearing, a woman under the control of blood androgens takes glucocorticoids until the ovulatory monthly cycle is fully restored and pregnancy occurs. In resistant cases, ovulation stimulants are additionally prescribed. In order to avoid a miscarriage, hormone therapy is continued until the 13th week of the gestational period. Estrogens are also recommended in the first trimester, and progesterone analogues that do not have an androgenic effect in II-III.
Correction of irregular periods and virilization. If the patient does not plan a pregnancy, but complains of a menstrual cycle disorder, hirsutism, acne, estrogenic and antiandrogenic drugs, and oral contraceptives containing the latest generation of gestagens are preferred. The therapeutic effect is achieved in 3-6 months, however, at the end of treatment, in the absence of hormone replacement therapy, signs of hyperandrogenism are restored.
Treatment of congenital forms of AGS. Girls with signs of false hermaphroditism are given adequate hormone therapy and they undergo surgical correction of the shape of their genitals - cleterotomy, introitoplasty (opening the urogenital sinus). For saline adrenogenital disorders, in addition to glucocorticoids under the control of renin activity, mineralocorticoids are prescribed with an increase in therapeutic doses in case of intercurrent diseases.

Certain difficulties in the management of the patient arise in cases where the disease is not diagnosed in an obstetric hospital, and a girl with severe genital virilization is registered and raised as a boy. When deciding to restore female gender identity, surgical plastic surgery and hormone therapy are supplemented with psychotherapeutic support. The decision to preserve the civil male sex and remove the uterus with appendages is made in exceptional cases at the insistence of patients, but this approach is considered erroneous.

Forecast and Prevention

The prognosis for the timely detection of adrenogenital syndrome and adequately selected therapy is favorable. Even in patients with significant virilization of the genitals after plastic surgery, normal sexual activity and natural childbirth are possible. Hormone replacement therapy for any form of AGS promotes rapid feminization - the development of the mammary glands, the appearance of menstruation, normalization of the ovarian cycle, and restoration of generative function. Disease prevention is carried out at the stage of pregnancy planning.

If cases of a similar pathology were observed in the genus, consultation with a geneticist is indicated. A test with ACTH for both spouses allows you to diagnose heterozygous carriage or latent forms of adrenogenital disorder. During pregnancy, the syndrome can be detected by the results of a genetic analysis of the cells of chorionic villi or the contents of amniotic fluid obtained by amniocentesis. Neonatal screening, carried out on the 5th day after birth, is aimed at identifying an increased concentration of 17-hydroprogesterone for a quick choice of therapeutic tactics.

Adrenogenital Syndrome (AGS) is a serious disorder that threatens both your peace of mind, health and life, and the condition of your children. It affects newborns, adolescents, and people of mature age of 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 give recommendations regarding the prevention of the risk of hypertension 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 brings with it cosmetic, physical and psychological problems.

Pathology is congenital (hereditary) in nature, accompanied by a disorder in the synthesis of hormones in the adrenal cortex. In this case, an excessive amount of androgen, the male sex hormone, is produced. 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?

The pathology is due to hereditary mutations of 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 specified violation will not be inherited by the infant.
When two parents have the indicated mutation, the probability of its occurrence in the newborn is up to 25 percent.
If one of the parents suffers from hormonal abnormalities, and the other is the carrier of a gene mutation, the risk of detecting pathology in the unborn child increases to 75 percent.

The pathogenesis (processes that occur during the disease) of the 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, responsible for the exchange of minerals in the body) abnormally decreases. 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 hypertension with different symptoms:

Virile. Malfunctions in the body occur already at the prenatal stage. Due to excessive secretion of the hormone in adrenogenital syndrome, features of false hermaphroditism (masculinization) are observed in newborn girls, in boys - too large a penis. Children with a virile form of AGS often have excessively pigmented skin of the external genitalia, nipples, and anus. At the age of 2 to 4 years, they express the properties of early puberty (acne, low timbre, body hair), often such children are short.
Salting. It is caused by a lack of aldosterone, expressed in the form of gushing vomiting that is not related to food intake, a prolonged decrease in blood pressure, diarrhea in a child, convulsions. The salt-salt form of adrenogenital syndrome is characterized by a water-salt imbalance, serious malfunctions in the cardiovascular system. This form is most common and is very dangerous because it threatens the life of the patient.
Hypertonic. Rarely, characterized by a protracted increase in blood pressure. Over time, complications of hypertensive AGS occur (cerebral hemorrhage, cardiovascular disorders, decreased vision, renal failure).

Sometimes this hormonal defect may not be congenital, but acquired (post-pubertal form). In this case, it develops as a result of aldosteroma, a tumor that occurs 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 to replenish the list of these signs.

For a simple type of viril form of pathology, common signs are characteristic:

in a baby - vomiting, sluggish sucking, metabolic disturbance, dehydration, high weight and height immediately after birth;
"Male" physique (short limbs, broad shoulders, large trunk);
constantly high blood pressure;
infertility is possible.

In female children, adrenogenital syndrome has the following manifestations:

early puberty (aged 6-7 years) in the absence of a breast;
body hair (body, face, perineum, abdomen, lower legs, chest and back);
lowering the tone of voice;
underdevelopment of the genitals;
the onset of menstruation no earlier than 14-16 years, their irregularity (delay);
a large number of blackheads, porous and oily skin of the face, back;
short stature, male figure.

Symptoms of adrenogenital syndrome

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

too large a penis in childhood;
excessive pigmentation of the scrotum and other areas of the skin;
often short stature.

For a post-pubertal or non-classical (acquired) form of AGS, the following symptoms are characteristic:

body hair;
delays in the menstrual cycle;
often - infertility or spontaneous abortion;
atrophy of the mammary glands;
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 hypertension, you can view photos that illustrate the symptoms of virilization.

How is the diagnosis of adrenogenital syndrome?

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

geneticist;
obstetrician-gynecologist or urologist-andrologist;

Need to be examined by an endocrinologist

dermatovenerologist;
endocrinologist;
pediatric cardiologist;
oculist.

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 that indicate hypertension.

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

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

Ultrasound (ultrasound) of the genitals;
Pelvic ultrasound;

Pelvic ultrasound

magnetic resonance imaging of the adrenal glands and the 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 drugs that provide balanced synthesis of hormones in the adrenal cortex (hydrocortisone tablets - for children). The treatment course lasts a lifetime.
Patients are under life supervision by a gynecologist, endocrinologist.
Sometimes (in case of late diagnosis), girls need surgery (genital correction).
In case of illness with salt-free AGS, the amount of salt and other trace elements used should be increased. Mandatory diet.
Short stature, cosmetic flaws can cause the need for psychological assistance to the patient.
In the case of the post-puberty 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. A timely diagnosis can prevent genital changes in girls. With the right therapeutic approach to the classical 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 a preventative measure, doctors advise resorting to:

genetic counseling (especially when planning a conception of a baby);
avoiding the effects of negative factors on a pregnant woman.

Summary

Adrenogenital syndrome is a serious disease with serious consequences for both women and men. Knowing the features of this disease will help you avoid its complications: infertility, excessive cosmetic problems and, in some cases, death.

If you are planning on having children, you should carefully monitor your own health indicators. Be sure to consult a doctor.