Adrenogenital syndrome in women. Adrenogenital syndrome in children

Adrenogenital syndrome. Etiology, clinic, diagnosis, treatment.

AGS is a consequence of the congenital deficit of enzyme systems involved in the synthesis of steroid hormones of adrenal glands. This genetic defect has a recessive path of inheritance, men and women can be carriers of a defective gene.

The hyperproduction of androgens in the adrenal cortex with congenital AGS is a consequence of a gene mutation, congenital genetically determined by the enzyme system. At the same time, the synthesis of cortisol is disturbed - the main glucocorticoid hormone of the adrenal cortex, the formation of which is reduced. At the same time, according to the principle of feedback, an ACTH formation increases in the front share of the pituitary gland and the synthesis of cortisol predecessors is increasing, of which androgens are formed as a result of the enzyme deficit. In physiological conditions, androgens are synthesized in the female organism in a small amount.

Depending on the nature of the deficit of enzyme aGS systems It is divided into 3 forms, the general symptom of which is virilization.

AGS with salt loss syndrome : The deficiency of s-dehydrogenase leads to a sharp decrease in the formation of cortisol, as a result of which frequent vomiting develops, dehydration of the body with a violation of cardiac activity.

AGS with hypertension : Deficiency 11 (s-hydroxylase leads to the accumulation of corticosterone and, as a result, to the development of hypertension against the background of violation of water and electrolyte metabolism.

AGS Simple Virilizing Form : The deficiency of C21 hydroxylase causes an increase in the formation of androgens and the development of symptoms of hyperandroge-research institutes without a significant reduction in cortisol synthesis. This form of AGS is the most common.

Agcs with loss of salt and hypertension occurs rarely: 1 at 20000-30000 born. Both of these forms are violated not only sexual development, but also the function of cardiovascular, digestive and other organism systems. Symptoms of AGS with loss of salt are manifested in the first hours after birth, and hypertensive form - in the first decade of life. These patients constitute a contingent of common endocrinologists and pediatricians. As for the simple virilizing form of AGS, it is not accompanied by somatic developmental impairment.

The deficiency of C21 hydroxylase, despite the congenital character, can manifest itself in different periods of life; Depending on this, it is distinguished in innocent, puberty and postpubertate forms. With congenital administrative syndrome, the violation of the adrenal function begins intrauterine, almost simultaneously with the beginning of their functioning as an endocrine gland. This form is characterized by virization of outdoor genital organs: an increase in the clitoris (up to a peniso-shaped), the fusion of large sexual lips and the persistence of the urogenital sinus, which is a merge of the lower two-thirds of the vagina and the urethra and opening under the increased clitoris. At the birth of a child, they are often mistaken in determining his floor - a girl with congenital AGS takes for a boy with hypospadic and cryptorchism. It should be noted that even with a pronounced congenital AGS, the ovaries and the uterus are developed correctly, a chromosomal set of female (46 xx), since the intrauterine hyperproduction of androgen begins at that time when the external genital organs have not yet completed sex differentiation.

For this form, AGS is characterized by hyperplasia of adrenal cortex, in which androgens are synthesized. Therefore, its second name is a congenital hyperplasia of adrenal cortex. In the case of pronounced virilization of external genital organs noted at birth, this form is called false feminine hermaphroditism. This is the most frequent in the women's form of hermaphroditism among sexual disorders).

In the first decade of life, girls with a congenital form of AGS develop a picture of premature sexual development for heterosexual type.

At the age of 3-5 years, girls under the influence of continuing hyperandrode develops a picture of the PPR on the male type: the virile hyperitrichosis begins and progresses, the core hair appears on the upper lip and chin, "Bengnebardi" at 8-10 years.

Gyperandrogenation thanks to the pronounced anabolic effects of androgens stimulates the development of muscle and bone tissue, there is a rapid growth of tubular bones in length, the physique, the distribution of muscle and adipose tissues acquires a male type. In girls with congenital AGS by 10-12 years old, the length of the body reaches 150-155 cm, children no longer grow more, because There is a ossification of bone growth zones. The bone age of children at this time corresponds to the 20 years.

Diagnostics.For diagnosis, family history data is used (violation of sexual development in relatives, a combination of low-consumption with infertility, early deceased newborns with the improper structure of genitals). A significant role in diagnostics plays clinical picture Diseases. Predatal diagnosis is possible by determining the concentration of 17-hydroxyprogesterone in amniotic fluid, as well as the detection of the gene mutation.

From laboratory data, you should pay attention to the increase in the excretion of 17-ks with urine, and in the serum - the level of 17-hydroxyprogesterone and ACTH. With a rigging form of AGS, in addition to the changes listed changes, vomiting, dehydration, hypochloremia and hypercalemia are detected.

Differential diagnosis.AGS needs to be differentiated with other forms of early puberty, accelerating growth, nangenism and intersexualism. The solventory form is also differentiated with pyloro-stenosis, inexpensive diabetes, i.e., with diseases that may be accompanied by dehydration. Also with SPKA.

Treatment and prevention.Treatment depends on the form of AGS. With a simple form, glucocorticoids are treated throughout the patient's lifetime. Prednisolone is prescribed in a daily dose of 4 to 10 mg / m 2 of the body in 3-4 reception. Girls have to resort to surgical plastic outdoor genitalia in 3-4 years. IN acute period The soluble form of the disease is shown by salt-substituting solutions (isotonic solution of sodium chloride, Ringer's solution, etc.) and 5-10% glucose solution in a ratio of 1: 1 intravenously drip per day to 150-170 ml per 1 kg of body weight. As a hormonal drug is preferably a hydrocortisone hemisuccinate (solukertef) in a daily dose of 10-15 mg / kg, divided by 4-6 intravenous or intramuscular administrations. In cases of stressful situations (intercourse disease, injury, operation, etc.), the dose of glucocor-thikoids increases 1.5-2 times to avoid the development of acute adrenal insufficiency (hympaudrenal crisis). If the therapy is carried out prednisone, the deoxycorticoste-rone acetate (dox) of 10-15 mg per day is introduced at the same time. In the future, the dose of the dox is reduced, administered in a day or two.

When early and regularly conducting treatment, children are developing normally. With a rigging form of AGS, the forecast is worse, children often die on the 1st year of life.

Adrenogenital syndrome (AGS) It is heavy. It is autosomal-recessive type of inheritance. May meet the same, both in men and women. You can identify most of the forms from the moment of birth. This condition requires compulsory treatment, as it may in a short time cause the development of complications.

Causes of adrenogenital syndrome

As the main reason leading to the development of adrenogenital syndrome is genetic violation, leading to a lack of an enzyme involved in the synthesis of hormones Steroid group carried out in adrenal glands.

Most often this is the lack of a gene located in the short shoulder area related to the sixth chromosome. It is less likely to cause a lack of such an enzyme as 3-beta-é dehydrogenases and 11-beta hydroxylase.

Pathogenesis

The pathogenesis of the disease is complex, it is associated with the fact that the above enzymes reduce cortisol in serum.

Due to the fact that the level of cortisol decreases, the secretion of adrenogenital hormones contributes to the hyperplasia of the zone in the adrenal cortex responsible for the synthesis of androgen.

As a result of the violation of complex biochemical processes occurs:

• cortisol failure.
• compensatory increases adrenocorticotropic hormone.
• the level of aldosterone is reduced.
• there is an increase in such substances as progesterone, 17-hydroxyprogesterone and androgens.

Classification

Among the basic forms of the disease should be allocated:

• Adrenogenital Sound Syndrome. It is the most common form that is diagnosed in childhood from the moment of birth to one year. The disease is characterized by a violation in hormonal balance and deficiency of functional activity in the adrenal cortex. Diagnosis is determined by aldosterone in low values \u200b\u200bfor its norm. Due to it, the water-salt balance is maintained. Therefore, when the work of aldosterone is disturbed of cardio-vascular system and manifests instability in arterial pressure. In the renal lochank, there is significant salts deposition.
• Adrenogenital syndrome in virile form. It is one of the classic pathological processes. Adrenal insufficiency in this case does not develop. Only external genital organs change. He manifests itself immediately from the moment of birth. From side internal organs Violations of the reproductive system is not observed.
• Adrenogenital Syndrome in postpubert. Similar course of the disease is atypical, it can meet sexually active women. As a reason, it is possible to determine not only the presence of mutation, but also tumors in the adrenal crust. The most frequent manifestation is the development of infertility. Sometimes it can be detected with the usual unbearable.

Symptoms of adrenogenital syndrome

The symptoms of the adrenogenital syndrome are quite a lot, they can depend on the predominant form.

Among them should be the main manifestations typical of all forms:

• early children are characterized by high growth and large body weight. Gradually there is a change in appearance. To adolescent period there is a stop in growth, the body weight is exposed to normalization. In adulthood, people suffering from adrenogenital syndrome have low growth and thin body;
• hyperandrode is characterized by large amounts of penis and small testicles in male people. In girls, adrenogenital syndrome is manifested by a peniso-shaped clitoris, having a predominantly male type (see photo above). In addition, girls have signs of hypersexuality and a coarse voice;
• against the background of rapid growth, a pronounced deformation of the musculoskeletal system is observed;
• people are characterized by instability in a mental state;
• in the area of \u200b\u200bthe skin there are sites of hyperpigmentation;
• periodically appears convulsive syndrome.

With a simple form, the adrenogenital syndrome of boys manifests itself:

• increased several times by sexual member;
• the scrotum acquires pronounced hyperpigmentation, as well as the anal area;
• there is a pronounced hypertrichosis;
• already in childhood an erection arises;
• the boy's voice is rough, has a low timbre;
• on skin Covers vulgar acne appear;
• it is a pronounced premature masculinization and accelerated formation of bone tissue.;
• growth can be low enough.

Postpubertal congenital adrenogenital syndrome manifests itself:

• late onset of menstruation;
• the menstrual cycle is characterized by pronounced instability, with disturbed periodicity and durability. There is a tendency to an olignerinea;
• it is noted mainly by male type;
• the skin becomes more fat, the pores in the face of the face are expanding;
• the physique of the threshable, is characterized by the development of wide shoulders and a narrow pelvis;
• the dairy glands have a small size, more often it is only a skin fold with a underdeveloped nipple.

Virive shape:

It is characterized by the fact that the structure of the external genital organs has intersexual signs.

• the clitoris is big sizes, in the head area there is an extension of urethra;
• the size and shape of the germ lip resembles the scrotum;
• in the region of the scrotum and the axillary depression, excessive oversight is determined;
• adrenogenital syndrome in newborns does not always allow identifying sexuality. Girls have a great external similarity with boys. In the field of dairy glasses in the pubertal period, growth is not marked.

Solly shape:

• it is characterized by a child there is a slow increase in mass.
• immediately after birth appears strong vomitre-occupying no appetite, in the area of \u200b\u200bthe belly appear strong pain with the voltage of the anterior abdominal wall, after each feeding, shinking;
• dehydration is developing fairly rapidly, at which sodium is reduced, and potassium increases;
• the child for several days becomes sluggish, ceases to suck normally, consciousness goes into collaptoid up to the fact that a cardiogenic shock is developing and a possible lethal exodus when the assistance has been developed.

Diagnostics

Diagnostics begins with complaints and anamnestic data. These may be changes in the state of the child after birth, disorders reproductive function, Development of the usual misunderstanding.

Mandatory external inspection is carried out with the assessment of the state of all systems. Significant attention should be paid to the figure, growth, and its compliance with age parameters, the inspection of the nature of the agriculture and the bodies of the reproductive system will continue.

Be sure to carry out laboratory and instrumental methods.

Among them:

• general analysis Blood and biochemical study with electrolyte determination. Among them, it is necessary to determine the level of such electrolytes as chlorides, sodium, potassium, etc.
• mandatory is the assessment of the hormonal profile. It is required to determine the level of hormones of the bark of the adrenal glands, estrogen and testosterone, both free and associated:
  • great importance Playing the level of 17-hydroxyprogesterone. For women, the measurement is carried out only during the period of the follicular phase. Eliminate the diagnosis is possible only if its indicator will be below 200 ng / dl;
  • upon exceeding the value, more than 500 ng / for the diagnosis is fully confirmed and additional methods are not always required;
  • if the value is greater than 200, but at the same time less than 500 is necessary for the purpose of diagnosis to conduct a test with ACTH. When conducting an ATG test and obtaining a value above 1000 ng / dL, a diagnosis of adrenogenital syndrome is denied;
  • it is required to estimate the state of urine;
• from instrumental methods is very popular with ultrasound examination of organs.
  • for girls, it is necessary to carry out ultrasound ultrasound and appendages at the time of assessing the function and availability of organic pathology;
  • for boys, it is required to estimate the state of the scrotum organs with ultrasound examination;
  • for individuals of each floor, it is necessary to carry out ultrasound of the scanitoneal space bodies in order to determine the size, structure, the presence of tumor formations in the adrenal area.
• in the event that when ultrasound fails to reveal pathological conditions In adrenal glands, an X-ray of a skull or magnetic resonance imaging of the brain should be detected for the detection of focal tumor formations or hyperplasia of pituitary sections;
• an additional method is an electrocardiography for evaluation. functional state of cardio-vascular system.

Differential diagnosis

The mandatory moment in the diagnosis of adrenogenital syndrome is required to exclude other pathologies.

Among the most similar pathologies are distinguished:

• hermaphroditism. Often, external disorders were differentiated to be combined in the pathology of the internal genital organs;
• adrenal insufficiency. In this case, you need to evaluate additional symptoms and diagnostic methodsBecause they are often similar. But adrenal insufficiency is manifested after provoking factor against the background of preceding health;
• androgenproduction tumor in adrenal glands. A similar state is developing after some time, in childhood it is rarely found pathology;
• pylorostenosis. This is a pathology that has characteristic symptoms with a solitary form.

Treatment of adrenogenital syndrome

The basis of therapy is made up medication toolsshowing replacement properties. These include means from a group of glucocorticosteroids, such as Prednisolone or dexametan.

Prednisolone or dexametan

The latter has fewer side Effects, so it is used mainly for persons children's age. The calculation of the dosage is carried out individually, depending on the level of the hormone. Daily dose You should divide for several techniques, welcomed double welcome with the use of the main part of the substance in the evening. This is due to the fact that at night there is a strengthened hormone production.

If the patient has a solitary form, additionally applies and Fludrocortisut.

Fludrocortisut

In order to normalize the ovarian function, combined oral contraceptiveswhich are able to have an antagandrogen effect.

Special attention is paid to pregnant women. For preventing miscarriage requires a destination Duphastoncontributing to the creation of a favorable hormonal background. Currently, preference is given Uposhee.This dosage form Progesterone can be used up to 32 pregnancy, which makes it possible to prolong the pregnancy until the fetus develops.

Surgery

Operational treatment in this case does not apply. It is possible only to use plastic reconstructive operations aimed at correcting a cosmetic defect in the field of genital organs.

Folk remedies

Folk remedies in the treatment of adrenogenital syndrome do not apply. This is due to the fact that none vegetable Not capable of B. full extent Fill the shortage of hormone.

Prevention

Mer specific prophylaxis It does not exist to prevent adrenogenital syndrome. This is due to the cause of its occurrence.

In order to prevent the birth of a child with this disease, it follows at the stage of conception to consult with the geneticist and determine the degree of risk in the occurrence of syndrome. This is especially important if future parents or close relatives have a similar pathology.

For developing pregnancy, parents, in the family of which there are cases of this pathology, the fruit should be carried out in order to verify the genotype for defects and comply with all pregnancy recommendations.

Complications

The course of the disease largely depends on the form of the process. Solitude form may pose a threat to life. In this case, it is important to diagnose pathology as early as possible and carry out adequate therapy.

People suffering from adrenogenital syndrome increases the risk of development of infertility, both in men and women.

In the event of the development of pregnancy, there is a high risk of unbearable. To preserve the viability of the fetus, it is required to conduct preserving therapy from the first days after fertilization.

Patients with adrenogenital syndrome often suffer from depressive states and other psychological disorders. Among this group of people increased the frequency of suicidal attempts.

Forecast

With timely diagnosis of the form of adrenogenital syndrome, the forecast will be relatively favorable. In many ways, the easier course of pathology is associated with the disease form. It is heavier only a solitary form that requires urgent medical intervention with the appointment of medicines.
That is why it is important to make a diagnosis in a timely manner when the child appears from the child to deteriorate or the presence of signs characteristic of this syndrome.

Videos on the topic

Related records

There are three forms of adrenogenital syndrome: virive, solitary and hypertonic. Symptoms are different.

For virile form Adrenogenital disorder syndrome begin already in the intrauterine period. Due to the excess of androgens, girls suffering from this disease are born with signs of false female hermaphroditism, and boys are with a great sexual member. In children with a virile form of adrenogenital syndrome, the skin of the external genital organs is often hyperpigarmed, around the anal opening and haloes around the nipples. In 2-4 years, such children appear signs of premature puberty - early shatter, low voice, acne. Children with the virile form of adrenogenital syndrome are usually low.

For suffering Solherying form Adrenogenital syndrome is characterized by a "fountain" vomiting, not related to food intake, liquid chair and constantly reduced blood pressure. Because of these manifestations, a water-salt balance is broken after a while, the work of the heart and the child dies.

Hypertensive form Adrenogenital syndrome is rare. In this form, the children also show androgenation, which is accompanied by long-term arterial hypertension. After a while, the disease is complicated by hemorrhage into the brain, impaired heart work, renal failure, impairment of vision.

Description

The main cause of the development of adrenogenital syndrome is the insufficiency of enzymes involved in the synthesis of steroid hormones of adrenal glands. Most often lacking 21-hydroxylase, the gene of this enzyme is located on the short shoulder of the 6th chromosome. However, this syndrome can develop with a deficiency of 11-hydroxylase, 3-beta-ol-dehydrogenases and some other enzymes. It is due to the lack of enzymes in the blood decreases the content of the cortisol (steroid hormone of the adrenal cortex, stimulating protein synthesis) and aldosterone (steroid hormone of the adrenal bark regulating mineral exchange in the body). Due to the low level of cortisol, the secretion of the adrenocorticotropic hormone is increasing, which contributes to the hyperplasia of the adrenal cortex, and it is precisely that its zone in which androgens is synthesized. Because of this, the concentration of androgens in the blood increases, and develops adrenogenital syndrome.

In the case of the virile shape of the adrenogenital syndrome in the body, too many men's sex hormones are simply formed, and, as a result, the child develops masculinization. This is especially noticeable in girls.

However, the soluble form of adrenogeneital syndrome develops more often. This form is associated with low aldosterone concentration in the blood. It is very dangerous, as it can lead to full outcome. Unfortunately, it is she who meets most often. But the hypertensive form develops rarely.

In most cases, adrenogenital syndrome is a congenital pathology. However, it can be acquired. Acquired adrenogenital syndrome develops as a consequence of aldoster - benign or malignant tumor, developing in the mesh zone of adrenal cortex.

Diagnostics

To diagnose "adrenogenital syndrome". It is necessary to undergo a survey of genetics, an obstetrician-gynecologist, urologist-andrologist, dermatovenenerologist, children's cardiologist, endocrinologist and oculist.

It is also necessary to pass tests. It is necessary to determine the level of potassium and sodium and blood chlorides, make blood test for hormones, clinical analysis of blood, biochemical blood test, general urine analysis.

Girls need to hold ultrasound examination of uterus and appendages, boys - ultrasound examination of the scrotum. In addition, it is necessary to do an ultrasound of the barrier space.

Necessarily for proper diagnosis Make an electrocardiogram and magnetic resonance imaging brain.

Differentiate adrenogenital syndrome with adrenal insufficiency, hermaphroditism, androgen-commercial adrenal tumors. The soluble form is differentiated with pylorostenosis.

Treatment

For the treatment of adrenogenital syndrome, the Ministry of Health recommends hormonal drugs. Moreover, the patient must take these drugs.

In some cases, with late diagnosis of adrenogenital syndrome, girls require surgical intervention.

With the soluble form of the disease, it is necessary to use more salts.

Since the adrenogenital syndromes suffering from adrenogenital syndromes, and girls are also often with cosmetic defects, they may need help with a psychologist.

In the case of a virile form with timely diagnosis, proper treatment and, possibly, in surgical intervention, the forecast is favorable.

Patients suffering from adrenogenital syndrome are listed under the supervision of an endocrinologist, as well as a gynecologist or andrologist.

Prevention

As the prevention of adrenogenital syndrome, only medical and genetic counseling is offered.

This pathological form is also known as the congenital hyperplasia of adrenal cortex, or congenital dysfunction of adrenal cortex (as opposed to acquired adrenogenital syndrome, which is usually associated with the presence of tumors of adrenal cortex). In previous years, the congenital hyperplasia of the adrenal cortex was interpreted as pseudo-heermifroditism (virile syndrome) in girls and Macrogenitosomia Praecox (false early puberty) in boys.

Etiology

The etiology of the disease is finally established. Healthy factor confirmed by a disease of several children from one mother; At the same time, apparently, the birth of a child with congenital dysfunction of adrenal cortex depends on the state of the mother. The hereditary factor under this pathology is set to approximately 24% of cases.

Pathogenesis

Numerous studies of violation of the synthesis of steroid hormones in the adrenal cortex in children with congenital adrenogenital syndrome, which were held since 1950, allowed the overall concept of the pathogenesis of this syndrome. As a result of a violation of a number of enzymatic systems that ensure the correct synthesis of adrenal hormones, the production of cortisol (hydrocortisol) is sharply reduced with adrenogeneital syndrome; Due to the reduction in blood levels of the cortisol, the production of the ACTH pituitary was compensatory. And indeed, such patients sometimes find in the blood elevated level ACTG. The constant stimulation of adrenal corticotropin, on the one hand, leads to the hyperplasia of the mesh cortex zone, and on the other - to hyperproduction of men's sex hormones (androgen), the excess of which in the blood determines the virization of the body.

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

The first of the blocks on the synthesis synthesis of corticosteroid hormones was determined at the cholesterol transition stage in Priesganolon. Such a defeat is extremely rare. The formation of all types of hormones is disturbed and the total adrenocortical insufficiency incompatible with life occurs as a result. The baby dies or in the womb of the mother, or immediately after birth. Due to the loss of normal exposure to androgens on the urogenital development of the fetus, the Female type duct system is preserved undifferentiated even with a male genotype. Therefore, the born child with such an enzymatic impairment has external genital organs of female type, and in reality is a male pseudo-eroditis. Highly characteristic feature Such an embodiment of the adrenogenital syndrome is a lipoid hyperplasia of adrenal cortex, ovarian or testicles.

The most common type of perinatal adrenogenital syndrome is the condition caused by the oxidation blockade. In the shortage of the enzyme 21-hydroxydase, the normal formation of 11-deoxycortisole and cortisol from 17alf-hydroxyprogesterone and 11-deoxyticosterone from progesterone (with a deficiency of the formation of also aldosterone) is distinguished. Approximately 2/3 of cases, this block is partial, and then it is enough to form aldosterone to minimize the loss of sodium, and the cortisol formed in small quantities warns serious symptoms of adrenal insufficiency. At the same time, freely synthesized androgens, constantly stimulated by the excess ACTG, cause masculinization. children's body With a significant increase in the penis in boys and the development of false hermaphroditism in girls.

Under the influence of the ACT hyperproduction, progesterone derivatives are sharply formed, of which the most characteristic is the increase in the pregnantine content, which is allocated to the urine per day in the amount of more than 2 mg (the highest norm norm). Approximately 1/3 patients with adrenogenital syndrome, the formation of cortisol and aldosterone is very low, and then a picture of a heavy, soluble type of adrenogeneital syndrome is deployed.

Finally, blocking the enzyme providing 11-hydroxylation, disrupts the synthesis of cortisol and aldosterone. But since it is formed in an excess of 11-deoxyticosterone (the predecessor of aldosterone), which has pronounced mineralocorticoid activity, the electrolyte equilibrium of the body is not disturbed and hypertension develops. Consequently, with this embodiment, the congenital hyperplasia of the adrenal cortex of the phenomenon of masculinization is combined with hypertensive syndrome. It has been proven that with the hypertensive form of adrenogenital syndrome, the adrenal bark secrets also a large number of Connections "S-Reichstein" or 11-deoxyactisole, which is allocated in the urine as a substance "Tetrohydro-S". Pregnatorin in the urine is usually small.

Thus, with overpressure of androgen hormones, due to disruption of cortisol biosynthesis in daily urine, the content of androgens, which are allocated as 17 ketosteroids are increased. The question is not yet clear what exactly an androgen compound or a group of compounds with androgenic activity plays a role in congenital hyperplasia of adrenal cortex.

Congenital adrenogenital syndrome in the girl is 11 months old. and - appearance child, b - clitoris hypertrophy

Symptoms of congenital adrenogenital syndrome

Clinical forms of congenital dysfunction of adrenal cortex. Congenital hyperplasia of adrenal glands can develop in children of both sexes, but she is somewhat more often in girls. At the same time, the syndrome of the loss of salt is more likely to have boys. The clinical division of the adrenital syndrome on the virile (simple), soluble and hypertensive forms proposed by Wilkins received the highest propagation; The first (virile) form is also called compensatory. These forms are clear clinical symptomatics And children manifest themselves in postnatal and prepubertate periods. It should be indicated that the virilization of the body to one degree or another is due to the solitary syndrome and in the presence of hypertension.

Most often encountered a viril form of the disease. Symptoms of the disease in girls usually manifest themselves at birth, less often in the early years of the postnatal period. The boys have a height of a penis and exercise developing on the 2-3rd year of life, which makes it difficult early diagnosis Diseases.

As mentioned above, in girls a simple virile type of adrenogenital syndrome is expressed in the picture of false hermaphroditism. Already from birth, an enlarged clitoris is found, which, gradually increasing, begins to take the kind of male penis. The urinary hole opens, however, at the base of the peniso-shaped clitoris. There may be urogenital sinus. Large intense lips have the kind of split scrotum. Changes in external germ lips are sometimes so pronounced that it is difficult to determine the sex of the child. If this is added to this that the girl already at the age of 3-6 years has excessive exhaust on the pubic, legs, back, accelerates physical developmentThe muscle strength increases and men's architectonics are emphasized, it is not surprising that the child is often taken for a boy with bilateral cryptorchism. Such a transformation female organism In male can only be in the absence of proper treatment. As for the violation of the genitals, then, according to the recommendations of Wilkins, three degrees of these changes should be allocated: I degree developed in the second half of the intrauterine period, there is only a hypertrophic clit, II degree - the end of the first half of pregnancy, in addition to the enlarged clitoris there is a urogenital sinus , III degree - impaired adrenal function occurred in the first months of the intrauterine life of the fetus, the external genital organs are formed on the male type. It means that the earlier in the intrauterine period occurs the hypersection of androgen, the more genitals will be changed. Most often have to deal with III degree Changes in external genital organs.

Naturally, such girls in the future does not occur puberty, the dairy glands do not appear and there are no menstruation.

The boys, as noted, adrenogenital syndrome begins to manifest itself only from 2-3 years. From this time there is a strengthened physical and false sexy ripening of the child. Fast growth, increased development of musculature, increasing penis, excessive overtake, hair appearance on the pubis make such a child like an adult man. Erequently developed boys may appear erection, sometimes a sexual feeling occurs, but if there is a children's psyche. Naturally, such children have testicles in infantile state and are not developing in the future.

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

Several less often congenital adrenogenital syndrome can be combined with a significant impaired electrolyte equilibrium. According to Wilkins classification, it will be an adrenogenital syndrome with salt loss.

Along with the symptom complex of virilism, indicating the hyperproduction of corticosteroids with androgenic activity, such children decrease glucocorticoid and mineralocorticoid functions of adrenal cortex. The origin of violations electrolyte balance With adrenogenital syndrome, it is not quite clarified. Assume the insufficiency (or absence) of the hormone delaying in the body of salt, Aldosterone. Thus, in 1959, Blinds and Wilkins found that with a simple virile form of the disease, the secretion of aldosterone occurs normally; With the soluble form of adrenogeneital syndrome, the level of aldosterone in the blood was lowered. At the same time, Preder and Velasco, in 1956, noted the possibility of secretion of hormone adrenal cortex, increasing sodium release from the body. These hormones seem to differ from aldosterone.

Makrogenitosomy in a boy of 3 years with congenital adrenogenital syndrome.

Thus, the soluble type of adrenogenital syndrome is a typical example of congenital dysfunction of adrenal cortex: on the one hand, enhanced selection in the blood of androgen, on the other - the shortage of cortisol and mineral products.

Symptoms of the soluble syndrome are usually developing in children in the first weeks or in the first year of life. More often this form is found in boys. The course of the disease is severe and is associated with reinforced separation from the body of sodium and chlorides and simultaneous hyperkalemia. Patients develop repeated vomiting, excicosis occurs, weight decreases. The child first irritable, but can quickly fall into the state of prostration: the features of the face sharpen, the skin is grayish-dark, collapse comes and, if energetic treatment is not started, the patient dies. This condition sometimes develops sharply by the type of addictional crisis. In addition, death may come suddenly and without prior collapse. Apparently, in such cases, it is the result of hypercalemia. Even getting appropriate therapy (cortisone, salt), a child with a sliding form of adrenogenital syndrome is not guaranteed from acute development crisis. This is possible, for example, when an intercurrent infection is attached. The introduction of the cortisone in addition to the previously prescribed dose and salt solution quickly levels the patient's condition.

In such cases, pediatricians often assume stenosis of the gatekeeper or acute toxic dyspepsia. Parenteral administration These children of the salt solution temporarily improves the condition of the patient, but without the systematic purpose of the cortisone, a recurrence of the disease occurs. Proper recognition of the nature of the disease is facilitated in cases where the girls simultaneously have a picture of pseudo-chroditism. For boys, the diagnosis is hampered by the fact that they have virilization comes later, and in a somewhat hypertrophied sexual member, the newborn does not pay due attention.

The diagnosis decides the content increased for this age in the urine of 17-ketosteroids. Helps in diagnosis high level In potassium blood plasma and low sodium. The electrocardiogram is often typical of the hypercalemia view.

A third type of adrenogenital syndrome is quite rare - a hypertensive form. It is due to an impaired of 11-C-hydroxylation at the last stage of the synthesis of cortisol with excessive release in the blood of deoxycorticosterone, capable of increasing blood pressure. In these patients, in addition to hypertension, there are all symptoms of virile syndrome. Cortisone therapy contributes to decrease patients arterial pressure.

Thus, adrenogenital syndrome in children is congenital dysfunction of adrenal cortex. For all forms, the deficiency of the formation of hydrocortisone (cortisol) is characteristic. With a rigging form, in addition, the synthesis of mineralocorticoids is disturbed, and with the hypertensive type, the precursor of the aldosterone is reinforced - deoxyacticosterone.

Despite the fact that under congenital dysfunction of the adrenal cortex, the synthesis of cortisol is disturbed, the disorders of carbohydrate exchange are rare. Next is possible hypoglycemia with repeated hypoglycemic crises (without violation of the regulation of electrolytes).

Partial hypocorticism can be expressed in often observed in such patients of skin pigmentation. In addition, in a number of children, even with a compensated form of adrenogenital syndrome under the influence of stress, relative adrenal insufficiency can manifest itself in weaknesses, hypotension, muscle pain. If patients have a violation of the regulation of electrolytes, at least in a hidden form, a typical soluerous crisis occurs under the influence of stress.

It has already been indicated that with congenital hyperplasia of adrenal cortex adrenogenital syndrome can be found only in a postnatal or prepubertal period. This question is still not enough. In such cases, a differential diagnosis should be carried out with acquired adrenogenital syndrome caused by an androgenactive adrenal or ovarian tumor.

Diagnostics

The diagnosis of congenital dysfunction of the adrenal cortex is unemployed when the child has been found at the birth anomalous development External genital organs, girsutism, accelerated physical development. It matters correctly assembled anamnesis: the rapid development of virilization indicates rather for the presence of adrenal cortex tumors, gradual - more characteristic of congenital adrenogenital syndrome. In this regard, the suprarerenographic data with the administration of oxygen through the octopocular tissue can have great help. This way you can explore the adrenal glands at once from two sides.

Of laboratory methods Studies The largest distribution was determined in the daily urine of the content of neutral 17-ketosteroids. With congenital hyperplasia and in tumors of adrenal cortex, as a rule, their number is significantly increased, and in direct accordance with the degree of virilization. In 10-12 years, a daily urine may contain up to 30-80 mg of 17-ketosteroids, which significantly exceeds the age rate (up to 10 mg per day).

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

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

Partial violation of the synthesis of cortisol with adrenogenital syndrome leads to the isolation with the urine, its metabolic products - tetrahydro-derivatives. However, more often there is a smaller disorder of cortisol synthesis, which leads to the release of metabolites of intermediate products of cortisol synthesis - progesterone and 17-oxyprogeometeron. This occurs when there is a violation of 21-hydroxylation, and therefore the diagnosis of congenital adrenogenital syndrome is determined by the definition of progesterone products and 17-oxyprogesterone. Such products are pregnantiol (progesterone metabolite) and pregnantrol and prevention (17-oxyprogesterone metabolites).

All these metabolites appear in the urine in significant quantities already in early stages Diseases, and the presence of them indicates the blockade of 21-hydroxylation. It has been established that pregnantiol, pregnantrol and prevention can accumulate in the urine and when virilizing adrenomes of adrenal glands, which should be considered when differential diagnosis virile syndrome.

As can be seen from the above, it is sometimes difficult to carry out differential. The diagnosis between the tumor of the adrenal cortex and their hyperplasia. This is especially difficult at the late development of virilization. Very facilitates the task of Superrensentygeniography. But the tumor may arise and very early and, moreover, it sometimes has such small sizes, which is not detected on radiographs. Currently important attach the cortisone sample. If the patient with the adrenogenital syndrome is to introduce 50-100 mg of cortisone per day for 5 days (or in the appropriate dose of prednisone, prednisone or dexamethasone), then the selection of 17-ketosteroids per day with the urine of 17-ketosteroids is significantly reduced. If there is a virilizing tumor of the adrenal cortex, the excretion in the urine of 17-ketosteroids does not fall. This indicates that the production of androgens in the adrenal cortex does not depend on the increased secretion in the Blood ACTH. The appointment of cortisone patients with congenital adrenogenital syndrome can also be achieved to reduce the selection with urine and pregnator.

Congenital adrenogenital syndrome should be differentiated with all kinds of premature sexual development: cerebral-pituitary, ovarian or testicular genesis. Premature sexual ripening of a constitutional type or depection from the lesion of the intermediate-pituitary area will always be true, isosexual type. Increased content in the urine of 17-ketosteroids moderate and never exceeds the adolescent level. In the urine, the increased content of gonadotropins is found. The testicles in boys increase to the size of adults, while with the adrenogenital syndrome they are underdeveloped. In doubtful cases, biopsy of the testicles is of great importance. With adrenogenital syndrome, unripe channels are found and the absence of leildig cells, and with other types of early sexual development - a large number of leildig cells and spermatogenesis. Premature sexual ripening in boys occasionally is associated with the presence of an interstitial cell tumor egg. In these cases, there is a one-sided increase in the sizes of the egg; with palpation it is a dense and bug, The second egg may be hypoplasized. Biopsy followed by hystology of tescular tissue solves the diagnosis.

In girls, premature sexual development is extremely rarely caused by the ovarian granular tumor. However, this tumor is estrogenative and premature sexual development occurs on the female type (with adrenogenital syndrome - on male). Arrenoblastoma is an ovarian tumor - with androgenic activity, girls practically does not occur.

Treatment of congenital adrenogenital syndrome

Currently firmly established that the most rational therapy Congenital dysfunction (hyperplasia) of the adrenal cortex is the purpose of the patient of corticosteroidal preparations (cortisone and its derivatives). This is in the full sense is replacement therapySince the congenital adrenogenital syndrome is based on the shortage of cortisol products (hydrocortisone) and mineralocorticoids. In this case, treatment and dependence on the shape of the disease is carried out differential.

With a simple (virile) form, cortisone syndrome (prednisone or prednisone) significantly reduces the selection with urine of 17-ketosteroids and biologically active androgen. In this case, the suppression process may unlimited, long supported by relatively low doses of the drug that do not have a negative effect on exchange.

Treatment is starting with relatively large doses of cortisone or its derivatives (the so-called shock therapy), which can suppress the androgenic function of adrenal glands. The degree of suppression of the adrenal function is determined by the daily excretion of 17-ketosteroids and pregnantric. In this way, it is possible to reduce the level of excretion of 17-ketosteroids in children of early age to 1.1 mg per day, in the older children "age - up to 3-4 mg per day. The duration of" shock doses "of corticosteroids is from 10 to 30 days. Preferably intramuscularly Introducing cortisone acetate at 10-25 mg per day for breast-age children, 25-50 mg children of 1-8 years and 50-100 mg per day teenagers.

Courtesis can be assigned (and its derivatives in the respective doses) and inside.

After reaching a certain effect, go to long-term supportive therapy, and the desired dosage Corticosteroid is installed in terms of excretion in the urine of 17-ketosteroids. Cortisone is prescribed and intramuscularly (for example, 2-3 times a week half of the "shock dose") or inward (fractionally equal doses in an amount of approximately half the daily amount of the preparation administered intramuscularly). Presenice or prednisone has an advantage over the cortisone, since they are more actively oppressed by the ACTG of the anteriority of the pituitary gland and, in addition, a little delay salt in the body. For supporting therapy, the dose of these drugs in 10-20 mg per day is inhibited from the urine of 17-ketosteroids for a long time.

With a solitary syndrome, which often occurs in children with congenital hyperplasia adrenal cortex under 4-5 years old, urgent introduction is required crash salt, cortisone and deoxykorticosterone (dock), and doses are prescribed in accordance with the acute disease. With acute loss of salt (flowing in the type of addisonic crisis), the hydrocortisone and 0.5-1 mg (kg) per day, and 0.5-1 mg (kg) per day, the solution of glucose is injected at the rate of 5 mg (kg) per day (5%) of glucose 1000 ml with the addition of a 20% solution of the table salt by 1 kg of body weight. The rate of administration is 100 ml of fluid per hour. With the gradual development of the syndrome, 5 mg of cortisone per 1 kg of weight can be recommended. If necessary, the dock is added 2 mg per day with a gradual increase in the dose of the drug. A good effect is provided by subcutaneous crystals (100-125 mg) doc, which is very slowly absorbed into the blood and maintains an electrolyte equilibrium of the body. With hypertensive forms of the disease, a patient and other hormones, reinforcing sodium and water delays should not be given. A good effect is achieved from the use of cortisone or prednisone. It is necessary to indicate that if patients are ill, or exposed to surgical intervention, the doses of hormones are recommended to increase, which is especially important in the soluble forms of adrenogeneital syndrome.

We present 2 cases of congenital dysfunction of adrenal cortex: the girl is 6 years old with a picture of false hermaphroditism and a boy of 5 years with Macrogenitosomia Praecos.

First case:

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

Valya P., 6 years old, entered children's office Institute of Experimental Endocrinology and Chemistry of Hormones of AMN 26 / XII 1964 in a child, an improper structure of the genital organs, premature exhaustion in the pubic area. The girl was born at home from the second normally proceeding pregnancy. At. birth weight is normal, the clitoris is slightly increased. The girl began to walk from 18 months; Since 3 years old marked fast growth.

Upon receipt of 131 cm growth, weight 25 kg of 700 g. On the skin there are aspai vulgaris. On the pubis - severe masculine sample. There are no changes in the structure of the skeleton. Heart - without features, pulse 92 impact per minute, good filling, heart tones clear. Arterial pressure 110/65 mm. Changes in the internal organs are not detected. Peniso-shaped clitoris, 3 cm long, erygated. The urethra opens to the urogenital sinus at the root of the clitoris. There are Labioruni Scrotulae, in the thickness of which the tests are not defined. Rectally tested the uterus with a lentil size. Tumors in a small pelvis is not determined.

Data x-ray research: The shape and magnitude of the Turkish saddle are not changed, the bone age corresponds to 12 years.

After the sample with the cortisone introduced intramuscularly for 7 days, the daily amount of 17-ketosteroids decreased to 5.5 mg, dehydroepiythrosterone - up to 0.4 mg, 17-hydroxycorticosteroids - up to 26.6 mg.

The patient was assigned prednisolone but 5 mg 2 times a day and a hormonal profile was again investigated. The daily amount of 17 ketosteroids was 2.4 mg, 17-oxycorticosteroids - 3-2 mg, pregnandiol-1.7 mg, pregnantol - 2.2 mg, dehydroepyondrosterone - 0.7 mg.

The girl was discharged on February 15, 1965. Prescribed constantly take prednisone at 5 mg 2 times a day under control general status, weight, blood pressure, content of 17-ketosteroids in the urine

Diagnosis: congenital dysfunction of adrenal cortex (adrenogeneital syndrome), simple virile form.

Second case:
Vova R., 5 and a half years, received 16 / XII 1964 in the Children's Department of the Institute of Experimental Endocrinology and Chemistry of AMN Hormones with complaints of accelerated physical and sexual development. The boy was born large - the weight of 4550 g. Up to 4 years, the child developed normally, but in growth was ahead of his peers, at the age of 5 years the mother drew attention to the increase in the genitals; Soon after, there was an exhaust on the pubis, the growth was significantly accelerated. Over the past year grew by 15 cm.

Upon admission height of 129.5 cm, which corresponds to the growth of the 9-year-old boy, the weight of 26 kg of 850. The right physique. Arterial pressure 105/55 mm. Sexual member is large, there is a unaware of the pubis. Sex glands in the scrotum. Left testicle size with walnut, Right - with cherry. Differentiation of the bones of the brush corresponds to 12 years.

The selection with the urine per day of 17-ketosteroids reached 26.1 mg, 17-hydroxycorticosteroids - 2.4 mg, dehydroepyondrosterone - 1 mg.

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

On the basis of research, a diagnosis of congenital dysfunction of adrenal cortex was diagnosed and treatment was prescribed prednisolone. In the treatment of prednisolone, 17-ketosteroids decreased to 7 mg per day. The boy is discharged with a recommendation to take prednisone at 5 mg 1 time per day under the control of weight, growth, blood pressure and hormonal profile. Repeated consultation in 4 months.

To the attention of parents! On our site is open forum about adrenogenital syndrome.

For the primary and secondary sexual signs correspond to hormones, some of which are produced in adrenal glands. Exists congenital diseasecharacterized by dysfunction of these glands of internal secretion and excessive excretion of androgen. An excess of male genital hormones in the body leads to significant changes in the structure of the body.

Adrenogenital syndrome - reasons

The considered pathology arises due to congenital genetic mutation transmitted by inheritance. It is rarely diagnosed, the frequency of occurrence of adrenogenital syndrome is 1 case by 5000-6500. Change genetic code It provokes an increase in the size and deterioration of the work of the adrenal cortex. Development of special enzymes that are involved in the production of cortisol and aldosterone is reduced. Their deficiency leads to an increase in the concentration of male genital hormones.

Adrenogenital Syndrome - Classification

Depending on the degree of expansion of the adrenal crust and the severity of the symptoms, the described disease exists in several variations. Forms of adrenogenital syndrome:

• sollying;
• virile (simple);
• postpubertate (non-classical, atypical).

Adrenogenital Syndrome - Solherying Form

The most common type of pathology, which is diagnosed with newborns or children of the first year of life. In the rigging form of adrenogenital syndrome, a violation of hormonal balance is characterized by a hormone balance and lack of adrenal cortex function. This type of disease is accompanied by too low aldosterone concentration. It is necessary to maintain a water salt balance in the body. Specified adrenogenital syndrome provokes a violation of cardiac activity and blood pressure. This happens against the background of the accumulation of the salts in the kidneys.

Adrenogenital syndrome - virile form

A simple or classic variant of the pathology is not accompanied by adrenal insufficiency phenomena. The described adrenogenital syndrome (AGS of the virile form) leads only to changes in external genital organs. This type of disease is also diagnosed in early age or immediately after childbirth. Inside reproductive system It remains normal.

The type of disease is also called atypical, acquired and non-classical. Such an adrenogenital syndrome is found only in women who lead active sex life. The cause of the development of pathology can be both congenital mutation of genes and. This disease Often accompanied by infertility, therefore, without adequate therapy, adrenogenital syndrome and pregnancy are incompatible concepts. Even when successful conception high risk of unbearable, the fruit digested on early timing (7-10 weeks).

Adrenogenital syndrome - symptoms

The clinical picture of the described genetic anomaly corresponds to the age and form of the disease. Adrenogenital syndrome in newborns can not be determined sometimes, because of which the infant floor can be identified incorrectly. Specific signs of pathology become noticeable from 2-4 years, in some cases it appears later, in adolescent period or maturity.

Adrenogenital syndrome in boys

With the soluble form of the disease, symptoms of disorders of the water-salt balance are observed:

• diarrhea;
• severe vomiting;
• reduced blood pressure;
• convulsions;
• tachycardia;
• weight loss.

A simple adrenogenital syndrome in male children has the following signs:

• enlarged penis;
• excess pigmentation of the scrotum skin;
• dark epidermis around the anus.

Newborn boys rarely put the specified diagnosis, because the clinical picture at an early age is weakly expressed. Later (from 2 years), adrenogenital syndrome is more noticeable:

• hair growth on the body, including genital organs;
• low, rude voice;
• (vulgar acne);
• masculinization;
• acceleration of bone formation;
• littleness.

To determine the disease under consideration among female babies is easier, it is accompanied by such symptoms:

• hypertrophied clit, externally very similar to penis;
• large sex lips, look like scrotum;
• vagina and urethra are combined into urogenital sinus.

Against the background of the presented signs of newborn girls, they are sometimes taken for boys and are brought up in accordance with the incorrectly installed floor. Because of this, in school or adolescence, psychological problems often appear in such children. Inside the reproductive system, the girl fully corresponds to the female genotype, so it feels like a woman. The child begins internal contradictions and difficulties with adaptation in society.

After 2 years, congenital adrenogenital syndrome is characterized by the following features:

• premature hair growth on the pubic and armpits;
• short legs and hands;
• muscularity;
• hair appearance on the face (by 8 years);
• male physique (wide shoulders, narrow pelvis);
• lack of growth of mammary glands;
• low growth and massive torso;
• rough voice;
• acne;
• later the beginning of menstruation (not earlier than 15-16 years);
• unstable cycle, frequent monthly delays;
• or oligomenorrhea;
• infertility;
• blood pressure jumps;
• excessive pigmentation of the epidermis.

Adrenogenital syndrome - diagnostics

To identify hyperplasia and dysfunction of adrenal cortex help instrumental and laboratory studies. To diagnose the adrenogenital congenital syndrome in babies, a thorough inspection of genitals and cT scan (or ultrasound). Hardware examination It makes it possible to detect ovaries and the uterus in girls with male genital organs.

To confirm the alleged diagnosis is carried out laboratory analysis on adrenogenital syndrome. It includes the study of urine and blood for the content of hormones:

• 17-he-progesterone;
• aldosterone;
• cortisol;
• 17-ketosteroids.

Additionally assigned:

• clinical analysis blood;
• general Study urine.

Treatment of adrenogenital syndrome

It is impossible to get rid of the discussed genetic pathology, but its clinical manifestations can be eliminated. Adrenogenital syndrome - Clinical recommendations:

1. Lifetime receiving hormonal drugs. To normalize the work of the adrenal cortex and the control of the endocrine balance will have to constantly drink glucocorticoids. Preferred option - dexamethasone. The dosage is calculated individually and ranges from 0.05 to 0.25 mg per day. With a solitary form of the disease, it is important to take mineralcorticoids to support the water-salt balance.
2. Correction of appearance. Patients with the described diagnosis are recommended by plastic vagina, cluthectomy and other surgical interventions that ensure the impartial organs of the correct form and the appropriate size.
3. Regular consultations with a psychologist (on demand). Some patients need help in social adaptation and taking themselves as a full-fledged person.
4. Stimulation of ovulation. Women wishing to get pregnant, you need to go through the course special medicinesproviding adjustment menstrual cycle and suppressing androgen production. Glucocorticoids are accepted by the entire period of tooling.