Congenital adrenogenital manifestation syndrome. Adrenogenital syndrome: causes, signs, diagnosis, how to treat, forecast. Adrenogenital syndrome in newborns

02.04.2021

Content

For this pathology, deviations in the structure and functioning of the genital organs are characteristic. The origin of the disease has not yet been established, however, doctors believe that the syndrome develops due to excessive production of androgen's adrenal crusts. The disease can be caused by various tumors or congenital hyperplasia glands.

What is adrenogenital syndrome

Connected adrenal hyperplasia is the most common type of versulizing pathologies. Adrenogenital syndrome is a disease that is known to global medicine, as an acera-gama syndrome. Its development is associated with increased development of androgens and a pronounced decrease in the level of cortisol and aldosterone, the reason why congenital dysfunction of adrenal cortex is used.

The effects of deviation may be serious for the newborn, since the bark of adrenal glands is responsible for producing a huge number of hormones that regulate the work of most organism systems. As a result of pathology in the child's body (it can be observed both in boys and girls) it becomes too many male hormones and very few female.

Type of inheritance

Each form of the disease is associated with genetic disorders: as a rule, anomalies have a hereditary nature and transfers from both parents to the child. More rare cases when the type of inheritance of the adrenogenital syndrome is sporadic - it occurs suddenly during the formation of an egg or spermatozoa. The inheritance of the adrenogenital syndrome occurs an autosomal-recessive way (when both parents are carriers of the pathological gene). Sometimes the disease amazes children in healthy families.

Adrenogenital syndrome (AGS) is characterized by the following patterns affecting the likelihood of a child's defeat:

if parents are healthy, but both are carriers of the Star shortage gene, there is a risk that the newborn will hurt a congenital hyperplasia of adrenal glands;
if a woman or men were diagnosed with syndrome, and the second partner has a normal genetics, then all children in their family will be healthy, but will become carriers of the disease;
if one of the parents is sick, and the second is a carrier of adrenogenegenetic pathology, then half of children in this family will be sick, and the other half - wearing a mutation in the body;
if there are diseases from both parents, all their children will have similar deviations.

Forms

Androgenetic disease is conditionally divided into three types - virile simple, solitary and postpubertate (non-classical). Varieties have serious differences, so each patient requires detailed diagnosis. How the forms of adrenogenital syndrome are manifested:

Virive shape. It is characterized by the absence of signs of presence of adrenal insufficiency. The remaining symptoms of AGS are in full. This type of pathology is extremely rarely diagnosed in newborns, more often - adolescents (boys and girls).
Solly type. Diagnosed exclusively in babies during the first weeks / months of life. In girls, there is pseudo-eroditism (exterior sexual interferences are similar to men, and internal women). The boys with a slumbering syndrome is expressed like this: the sexual term has a disproportionately large size relative to the calf, and the skin of the scrotum has specific pigmentation.
Nonxcasic view. For pathology, the presence of unclear symptoms and the absence of pronounced adrenal dysfunction is characterized, which greatly complicates the diagnosis of AGS.

Adrenogenital syndrome - reasons

Congenital dysfunction of adrenal glands is explained only by the manprootion of hereditary disease, so it is impossible to acquire during life or infected such pathology. As a rule, it is manifested by syndrome in newborns, but rarely AGS is diagnosed in young people with age up to 35 years. At the same time, activate the pathology mechanism can such factors as receiving potent drugs, increased radiation background, side effect from hormonal contraceptives.

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

if the family is at least 1 parent, the child will probably be born without pathology;
a couple, where one carrier, and the other pain of AGS in 75% of cases will be born a sick child;
wearer's carriers have a risk of having a sick child equal to 25%.

Symptoms

AGS does not apply to the number of deadly diseases, but some of his symptoms deliver a person serious psychological inconvenience and often lead to a nervous breakdown. When diagnosing pathology, the newborn parents have time and the opportunity to help a child with social adaptation, and if the disease is found at school age or later, the situation may come out of control.

Install the presence of AGS can be exclusively after the molecular genetic analysis. Symptoms of adrenogenital syndrome, which indicate the need for diagnostics - this is:

non-standard pigmentation of the skin of the child;
steady growth of blood pressure;
inappropriate child's age low growth (due to the rapid ending of the relevant hormone, growth occurs early);
periodic cramps;
digestive problems: vomiting, diarrhea, strong gas formation;
girls have sex lips, the clitoris is underdeveloped or, on the contrary, have increased dimensions;
for boys, external genital organs have disproportionately large sizes;
girls with AGS have problems with menstruation, conception of a child (often accompanied by infertility disease), to dry out the fetus;
in female patients, the genital organs on the men's type often often occurs, and the rising mustache, beard, is observed.

Adrenogenital syndrome in newborns

The disease can be detected at an early stage in newborns, which is due to the holding of neonatal screening for 4 days after the birth of the child. During the test, a drop of blood from the baby's heel is applied to the test strip: if the reaction is positive, the child is transferred to the endocrinological dispensary and re-diagnose. After confirmation of the diagnosis begins the treatment of AGS. If adrenogenital syndrome in newborns is found early, then therapy is easily held, in cases of late detection of adrenogenenetic pathology, the complexity of treatment is growing.

In boys

Disease in male children is developing, as a rule, from a two-year or three-year-old age. Imprinted physical development is happening: increasing genitals, active fraud is carried out, erections begin to appear. At the same time, the testicles are lagging behind in growth, and in the future they will continue to develop. As in girls, the adrenogenital syndrome in boys is characterized by active growth, but it lasts not long and in the end a person still remains low, a centerast.

Girls

Pathology of girls is often expressed immediately at birth in a virile form. False female hermaphroditism, characteristic of AGS, is characterized by an increased clit size, while the hole of the urethra is located directly under its basis. In this case, sex lips are reminded in the form of a split men's scrotum (urogenital sinus is not divided into the vagina and urethra, and stops in development and opens under a peniso-shaped clitoris).

Not rarely adrenital syndrome in girls is so brightly expressed that at the birth of a baby it is difficult to immediately install its floor. In the period 3-6 years, the child is actively growing on the legs, pubis, back and girl outwardly becomes very similar to the boy. Patients AGS children grow much faster than their healthy peers, but their sexual development will soon cease. At the same time, the dairy glands remain small, and menstruation is either completely absent, or they appear irregularly due to the fact that underdeveloped ovaries cannot fully fulfill their functions.

Diagnosis of adrenogenital syndrome

You can identify the disease with the help of modern studies of the hormonal background and visual inspection. At the same time, the doctor takes into account the anamnestic and phenotypic data, for example, the overexpication in atypical places, the development of the mammary glands, the male body type, the general view / health of the skin, the AGS is developing due to the insufficiency of 17-alpha hydroxylase, so in the patient's blood Track the level of DEA-C and DEA hormones, which are precursors of testosterone.

Diagnostics also includes urine analysis to determine the indicator 17-CC. Biochemical blood test allows you to set 17-OP and DEA-C hormone levels in the patient's body. Comprehensive diagnostics, in addition, implies the study of symptoms of hyperandrode and other disorders of the endocrine system. At the same time, the indicators are checked twice - to the sample with glucocorticosteroids and after it. If during the analysis, the hormone level is reduced to 75% or more percent - this indicates the development of androgens exclusively by the adrenal cortex.

In addition to analyzes for hormones, the diagnosis of adrenogenital syndrome includes ovarian ultrasound, in which the doctor defines annevation (it can be revealed if follicles of different levels of maturity are observed that do not exceed the preventive volumes). In such cases, the ovaries have increased dimensions, but the volume of stroma is normal and there are no follicles under the organs capsule. Only after the detailed examination and confirmation of the diagnosis begins the treatment of adrenogenital syndrome.

Adrenogenital syndrome - treatment

ABC is not fatal pathology with fatal outcome, therefore the probability of the development of irreversible changes in the patient's body is extremely small. Nevertheless, modern treatment of adrenogenital syndrome does not boast of its effectiveness and effectiveness. Patients with such a diagnosis are forced to take hormonal drugs for life to replenish the shortage of hormones of glucocorticosteroids, and deal with a sense of inferiority.

The prospects for such therapy remain unemployed, but there is evidence that indicate a high probability of developing concomitant AGS pathologies of the heart, bones, vessels, gastrointestinal organs, oncological diseases. This explains the need to carry out people with dysfunction of the adrenal cortex regular surveys - to do the edgen of the bones, an electrocardiogram, an ultrasound of the peritoneum, etc.

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Adrenogenital syndrome - This is a complex of clinical laboratory disorders due to inherited defects of corticosteroid products against the background of a pronounced lack of enzyme 21-hydroxylase. Signs of adrenogenital syndrome can manifest themselves almost at any age with the preferential defeat of the representatives of the female half of humanity.

Causes of adrenogenital syndrome

The immediate etiopathogenetic factor in the occurrence of adrenogenital syndrome is the insufficient products of enzymes that enhance influence on the process of production of hormonal substances with adrenal crusts. In the body of a healthy person, the regulation of normal synthesis is provided by a genome localized in one pair of the sixth autosomes, and therefore adrenogenital syndrome should be attributed to the group of diseases with a recycable type of inheritance. There is a group of patients with a hidden form of adrenogenital syndrome, the so-called carriers who are married to a person with signs of this pathology can conceive a child with obvious signs of this deviation.

The basis of the etiopathogenetic classification of the adrenogenital syndrome is the nature of the enzymatic defect. Thus, the virile form is accompanied by only partial insufficiency of the enzyme 21-hydroxylase, while the soluble form is characterized by additional disorders of the water and mineral exchange processes, due to the failure of the aldosterone and cortisol of the adrenal crust.

The boys feature adrenogenital syndrome are extremely rare and accompanied by minor clinical manifestations in the form of premature development of secondary phenotypic genital signs.

According to numerous scientific research in the development of adrenogenital syndrome in different layers of the population, the persons of the European race suffer more pathology.

Forms of adrenogenital syndrome

In the worldwide practice, endocrinologists use the clinical classification of adrenogenital syndrome, according to which one basic, or classical form of the disease and two non-classical forms with a slight flow of a clinical picture are distinguished. The formation of phenotypic features of this rare pathology has a clear connection with the degree of insufficiency of the enzyme of 21-hydroxylase and the concomitant hyperandrogenia.

Congenital adrenogenital syndrome occurring in classical form, is provoked by changes in the functioning of the adrenal glands during the period of their bookmark during the period of intrauterine development of the fetus. Due to the fact that the excessive products of androgens have a direct impact on the formation of primary genital signs, the internal stress in the female type is complete, while the process of the formation of external genital organs is at the initial stage of development.

In the future, the excessive effect of testosterone provokes virization of only outdoor genital organs in the female fetus, that is, an increase in the sexual tubercle occurs, which turns into the clitoris of the peniso-shaped form, draining the labiosacral folds and the formation of pseudomicomics, violation of the separation of urogenital sinus on the vagina and urethra. This type of virilization makes it difficult to determine the right sex of the child after birth.

In addition to changes in the form and functioning of the genital organs, the child has a hyperplasia of adrenal glands, due to excessive androgen products from the beginning of the adrenal bookmark.

Adrenogenital syndrome in children occurring in classical form is a justification for dynamic observation in a pediatrician endocrinologist, which determines the optimal age of the patient for conducting surgical plastics of development anomalies and further drug treatment aimed at developing a child in the female type.

In a situation where the innate enzyme defect of 21-hydroxylase did not affect the functioning of adrenal glands during the development of the fetus, there is another critical period of the development of phenotypic signs of adrenogenital syndrome - a period of pubertal development. In this regard, this form of adrenogenital syndrome has the second name "pubertate".

The debut of the development of clinical symptoms falls for the period of Adrenarche, which comes 3 years before menstruation and is in the early development of secondary sexual signs, excessive overeximation and pubertal "growth jump." For this category of patients, a characteristic feature is the lag of the onset of the first menstruation, which falls at age 16. In girls with adrenogenital syndrome, the period of normalization of the menstrual cycle occupies a very long period of time.

Patients with a pubertal form of adrenogenital syndrome have characteristic phenotypic signs that distinguish them from the peers (fatty skin type with a tendency to appear akne follicular type, excess rod stem covering, high height and wide shoulders, mammary hypoplasia). An experienced endocrinologist after the initial inspection of the patient can establish a correct diagnosis.

In the event of excessive androgen's excessive products after the period of puberty, namely at the age of twenty years, the girls are concerned about the impossibility of conceiving the child and frequent episodes of spontaneous miscarriage on the early period of pregnancy. The difficulties of conception are explained by the irregularity of the menstrual cycle with a tendency to elongate the intermenstrument period. A coarse change of phenotype with this pathology is not observed and the diagnosis is possible only after a comprehensive examination of the patient with the use of laboratory and instrumental techniques.

Diagnosis of adrenogenital syndrome

The presence of specific clinical manifestations in a patient allows an endocrinologist or a gynecologist after the initial inspection to suspect the presence of adrenogenital syndrome, the final significant conclusion can be established only after laboratory surveys. Hormonal diagnosis of adrenogenital syndrome is a gold standard for a long period of time.

Adrenogenital syndrome is characterized by a violation of the synthesis of corticosteroids in the phase of products 17-ONP, an increase in the level of this particular parameter in the blood is the diagnostic criterion of this endocrine pathology. The urine test with the definition of saturation of 17-ketosteroids, which are androgen metabolites, is of great importance in the diagnosis of adrenogeneital syndrome.

In a difficult clinical situation, when there is a need for a differential diagnosis between adrenogenital syndrome and other endocrinological pathologies, accompanied by hyperagratenia, it is necessary to produce a drug-free load test with glucocorticosteroid. In patients with classic adrenogenital syndrome, after this sample, the level of steroids is reduced by at least 70% in the blood and urine.

Among the instrumental methods of visualization, ultrasound scanning of the small pelvis organs with the determination of the maturity of the follicular apparatus of the ovaries has the greatest informativeness. Due to the fact that most patients with adrenogeneital syndrome, there is an annestructive menstrual cycle, during echoscopy there is a slight increase in the parameters of the ovaries with the presence of a large number of immature follicles.

Treatment of adrenogenital syndrome

Laboratory and instrumental confirmation of the diagnosis is an rationale for adequate replacement hormone therapy with the use of glucocorticosteroid drugs.

The purpose of any glucocorticioderity must necessarily be strictly dosed and controlled by laboratory indicators of blood and urine. The use of dexamethasone in a daily dose of 0.25 mg should be made until the moment of eliminating the main clinical manifestations of the disease (normalization of the cycling temperature cycling, elimination of dysmenorrhea, echoscopically confirmed elimination of the multifollicularity of the ovaries). The absolute criterion for the positive effectiveness of hormone therapy in this case is the onset of planned pregnancy, but this fact is not an indication for interrupting the drug reception. Dexamethasone during pregnancy is advisable to apply until the formation of the placenta, which ensures normalization of the hormonal status of the fetus.

Women in whom the occurrence period coincided with the reception of the hormonal drugs of glucocorticoid series is subject to hospitalization in the hospital in order to conduct dynamic ultrasound research, as well as determining the concentration of 17-ketosteroids in the urine. The presence of a pregnant woman hosting hormonal therapy in order to treat adrenogenital syndrome, spontaneous abortions in history is a justification for the appointment of estroin-containing hormonal funds, the action of which is aimed at improving the intake of oxygenated blood to a developing fruit. Among the wide range of this drug group, microfallines were most common, the effectiveness of which is maximum in the therapeutic dose of 0.25 mg per day. The appearance of bloody discharges or pulling pain in the lower part of the abdomen is an indication to cancel the drug.

Due to the fact that women suffering from adrenogenital syndrome have problems with tooling the fetus and a tendency to the emergence of spontaneous miscarriage on the early period of pregnancy, appropriate in this situation is the appointment of a natural analogue of the Dufeston progesterone in a daily dose of 20 mg. The long-lasting intake of this drug eliminates the easticcakersvical insufficiency, which is the most common cause of spontaneous abortion.

The drug providing a stimulating effect on the process of ovulation development is clomiphene, the use of which is recommended to be combined with glucocorticoid therapy. Patients must be necessary to observe the treatment regime, which consists in receiving it in a daily dose of 100 mg from the third day of the menstrual cycle every month before the occurrence of pregnancy.

In a situation where signs of adrenogenital syndrome debuted in a mature age, when a woman is not interested in maintaining a reproductive function, the treatment of the disease is recommended using combined drugs containing antiderogens and estrogens (Androkur in 25 mg dosage). It should be borne in mind that this group of drugs refer to the category of symptomatic, eliminating minor phenotypic manifestations of the disease, and during the abolition of drug intake, the opposite development of the disease is possible.

To combat hypergismism, hormonal therapy does not apply and in this situation endocrinologists resort to the appointment of Veroshpiron in a daily dose of 100 mg in the morning, the long-lasting reception of which significantly reduces the manifestation of excess extension.

The area of \u200b\u200buse of hormonal contraception preparations containing a low-volume gestagne component, devoid of androgenic influence, is a group of patients with signs of late postpubertate adrenogenital syndrome. Before applying this group of drugs, it is necessary to make sure the patient's reluctance to maintain a reproductive function, since the data of hormonal agents with long-term reception provoke the development of hypogonadotropic type.

Congenital adrenogenital syndrome - Genetic disease due to the insufficiency of enzymatic adrenal cortex systems with a decrease in glucocorticoid synthesis and mineralocorticoids at simultaneously increased androgen products.

Increased products of adrenal genital steroids are known in different forms and accompanies various diseases and syndromes. The most characteristic general manifestations of adrenal hyperandrogenism are garisutism, oligomenoracy, acne and virilization.

Causes of adrenogenital syndrome

Adrenal hyperagratenism can have different etiology. Traditional collective name for violations of genital hormone products adrenal glands - adrenogenital syndrome. This team includes both acquired and congenital forms of pathologies.

Acquired violations of sexual functions and signs due to the increased products of adrenocortic sex hormones are associated with different tumors that produce sex steroids, and congenital - with hereditary defects of steroid enzymes. Acquired adrenogenital syndromes in adolescents are quite rare. Tumors producing sex steroids are usually developing in adults.

In fact, congenital adrenogenital syndrome is a group of hereditary diseases. The congenital form of adrenocortic hyperandrogenism is associated with several different autosomal-recessive hereditary defects of steroid enzymes, under which the metabolic block has favorably favors the synthesis of Androsteroids to the detriment of cortisol production, and sometimes mineralocorticoids. These hereditary diseases enter the collecting group, known as the "congenital hyperplasia of adrenal cortex."

Under the action of recessive genes, one of the enzymes of corticosteroid biosynthesis is affected, starting from the embryonic period. The pathogenesis is due to a violation of the products of one or several corticosteroids, the result is a delay in their synthesis at the stage of sex steroids, why almost all forms of such enzymopathies give different degrees of sexual disorders.

There is a whole family of gene mutations blocking those or other stages of steroidogenesis and causing variants of this syndrome. These include: Defects of 21-hydroxylase, 11-B-hydroxylase, 3-α-oldhydrogenase, 17-hydroxylase, 17-reductase, and reductase, 20,22-desmolase and 17,20-desmolase.

Clinical picture of adrenogenital syndrome

The clinical picture of congenital adrenogenital syndrome is defined as a form of an enzymatic defect and the degree of severity of cortisol products, mineralocorticoids and testosterone. In case of insufficiency of 21-hydroxylase, adolescents are usually shorty, disproportionately folded, with broad shoulders and severe muscles. The development of girls is going on a heterosexual type, and at the young men - by isosexual. As a result, both sexes progresize virilization. Girls have no monthly. The uterus, the ovaries and the dairy glands do not develop, there is hypertrophy of the clitoris, hair growth - on the male type, the voice is low. At young men, despite explicit masculinization, with a large penis, the testicles and azospermium hypoplasia develop.

Masculinization of girls from birth is the reason for the mistaken assignment of male. The boys may develop the tumor of the testicles - leildigoma, in the future they can become fruitless. The pronounced deficiency of mineralocorticoids (75% of cases of congenital adrenogenital syndrome due to 21-hydroxylase deficiency) leads to loss of salt and to the development of adrenal cortex deficiency, often even with death.

With the predominance of the virile shape of the syndrome, partial production of mineralocorticoids more or less compensates for the loss of sodium and chlorides, but a pronounced deficiency of allydosterone with a predominantly soliter form always leads to hyponatremia.

Both sexes are found early closure of bones, high levels of testosterone and 17-oxyprogesterone, hyper excrelation of 17-ks with urine.

Treatment of adrenogenital syndrome

Treatment of adrenogenital syndrome is carried out continuously and life. With a rigging form in a diet, it is limited or completely excluded products rich in potassium (grapes, raisins, dried apricots), add a table salt. Treatment starts with dexamethasone (2 mg every 6 hours for 2 days, followed by a decrease in dose to 0.5-1 mg per day), after which they are moving to a constant reception of prednisolone (10 mg per day) under the control of the level of 17-oxyprogesterone in the blood and 17-CC - in the urine. Disorders of mineral exchange are compensated by the addition of the cooking salt. The adequacy of therapy is estimated at the pace of physical development and dynamics of bone age, as of genitalia, according to the presence of Kushingoid symptoms, in terms of the production of 17-hydroxyprogesterone in the blood and excretion of 17-ks in the urine.

In recent years, a fluoudrocortisone (Cortineoff, Floerinf) is used with glucocorticoid syndrome, along with glucocorticoids. With the addition of mineralocorticoids, the current even virile form is clearly improved. With pronounced masculinization, girls it is advisable to resort to cosmetic operations to avoid psychotrames. With adrenal tumors, surgical treatment is necessary. Prevention. Prevention of congenital adrenogenital syndrome as a genetic disease is still problematic. In closed populations (Eskimos) and isolates, exogamatic marriages can be recommended.

Teenagers with congenital adrenogenital syndrome need lifelong observation by an endocrinologist with continuous glucocorticoid therapy, as well as mineralocorticoids. In girls with congenital adrenogenital syndrome, it is impossible to change the floor on a male without an attempt to treat glucocorticoids, which gives an amazing effect. The unconditional desire to preserve the male sex - a sign of the doctor's ignorance. A psychiatrist, an endocrinologist, psychologist, sexologist, gynecologist and urologist should participate in resolving the issue of gender.

With poor treatment of treatment, severe complications may cause disability. With early adequate therapy, the ability to work is preserved. After surgery about the masculinating tumor of one adrenal gland, glucocorticoids will soon be canceled, since the second adrenal gland itself begins to function

According to the materials of Yu.I. Stroyev and L.P. Churilova

Divided into a congenital form, which is considered classic , and non-classical light shapes to which postpubertate and pubertata . They are classified depending on the hyperandrode and the level of C21-hydroxylase deficiency. With this disease, the adrenal glands produces an excessive amount androgenAt the same time, the hormone gonadotropin stands out in insufficient quantity. As a result, a significant violation of the subsequent growth of follicles occurs, as well as their ripening.

The main cause of adrenogenital syndrome is the congenital deficit of such an element as C21-hydroxylase - a special enzyme involved in the synthesis of androgens produced in the adrenal cortex. This enzyme is formed in sufficient amounts under the influence of the gene, which is in the short shoulder of autosomes - couples of the 6th Chromosome . As a rule, the inheritance of this disease is distinguished by an autosomal-recycable character. If there is only one pathologically changed gene in the body, the disease may not develop, and only when pathological genes are in various chromosome pairs, adrenital syndrome can develop.

Symptoms of adrenogenital syndrome

With an innate form of adrenogenital syndrome, during the period of intrauterine development, during the formation of the hormonal function of adrenal glands, an excessive amount of androgen is produced. Excess Androgen leads to the emergence sexual Differentiationrelating to the Female Farpet. By the 9-11 week of intrauterine development, the fruit already has a sexual structure and organs characteristic of the female organism, although the external genital organs at this stage are just beginning to be formed. At the same time, the female phenotype is formed from the initial type.

On the female fruit and its external genital organs affects excessive development, as a result, a significant increase in the sexual tubercle occurs, which then takes the form of a peniso-shaped clitoris, the labiosacral folds merge and shape resemble the scrotum. The urogenital sine opens under a deformed clitoris, not distributed initially on the vagina and urethra. Therefore, at the birth of a child, it is often incorrectly determined by his sexuality. Since the gonads ovarian acquire a female form, congenital adrenogenital syndrome is often called false female hermaphroditism, during the period of intrauterine development, androgen hyperproduction leads to adrenal hyperplasia.

Children suffering from such a disease need constant control by children's endocrinologists. Modern medical techniques provide for the timely surgical treatment of adrenogenital syndrome, in order to operate by installing the floor and in the future, the child has developed on the female type. Now, patients are often addicted to the gynecologists-endocrinologists, in which the adrenital syndrome is characterized by a late form.

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

Menstrual cycle with this disease is quite unstable, menstruation proceeds irregularly, the girls have a tendency to oligomoryee. The gap between menstruation is significant, as a rule, it is 30-45 days.

It is rather pronounced, quite often it is manifested in the growth of rod hair located on the white lines of the abdomen, in the growth of the hair above the upper lip on the male principle, on the hips and around the nipples. A large amount of sebaceous glands appears on the body, it is often obscured by the hair follicles, the skin on the face becomes fat, the pores increase and expand. Girls suffering from a puberty form of adrenitoenital syndrome are characterized by quite high growth and male physique, wide shoulders and a narrow pelvis, there is a hypoplasticity of the mammary glands. As a rule, the main complaints of such patients when contacting doctors become the occurrence of acne or complaints about the irregular menstrual cycle.

With this postpubertatic form of the disease, the symptoms of the adrenogenital syndrome, girls are noticeable only after puberty. Quite often, symptoms become pronounced after, during undeveloped either after spontaneous. It is expressed in the impaired menstrual cycle, the gaps between menstruation increase significantly, the menstrual isolation becomes scarce, often the delays occur.

In this case, hyperandrode is characterized by relatively soft signs of manifestation, the girsutism is almost not expressed and manifests itself only in a slight oath on the white line on the stomach, some hair can be on the legs, near the nipples, or above the upper lip. The dairy glands of the girl are developing in the same way as its peers, the physique is formed on the female type, metabolic disorders are not manifested.

Diagnosis of adrenogenital syndrome

Adrenogenital syndrome can be revealed using modern hormonal studies, as well as with visual inspection. At the same time, phenotypic and anamnestic data are taken into account, such as fraction in uncharacteristic places, the physique on the male principle, the development of the mammary glands, the condition and general view of the skin, extended pores and the presence of acne. Adrenogenital syndrome is characterized by a significant impaired synthesis of steroids on 17-ONP, so the presence of a given disease is evidenced by the increase in the level of hormones in the blood and the detection of two hormones - DEA-C and DEAs, which are considered testosterone precursors.

An indicator of 17-COP must also be determined during the diagnosis detected by the urine analysis for the presence of androgen metabolites in it. During blood testing for the diagnosis of adrenogenital syndrome, the level of DEA-C and 17-ONP hormones is determined. With a comprehensive inspection for full-fledged diagnostics, it is necessary to consider symptoms of hyperandrode and other disorders in the work of the endocrine system. At the same time, the 17-CC indicator in the urine and the level of DEA-C hormones, T, 17-OPP, and DEA must be detected twice - first to the sample with other glucocorticoids, and then after its implementation. If the hormone levels during analysis decreases to 70-75%, this indicates the development of androgens solely in the adrenal cortex.

Accurate diagnosis of adrenogenital syndrome includes Uzi ovarian, during which is detected anovulation It can be determined if there are follicles of various levels of maturity, which do not exceed the preventive dimensions. As a rule, in such cases, the ovaries are increased, but, in contrast to the polycystic ovary syndrome, with an adrenogenital syndrome, they do not have any increase in the volume of stroma nor the presence of small follicles directly under the ovarian capsule. The diagnosis is often used to measure basal temperature, while the characteristic duration of the phases is evidenced by the disease - the long first phase of the menstrual cycle and the second phase in time.

During the treatment of adrenogenital syndrome, use glucocorticoid drugswhich can adjust the hormonal function in the adrenal glands. Quite often doctors use such a drug like dexametanone , the daily dose of which should not exceed 0.5-0.25 mg. During treatment, regular control of the level of androgen in the blood of the patient and metabolites in the urine is needed. If after that the menstrual cycle is normalized, you can consider therapy successful and efficient. After drug treatment, ovulatory cycles should appear, the presence of which can be revealed by measuring the basal temperature. If the change in the phases of the menstrual cycle and their normalization was revealed, then in the middle of the menstrual cycle, a woman may have a pregnancy.

But even during pregnancy, it is necessary to continue therapeutic treatment glucocorticoids Up to the 13th week to avoid spontaneous miscarriage. By this time, a placenta is already correctly formed, which will ensure the development of a sufficient number of hormones necessary for proper formation of the fetus. Patients suffering adrenogenital syndrome It is necessary to carefully observe doctors at all stages of pregnancy, especially important treatment in the first stages of the formation of the fetus. Basal temperature must be measured daily until the 9th week of pregnancy, every two weeks need ultrasound diagnostics to reveal miometrium tone And explore the condition of the sip of the fruit egg.

If the patient has previously happened spontaneous miscarriage Estrogen-containing drugs should be taken to significantly improve the blood supply to the embryo during intrauterine development. As preparing for pregnancy, women prescribe a drug, the daily dose of which is 0.25-0.5 mg, or in the amount of 1-2 mg. The state of the woman needs to be carefully monitored, attention should be paid to the complaints on the occurrence of pain at thenime of the abdomen, as well as the presence of bloody secretions from the urinary tract.

Now, with adrenogenital syndrome in the treatment of non-toaching pregnancy, during the I-II trimester, a drug is used, which is analog natural. This drug is not characterized by the androgenic effect, which distinguishes it from the means of a nucleonid row, the use of which can lead to the masculinization of the fetus, especially female. This drug is used for treatment eastian-cervical insufficiency which is often a concomitant disease with adrenogenital syndrome.

If the 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 offensive offensive. For this, it is used, appointed in a dose of 50-100 mg at certain stages of the menstrual cycle. When a woman appeals to the doctor only with complaints about excessive masculine principle, irregular menstruation, either on the mouth of minerals on the face and body, but not interested in pregnancy, therapy is carried out by other drugs.

As a rule, such funds contain antiandrogens and most often among them is used . In the presence of girsutism in a single complex with it is assigned ciproteron acetate The dose of which is 25-50 mg per day. The course of treatment with this drug is designed for 12-14 days. Full-fledged drug treatment takes from three months to six months, only then the therapy becomes effective. But the cause of pathology remains not eliminated, so after the cessation of the treatment, the symptoms of the adrenogenital syndrome begin to appear again.

The use of glucocorticoids, allowing to normalize the function of the ovaries, does not lead to a significant decrease in the girsutism. To get rid of this problem, you need to take oral contraceptives with progestins, such as , , norgestimat . Among the non-neuronal drugs can be allocated to be taken for 100 mg for six months daily, in this case, most patients have a significant decrease in the majority of patients. girsutism .

On the postpubertate form This disease, patients who do not want to become pregnant, hormonal drugs are usually not prescribed, especially if the delays do not wear a long character, and the acne rashes on the skin are completely insignificant. If a woman needs to assign hormonal contraceptives, you should give preference to such drugs like, guestful , desogestrel , norgestimat But the adoption of such drugs for more than a year is not recommended.

The doctors

Medicine

Diet, food with adrenogenital syndrome

List of sources

Karev, MA Adrenogenital syndrome: Modern aspects of diagnosis and treatment / M.A. Karev // Pharmatek. - 2011. - № 9.
Sobolev E.L. Sample with ACTH in the diagnosis of non-classical shape of adrenogenital syndrome / Sobolev E.L., Osinovskaya N.S., Potin V.V. // Actual problems of modern endocrinology: Materials of the IV All-Russian Endocrinologists Congress. - SPb., 2001.
Gynecology: National Guide / Ed. IN AND. Kulakova, G.M. Savelyeva, I.B. Manukhina - M: Gootar Media, 2009. - 1088 p.

Adrenogenital syndrome (AGS) is characterized by a violation of the function of the adrenal cortex, the basis of which is the inferiority of enzyme systems that ensure the production of cortisol. The lack of glucocorticoids reduces their inhibitory effect on the ACTG on the principle of feedback, the level of the latter increases and as a result of this, the hyperplasia of the adrenal cortex with increased products and the allocation of androgens (testosterone, dehypidepiderosterone and Androstendiol) is developing. The frequency of pathology is 1 to 3000-6000 born.

AGS is a genetically deterministic congenital disease. In the nature of the violation of enzyme processes in adrenal glands, five forms of syndrome are distinguished:

The lack of enzyme 21-hydroxylase leads to a partial disruption of the processes of 21-hydroxylation, which contributes to the increased secretion of androgen's adrenalization and the appearance of virilization (viral form);

Defect of 21-hydroxylase - almost the complete absence of 21-hydroxylase disrupts the synthesis 17? - Hydroxiprogesterone, hydrocortisone and aldosterone, which causes not only virization, but also contributes to the loss of salts and the development of addisonism signs (solitary form);

During the lack of 11? - Hydroxylase is formed defect 11? -Hyndroxylation, which leads to the excess formation of mineralocorticoids (doc) and the delay in the body of sodium and water, and all this in addition to virilization causes hypertension (hypertensive form);

The lack of 3-oxidehydrogenase disrupts steroidogenesis processes with the development of acute adrenal insufficiency and with a defect of steroid synthesis from cholesterol (rare lipid form of AGS);

The form of AGS, in which a high fever is observed, due to the high level of etio -olone (rare hypertermic form).

Depending on the period of exposure to androgen, AGS is divided into the following forms: the antenatal (congenital), prepubertal and postpubertate. At the same time, it was established that the relative defect of 21-hydroxylation with age progresses and causes an increase in the activities of adrenal glands on the androgen biosynthesis. This not only explains the pathogenesis of the AGS of the postpubertate period, but also indicates the unity of genesis of pre- and postpubertal forms of the disease. Since biochemical disorders in adrenal glands with congenital and postpubertal AGS are qualitatively the same, then diseases such as female pseudo-heermifroditisism, premature sexual ripening with virization (by heterosexual type), as well as AGS in the postpubertate period, should be considered as illnesses with general genesis, which differ only in The severity of enzyme disorders in the adrenal glands and the time of their manifestation. Despite the indicated enzyme disorders under different forms along the clinical picture and the time of manifestation of AGS, in patients often noted normal products of cortisone and the excretion of the hydrocortisone, which is due to the enhanced adrenal cortex activities under the stimulating effect of the ACTH, which is not able to eliminate even large levels of androgen.

Congenital AGS (simple virilizing form of dysfunction of adrenal cortex) is characterized by virization of genital organs (an increase in the clitoris, the appearance of urogenital sinus), manifested by intrauterine. Pregnancy and childbirth in mothers proceed normally, also without peculiarities there is physical and psychomotor development in children. The newborn features are detected in the structure of external genital organs: a hypertrophored or peniso-shaped clitoris, deepening the thread of the vagina, urogenital sinus, a high crotch, underdevelopment of small and large sex lips. Children with AGS marks the acceleration of growth rates in the first decade (2 times compared with healthy). In 12-15 years, body increase is 5 times less than in healthy girls. This is due to the acceleration of growth processes and ossification due to hormonal disorders. Sometimes at 13-14 years old growth stops without reaching the average. Changes are revealed changes in the structure of bone tissue (rough-eyed, broad-based structure). There is an excessive costh formation due to endosal and peristal osteogenesis, in connection with which bone beams and the cortex bone are thickened. All this indicates the predominance of osteogenesis processes over the resorption of the bone, while in the norm they flow parallel. The physique of girls has a dysplastic look: wide shoulders, narrow pelvis, short limbs with massive tubular bones. Sex ripening begins at 6-7 years and flows through a heterosexual type: Men's secondary sexual signs are developing, the clitoris increases, the low voice timbre is noted, an increase in rigid cartilage and muscle strength. Milk glands and menstrual function are absent. The growth of the uterus is slowed down and its dimensions of 16-18 years are significantly less than the norm. Colpocytologically revealed to 50% of intermediate cells, which indicates estrogenous influences. The level of gonadotropins in the age aspect is increased. Along with the acceleration of somatic development, cerebral structures are activated, as evidenced by the earlier formation of the frequency and rhythm of the electrical activity of the brain. All this is performed under the influence of the increased level of androgen. At the same time, when providing in the ovaries of the basal level of hormones, cyclic maturation of follicles and ovulation is absent. Patients have positive sex chromatin and female karyotype (46 xx), which distinguishes AGS from the virilizing tumor of the adrenal cortex and other forms of hermaphroditism. In hormonal studies, an increase in the excretion of 17-ketosteroids was 6-8 times (4-6 years to 64 mmol / day at a rate of up to 8 mmol / day) and in 16-18 years (175-200 mmol / day and 24-28 mmol / day, respectively), which is reduced to 50% when carrying out prednisone sample.

The soluble form of AGS is characterized by the fact that children in the first days or during the first year of life, along with pseudo-heermafroditism, mineral exchange is disturbed. This is manifested by anxiety, poor appetite, weight loss or slow voltage weight gain, vomiting, dehydration and hypoglycemia phenomena. This form of AGS is due to a deep deficiency of C21-hydroxylase enzymes and a pronounced violation of hydroxylation processes. In this case, there is a lack of adrenal function with a decrease in the excretion of aldosterone and normal products of cortisol or a decrease in the latter with an increase in progesterone and 17-deoxy citizon. Against the background of these hormonal changes, hypoglycemia arise, hypercalemia with dehydration and hypotension.

The more rare, the hypertensive form of AGS develops due to the defect of the C21-hydroxylase enzyme with a violation of cortisol synthesis, corticosterone and aldesterone with an excess of 11-deoxyactisole, 17-ketosteroids and deoxyactorosterone. Against this background, virilization and hypertension are developing. Other forms (lipid, hyperthermic) are very rare.

Adrenogenital syndrome in pre- and puberty periods is characterized by premature sexual ripening with signs of virilization, i.e. Postnatal disease. Men's secondary sexual signs appear to the first menarche. Patients have low growth (150-155 cm), thick short limbs and a narrow pelvis. Menstruation is absent, the dairy glands are undeveloped. The uterus and the ovaries are small. Sex chromatin within the normal range, the karyotype female (46 xx). The diagnosis of this form AGS does not represent difficulties.

It is difficult to diagnose the so-called erased form of AGS. Virive symptoms appear to or immediately after menarche, which comes on time or with some delay. Then develops hymenstrual syndrome or amenorrhea. With the advent of girsutism decrease in the size of the dairy glands. With low growth in patients, virilization of the figure is marked. Due to hyperandrogenia, the closure of bone growth zones is accelerated and the growth of the body is stopped prematurely. The genitals are developed in the female type, sometimes with some clitoris hypertrophy and reduced uterine sizes. In adrenal glands, an increased (1.5-2 times) androgen contents and a sufficient amount of estrogenic compounds are produced. In differential diagnosis, a sample with dexamethasone or ACTH, which reduce the excretion of 17-ks by 50% (and do not affect the adrenal tumors). After the sample with ACTH, the excretion of 17-CC with AGS increases by 2-3 times. Using ultrasound, the small pelvis organs are determined, radiologically - the state of the bone system.

The postpubertate (simple virilizing) form of AGS develops with a small defect C21-hydroxylase adrenal glands and is clinically manifested during puberty from 12-15 years. In childhood, the girl grows normally and develops. The disease is manifested by genetically induced enzyme deficiency of steroidogenesis. Menarche arises on time (in 11-13 years old), immediately manifests the hymenstrual syndrome, then amenorrhea is developing. An androgen type of physique is formed. There are underdevelopment of the dairy glands, a small clitoris hypertrophy and uterine hypoplasia. The ovaries are somewhat increased in sizes, a soft consistency. Hormonal changes are characterized by an increase in the excretion of 17-CC, Androsteron levels, DEA and Testosterone. The number of estrogenic compounds increased due to less active fractions (estrion, estriot). Hyperprolactinemia is often detected.

A simple virilizing form of AGS in a degenerate period (Apert-Galle syndrome) is also caused congenital, but incomplete defect of the adrenal enzyme system. It is characterized by virization of varying degrees with the advent of secondary male genital signs (garisutism, voices, clitoris hypertrophy) and defeminization (hymenstrual syndrome or amenorrhea, mammary atrophy, reduction of the uterus and ovaries, the disappearance of subcutaneous fatty tissue, leveling the roundness of the body contours). Often, only one symptom can be expressed - girsutism. Hidden Corticoid insufficiency arises: reduced performance, headaches, hypotension. Exchange disorders are characterized by obesity, hyperglycemia with glucosuria or the development of diabetes (Asher-Tirsz syndrome). Patients become aggressive, with psychoneurological disorders (depressive states) and severe vegetative symptoms. The disease is often manifested after stressful situations, infections, injuries, i.e. After states causing the maximum tension of the adrenal cortex. In the study, a decrease in the level of cortisone, excretion of metabolites, corticosteroids, germ steroid hormones and an increase in the amount of androgens are noted.

Constitutional (idiopathic) form of hirsutism can manifest itself in puberty or postpubertal periods. It is believed that the disease is more often found in brunettes than that of blondes, as well as in women of oriental type, in general, 10-5% of women. In addition to hirsutism, there are no pathological symptoms. These are actually healthy women with a higher predisposition to any violations (breakdowns) of menstrual and generative functions. They have an increased content of testosterone adrenal genesis. Girsutism is explained by the increased sensitivity of follicles to androgen, even with normal content. More often the disease is manifested by the laws of heredity.

Differential diagnosis should be carried out separately for each form of AGS. The diagnosis is determined by clinical data, the results of hormonal functional studies, ultrasound, laparoscopy and other auxiliary methods. The diagnosis of congenital hyperplasia of adrenal cortex is based on the clitoris hypertrophy with various other anomalies of external genital organs, followed by progressive virization after birth. With a rigging form of congenital AGS, patients die in the early life of life from pylorospasm or pneumonia. The early form of prepubertate AGS is confirmed by heterosexual (with signs of virilization) premature sexual maturation. But there are no violations from the external genital organs. Characterized by the accelerated occurrence of points of ossification. Late AGS in the postpubertal period is differentiated with adrenal tumors and late scleropolikistal ovaries syndrome. In both diseases, an increase in ovaries is noted, but with AGS they are always smaller and a soft consistency than when PCOS, when they are large, dense with a whitish shell. Helps to distinguish these diseases also functional hormonal samples with ACTH, with xG and dexamethasone (on the excretion of 17-CC). In the hyperplasia of the adrenal cortex, the following hormonal changes will be characterized: increasing the number of 17-COP, DEA, Androtandion and etiotholanolane, presenteranol and aldosterone while reducing excretion with urine 11-OKS.

Various forms of AGS should be distinguished from ovarian tumors (Androblastomes), adrenal glands (Androsteromes), virile syndrome of hypothalamic genesis and constitutional girsutism.

Treatment of adrenogeniate syndrome under various forms has much in common, depending on the age and nature of functional and anatomical disorders. With all forms, therapy should be started as early as possible to pronounced virizations, which helps to reduce the level of androgen and normalizing the ovarian function and the entire neuroendocrine system of regulating the reproductive function. Glucocorticoid preparations are used.

Treatment of congenital AGS should begin at an early age before macked and stop the growth of bones. Dose glucocorticoid drugs depends on age: up to 2 years Cortisone is prescribed by 20 mg, prednisone 3 mg, dexamethasone 0.5 mg per day; from 2 to 5 years - 30 mg, 5 mg and 1 mg, respectively; From 5 to 12 years old - 50 mg, 10 and 2 mg, respectively, after 12-14 years in the dose of adults: Cortisone 50-100 mg, prednisone 10-15 mg and dexamethasone 2-4 mg. Doses of preparations may increase or decrease depending on the effectiveness of the therapy, which is determined by clinical data and the level of hormones (17-COP, DEA, testosterone, etc.) in the blood.

Thus, a decrease in 17-ks to 2-5 years of age is noted up to 2-5 mg / day, in 6-12 years - up to 4-6 mg and over 12 years old - up to 7-8 mg / day, as in adults . Clinically under the action of glucocorticoids in early childhood, the normal development of the girl is noted, then the premature ossification of the epiphysear bones is prevented (in 8-9 years) and further growth is continued, the degree of virilization decreases. Subsequently, the growth of the mammary glands and the uterus is noted, the function of the ovaries is normalized and menstruation appear. Later, the beginning of treatment leads to the normalization of the genital organs, but their growth does not increase. Feminization occurs due to the normalization of the pituitary and hormonal function of the ovaries. It is believed that under the influence of glucocorticoid hormones, the opposite development of the hypothalamus on the male type with switching to female occurs. Treatment with hormones in large doses should be carried out within 1-2 years before the appearance of a pronounced effect, then in supporting doses (prednisolone 2.5-5-10 mg) is often throughout life. Termination of treatment leads to a recurrence of the disease.

Operational treatment for the correction of abnormal outer genital organs is aimed at resection or extirpation of the clitoris (up to 5 years), dissection of urogenital sinus and the formation of entering the vagina (up to 10 years).

The treatment of the hydly shape AGS is complemented by using sodium chloride (5-7 g) to food, and sometimes the use of dock (1-3 mg / day).

Due to the decrease in resistance and immune reactivity in the treatment of glucocorticoids in cases of infection or before operations, the dose of drugs increases.

In the treatment of patients with light and moderate forms of AGS in the postpubertal period in the development of hirsutism, amenorrhea and infertility, glucocorticoid therapy is carried out for 3-5 months (prednisone 10-15 mg per day), and then continues in supporting mode (prednisone 2, 5-5 mg). It is possible to intermittent purpose of drugs: glucocorticoids within 10-15 days of the cycle, then progesterone at 5-10 mg 6-8 days for 3-5 months and then supporting therapy. According to the testimony against the background of glucocorticoids, cyclic hormone therapy with steroid hormones (estrogens - gestagens) can be carried out, as well as the use of clomiphene and parlorodel.

Forecast with proper treatment of AGS favorable to restore sexual development, menstrual and generative function. Special treatment constitutional girsutism does not require.