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Adrenogenital syndrome: a disease in newborns

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

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

Adrenogenital syndrome - what is it?

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

The pathology is congenital (hereditary) in nature and is accompanied by a disorder in the processes of hormone synthesis in the adrenal cortex. In this case, an excessive amount of androgen, the male sex hormone, is produced. As a result of this process, virilization is observed (the appearance or exacerbation of masculine traits in both men and women).

What are the causes and pathogenesis of adrenogenital syndrome?

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

If only the father or mother of the child has the disease, this disorder will not be inherited by the baby.
When two parents have the mutation, the chance of it occurring in the newborn is up to 25 percent.
If one of the parents suffers from a hormonal disorder, and the other turns out to be a carrier of a gene mutation, the risk of detecting pathology in the unborn child increases to 75 percent.

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

Androgen hormone

Main forms of adrenogenital syndrome

There are several forms of congenital AGS, with different symptoms:

Virilnaya. Disruptions in the body occur already at the intrauterine stage. Due to excessive secretion of the hormone in adrenogenital syndrome, features of false hermaphroditism (masculinization) are observed in newborn girls, and in boys - an oversized penis. Children with the viril form of AGS often have overly pigmented skin of the external genitalia, nipples, and anus. At the age of 2 to 4 years, they express the properties of precocious puberty (acne, low timbre of voice, hair growth), often such children have short stature.
Salt-wasting. Caused by a lack of aldosterone, expressed in the form of gushing vomiting, unrelated to food intake, a prolonged decrease in the level blood pressure, diarrhea in a child, seizures. The salt-wasting form of adrenogenital syndrome is characterized by water-salt imbalance and serious malfunctions of cardio-vascular system. This form is the most common and is very dangerous because it threatens the life of the patient.
Hypertensive. Rarely encountered, it is characterized by a prolonged increase in blood pressure. Over time, complications of hypertensive AGS occur ( cerebral hemorrhage, cardiovascular system disorders, decreased vision, renal failure).

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

Hypertensive form of adrenogenital syndrome

Symptoms of adrenogenital syndrome

Above we have listed the symptoms characteristic of different forms hereditary AGS. It is necessary to streamline what has been said, and also to add to the list of indicated characteristics.

The simple type of viril form of pathology is characterized by general symptoms:

in the baby - vomiting, sluggish sucking, metabolic disorders, dehydration, high weight and growth immediately after birth;
“male” physique (short limbs, broad shoulders, large torso);
persistently high blood pressure;
possible infertility.

In female children, adrenogenital syndrome has the following manifestations:

early puberty (at the age of 6-7 years) in the absence of breasts;
hair growth (body, face, perineum, abdomen, legs, chest and back);
lowering the timbre of the voice;
underdevelopment of the genital organs;
the onset of menstruation no earlier than 14-16 years, their irregularity (delays);
a large number of acne, porous and oily skin of the face, back;
short stature, “masculine” type figure.

Symptoms of adrenogenital syndrome

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

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

The postpubertal or non-classical (acquired) form of AGS is characterized by the following symptoms:

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

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

How is adrenogenital syndrome diagnosed?

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

geneticist;
obstetrician-gynecologist or urologist-andrologist;

You need to be examined by an endocrinologist

dermatovenerologist;
endocrinologist;
pediatric cardiologist;
ophthalmologist

The doctor collects anamnesis regarding the disease and analyzes the patient’s complaints. He examines a potential patient to detect primary physical abnormalities indicating AGS.

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

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

Ultrasound ( ultrasonography) genitals;
Ultrasound of the pelvis;

Pelvic ultrasound

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

How is adrenogenital syndrome treated?

Features of the fight against this defect are as follows:

Doctors recommend treatment for AHS using hormonal drugs, which ensure balanced synthesis of hormones by the adrenal cortex (hydrocortisone tablets - for children). The treatment course lasts throughout life.
Patients are under lifelong observation by a gynecologist and endocrinologist.
Sometimes (in case of late diagnosis) girls need surgical intervention(genital correction).
If you have salt-wasting AGS, you should increase the amount of salt and other trace elements you consume. Diet is required.
Short stature and cosmetic flaws may cause the patient to need psychological help.
In the case of a post-pubertal form of the defect, therapy is needed only if cosmetic or reproductive problems arise.

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

Prevention of adrenogenital syndrome

As preventive measures Doctors advise resorting to:

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

Results

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

If you are planning to have children, you should carefully monitor your own health indicators. You should definitely consult your doctor.

Adrenogenital syndrome. Etiology, clinical picture, diagnosis, treatment.

AGS is a consequence of congenital deficiency of enzyme systems involved in the synthesis of adrenal steroid hormones. This genetic defect has a recessive mode of inheritance; both men and women can be carriers of the defective gene.

Hyperproduction of androgens in the adrenal cortex in congenital AGS is a consequence of a gene mutation, a congenital genetically determined deficiency of the enzyme system. In this case, the synthesis of cortisol, the main glucocorticoid hormone of the adrenal cortex, is disrupted, the formation of which decreases. Moreover, according to the principle feedback The formation of ACTH in the anterior lobe of the pituitary gland increases and the synthesis of cortisol precursors increases, from which androgens are formed due to enzyme deficiency. Under physiological conditions, androgens are synthesized in the female body in small quantities.

Depending on the nature of the deficiency of enzyme systems, AGS is divided into 3 forms, common symptom which is virilization.

AGS with salt wasting syndrome : deficiency of ZR dehydrogenase leads to a sharp decrease in the formation of cortisol, resulting in frequent vomiting, dehydration with impaired cardiac activity.

AGS with hypertension : deficiency of 11 (3-hydroxylase) leads to the accumulation of corticosterone and, as a consequence, to the development of hypertension against the background of impaired water and electrolyte metabolism.

AGS simple virilizing form : C21-hydroxylase deficiency causes an increase in the formation of androgens and the development of symptoms of hyperandrogenism without a significant decrease in cortisol synthesis. This form of AGS is the most common.

AGS with salt loss and hypertension is rare: 1 in 20,000-30,000 births. Both of these forms disrupt not only sexual development, but also the function of the cardiovascular, digestive and other body systems. Symptoms of AGS with salt loss appear in the first hours after birth, and the hypertensive form - in the first decade of life. These patients make up the contingent of general endocrinologists and pediatricians. As for the simple virilizing form of AGS, it is not accompanied by somatic developmental disorders.

C21-hydroxylase deficiency, despite its congenital nature, can manifest itself at different periods of life; Depending on this, congenital, pubertal and postpubertal forms are distinguished. With congenital adrenogenital syndrome, dysfunction of the adrenal glands begins in utero, almost simultaneously with the beginning of their functioning as an endocrine gland. This form is characterized by virilization of the external genitalia: enlargement of the clitoris (up to penis-shaped), fusion of the labia majora and persistence of the urogenital sinus, which is the fusion of the lower two-thirds of the vagina and urethra and opens under the enlarged clitoris. At the birth of a child, mistakes are often made in determining its gender - a girl with congenital AGS is mistaken for a boy with hypospadias and cryptorchidism. It should be noted that even with pronounced congenital AGS, the ovaries and uterus are developed correctly, the chromosome set is female (46 XX), since intrauterine hyperproduction of androgens begins in the period when the external genitalia have not yet completed sexual differentiation.

This form of AGS is characterized by hyperplasia of the adrenal cortex, in which androgens are synthesized. Therefore, its second name is congenital adrenal hyperplasia. In the case of pronounced virilization of the external genitalia, noted at birth, this form is called false female hermaphroditism. This is the most common form of hermaphroditism among sexual differentiation disorders in women).

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

At the age of 3-5 years, girls, under the influence of ongoing hyperandrogenism, develop a picture of male-type PPR: virile hypertrichosis begins and progresses; at 8-10 years, shaft hair appears on the upper lip and chin, and “sideburns.”

Hyperandrogenism, due to the pronounced anabolic effect of androgens, stimulates the development of muscle and bone tissue, rapid growth of tubular bones in length occurs, the physique, distribution of muscle and fat tissue takes on a male type. In girls with congenital AHS, by the age of 10-12 years the body length reaches 150-155 cm; children no longer grow any more, because ossification of bone growth zones occurs. The bone age of children at this time corresponds to 20 years.

Diagnostics. For diagnosis, family history data are used (disorders of sexual development in relatives, a combination of short stature with infertility, prematurely deceased newborns with abnormal genital structure). The clinical picture of the disease plays a significant role in diagnosis. Prenatal diagnosis is possible by determining the concentration of 17-hydroxyprogesterone in the amniotic fluid, as well as identifying gene mutations.

From laboratory data, attention should be paid to an increase in the excretion of 17-KS in the urine, and in the blood serum - the level of 17-hydroxyprogesterone and ACTH. In the salt-wasting form of AGS, in addition to the listed changes, vomiting, dehydration, hypochloremia and hyperkalemia are detected.

Differential diagnosis. AGS must be differentiated from other forms of early puberty, accelerated growth, dwarfism and intersexism. The salt-wasting form is also differentiated with pyloric stenosis, diabetes insipidus, i.e., with diseases that may be accompanied by dehydration. Also with PCOS.

Treatment and prevention. Treatment depends on the form of AGS. In the simple form, treatment with glucocorticoids is carried out throughout the patient’s life. Prednisolone is prescribed in a daily dose of 4 to 10 mg/m2 body in 3-4 doses. Girls have to resort to surgical plastic surgery of the external genitalia at 3-4 years of age. IN acute period In the salt-wasting form of the disease, salt-substituting solutions (isotonic sodium chloride solution, Ringer's solution, etc.) and 5-10% glucose solution in a 1:1 ratio are indicated intravenously per day up to 150-170 ml per 1 kg of body weight. As a hormonal drug, hydrocortisone hemisuccinate (Solucortef) is preferable in a daily dose of 10-15 mg/kg, divided into 4-6 intravenous or intramuscular injections. In cases of stressful situations (intercurrent illness, injury, surgery, etc.), the dose of glucocorticoids is increased by 1.5-2 times in order to avoid the development of acute adrenal insufficiency (hypoadrenal crisis). If therapy is carried out with prednisolone, then deoxycorticosterone acetate (DOXA) is simultaneously administered intramuscularly at 10-15 mg per day. Subsequently, the dose of DOX is reduced and administered every other day or two.

With early and regular treatment, children develop normally. With the salt-wasting form of AGS, the prognosis is worse; children often die in the 1st year of life.

Adrenogenital syndrome (AGS) is a hereditary fermentopathy with congenital hyperplasia of the adrenal cortex. The pathology is based on a genetically determined disruption of the steroidogenesis process. AGS is characterized by hypersecretion of androgens by the adrenal glands, suppression of the production of gonadotropic hormones and glucocorticoids, and impaired folliculogenesis.

In official medicine, AGS is called Apère-Gamay syndrome. He's different hormonal imbalance in organism: excess levels of androgens in the blood And insufficient amounts of cortisol and aldosterone. The consequences of the disease are most dangerous for newborns. Their body becomes full of androgens and low in estrogen - male and female sex hormones.

First Clinical signs diseases appear in children immediately after birth. In some, extremely in rare cases, AGS is detected in individuals aged 20-30 years. The prevalence of the syndrome varies significantly among ethnic groups: it is highest among Jews, Eskimos, and Caucasians.

A little anatomy

Adrenal glands - paired endocrine glands, located above top part human kidney. This organ ensures the coordinated functioning of all body systems and regulates metabolism. The adrenal glands, together with the hypothalamic-pituitary system, provide hormonal regulation vital functions of the body.

The adrenal glands are located in the retroperitoneum and consist of an outer cortex and an inner medulla. Cells of the cortex secrete glucocorticosteroid and sex hormones. Corticosteroid hormones regulate metabolism and energy, provide the body’s immune defense, tone vascular wall, help adapt to stress. The medulla produces catecholamines, biologically active substances.

Cortisol is a hormone from the group of glucocorticosteroids secreted by the outer layer of the adrenal glands. Cortisol regulates carbohydrate metabolism and blood pressure, protects the body from the influence stressful situations, has a slight anti-inflammatory effect and increases the level of immune defense.

Aldosterone is the main mineralocorticoid produced by the glandular cells of the adrenal cortex and regulates water-salt metabolism in the body. He deduces excess water and sodium from tissues into the intracellular space, prevents the formation of edema. By acting on kidney cells, aldosterone can increase circulating blood volume and increase blood pressure.

Classification

There are 3 clinical forms of AGS, which are based on varying degrees of 21-hydroxylase deficiency:

21-hydroxylase

Etiopathogenesis

AGS occurs in individuals with congenital deficiency of the enzyme C21-hydroxylase. In order for its quantity in the body to be maintained at an optimal level, a full-fledged gene is required, localized in the autosomes of the 6th chromosome. A mutation of this gene leads to the development of pathology - an increase in size and deterioration in the functioning of the adrenal cortex.

The syndrome is inherited in an autosomal recessive manner - from both parents at once. In a carrier of one mutant gene, the syndrome does not manifest itself clinically. Manifestation of the disease is possible only in the presence of defective genes in both autosomes of the 6th pair.

Patterns of hereditary transmission of adrenogenital syndrome:

Children born to healthy parents who are carriers of the mutant gene may inherit adrenal hyperplasia.
Children born to a healthy mother from a sick father are healthy carriers of the disease.
Children born to a healthy mother from a father who is a carrier of the mutation will suffer from AGS in 50% of cases, and in 50% will remain healthy carriers of the affected gene.
Children born from sick parents will inherit this disease in 100% of cases.

In extremely rare cases, adrenogenital syndrome is inherited sporadically. The sudden onset of pathology is due to negative impact on the process of formation of female or male germ cells. In extremely rare cases, sick children are born to completely healthy parents. The cause of such anomalies can be neoplasms of the adrenal glands and hyperplastic processes in the glands.

Pathogenetic links of AGS:

defect of the gene encoding the enzyme 21-hydroxylase,
lack of this enzyme in the blood,
disruption of the biosynthesis of cortisol and aldosterone,
activation of the hypothalamic-pituitary-adrenal system,
hyperproduction of ACTH,
active stimulation of the adrenal cortex,
increase in the cortical layer due to the proliferation of cellular elements,
accumulation of cortisol precursor in the blood,
hypersecretion of adrenal androgens,
female pseudohermaphroditism,
precocious puberty syndrome in boys.

Risk factors that activate the pathology mechanism:

taking strong drugs,
increased level ionizing radiation,
long-term use of hormonal contraceptives,
injuries,
intercurrent diseases,
stress,
surgical interventions.

The causes of AGS are exclusively hereditary in nature, despite the influence of provoking factors.

Symptoms

Main symptoms of AGS:

Sick children at an early age are tall and have a large body weight. As the child's body their appearance is changing. By the age of 12, growth stops and body weight returns to normal. Adults are short and thin in build.
Signs of hyperandrogenism: a large penis and small testicles in boys, a penis-shaped clitoris and hair growth male type in girls, presence of other masculine characteristics in girls, hypersexuality, rough voice.
Rapid growth with deformation of bone tissue.
Unstable mental state.
Persistent arterial hypertension in children, dyspepsia is a nonspecific symptom present in many diseases.
Hyperpigmentation of the child's skin.
Periodic convulsions.

The salt-wasting form is characterized by a severe course and is rare. The disease manifests itself:

The salt-wasting form is characterized by hyperkalemia, hyponatremia, and hypochloremia.

The simple form of AGS in boys aged 2 years is manifested:

The post-pubertal form manifests itself in teenage girls:

late menarche,
unstable menstrual cycle with irregular frequency and duration,
oligomenorrhea,
hair growth in atypical places,
oily skin on the face,
enlarged and enlarged pores,
masculine physique,
micromastia.

Abortions, miscarriages, and undeveloped pregnancies can provoke the development of this form of AGS.
In girls, the classic virile form of AGS is manifested by the intersex structure of the external genitalia: a large clitoris and extension of the urethral opening onto its head. The labia majora resemble the scrotum, in armpits and pubic hair begins to grow early, skeletal muscles develop quickly. Pronounced AGS does not always make it possible to determine the sex of the newborn. Sick girls look very similar to boys. Their mammary glands do not grow, menstruation is absent or becomes irregular.

Children with AGS are monitored by pediatric endocrinologists. Using modern therapeutic techniques, specialists provide medication and surgery syndrome, which allows the child’s body to develop correctly in the future.

AGS is not fatal dangerous illness, although some of its symptoms psychologically depress patients, which often ends in depression or a nervous breakdown. Timely detection of pathology in newborns allows sick children to adapt to society over time. When the disease is detected in school-age children, the situation often gets out of control.

Diagnostic measures

Diagnosis of AGS is based on anamnestic and phenotypic data, as well as the results hormonal research. During general examination assess the patient's figure, height, condition of the genital organs, and degree of hair growth.

Laboratory diagnostics:

Hemogram and blood biochemistry.
Study chromosome set- karyotype.
Studying hormonal status by using enzyme immunoassay, which shows the content of corticosteroids and ACTH in the blood serum.
Radioimmunoassay determines the quantitative content of cortisol in the blood and urine.
In doubtful cases, a correct diagnosis can be made using molecular genetic analysis.

Instrumental diagnostics:

Radiography of the wrist joints allows us to establish that the bone age of patients is ahead of the passport age.
An ultrasound reveals the uterus and ovaries in girls. Ultrasound of the ovaries has important diagnostic value. Patients are found to have multifollicular ovaries.
A tomographic examination of the adrenal glands allows one to exclude a tumor process and determine the existing pathology. With AGS, the paired gland is noticeably increased in size, while its shape is completely preserved.
Radionuclide scanning and angiography are auxiliary diagnostic methods.
Aspiration puncture and histological examination of the punctate with the study of cellular composition are performed in especially severe and advanced cases.

Neonatal screening is carried out on the 4th day after the birth of the child. A drop of blood is taken from the newborn's heel and applied to a test strip. The further tactics of managing a sick child depend on the results obtained.

Treatment

AHS requires lifelong hormonal treatment. For adult women, replacement therapy is necessary for feminization, for men it is carried out to eliminate sterility, and for children in order to overcome psychological difficulties associated with early development secondary sexual characteristics.

Drug therapy for the disease consists of the use of the following hormonal drugs:

For correction hormonal function adrenal glands, patients are prescribed glucocorticoid drugs - Dexamethasone, Prednisolone, Hydrocortisone.
In case of miscarriage, Duphaston is prescribed.
Estrogen-androgen drugs are indicated for women who do not plan pregnancy in the future - Diana-35, Marvelon.
To normalize ovarian function it is necessary to take oral contraceptives with progestins.
From non-hormonal drugs reduces hirsutism "Veroshpiron".

Crises of adrenal insufficiency can be prevented by increasing the dose of corticosteroids by 3-5 times. Treatment is considered effective if women have normalized menstrual cycle, ovulation appeared, pregnancy occurred.

Surgical treatment of AHS is performed for girls aged 4-6 years. It consists of correction of the external genitalia - vaginal plastic surgery, clitoridectomy. Psychotherapy is indicated for those patients who are unable to independently adapt to society and do not perceive themselves as a full-fledged person.

Prevention

If there is a family history of adrenal hyperplasia, all married couples need to consult a geneticist. Prenatal diagnosis consists of dynamic observation for a pregnant woman at risk for 2-3 months.

Prevention of AGS includes:

regular examinations by an endocrinologist,
newborn screening,
careful planning of pregnancy,
examination of future parents for various infections,
eliminating the impact of threatening factors,
visit to a geneticist.

Forecast

Timely diagnosis and high-quality replacement therapy make the prognosis of the disease relatively favorable. Early hormonal treatment stimulates proper development genital organs and allows you to preserve reproductive function in women and men.

If hyperandrogenism persists or cannot be corrected with corticosteroid drugs, patients remain short in stature and have characteristic cosmetic defects. This disrupts psychosocial adaptation and can lead to nervous breakdown. Adequate treatment enables women with classic forms of AGS to become pregnant, carry and give birth to a healthy child.

Video: presentation on adrenogenital syndrome

Video: adrenogenital syndrome, “Live Healthy” program

Adrenogenital syndrome (AGS) is heavy. It has an autosomal recessive pattern of inheritance. It can occur equally in both men and women. Most forms can be detected from the moment of birth. This condition requires mandatory treatment, as it can cause the development of complications in a short period of time.

Causes of adrenogenital syndrome

The main reason leading to the development of adrenogenital syndrome is a genetic disorder leading to a deficiency of an enzyme involved in the synthesis of steroid hormones, carried out in the adrenal glands.

Most often, this is a deficiency of a gene located in the region of the short arm belonging to the sixth chromosome. Less commonly, the cause is a deficiency of an enzyme such as 3-beta-ol-dehydrogenase 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 the blood serum.

Due to the fact that cortisol levels decrease, the secretion of adrenogenital hormones increases, promoting hyperplasia of the zone in the adrenal cortex responsible for the synthesis of androgen.

As a result of disruption of complex biochemical processes, the following occurs:

cortisol deficiency.
adrenocorticotropic hormone increases compensatoryly.
Aldosterone levels decrease.
There is an increase in substances such as progesterone, 17-hydroxyprogesterone and androgens.

Classification

Among the main forms of the disease are:

Adrenogenital syndrome in salt-wasting form. It is the most common form, which is diagnosed in childhood from birth to one year. The disease is characterized by a disorder in hormonal balance and insufficiency of functional activity in the adrenal cortex. During diagnosis, aldosterone is determined in low values for its normal value. Due to it, the water-salt balance is maintained. Therefore, with aldosterone deficiency, the functioning of the cardiovascular system is disrupted and instability in blood pressure appears. IN renal pelvis significant salt deposits appear.
Adrenogenital syndrome in virile form. Is one of classic options pathological process. Adrenal insufficiency in such a case not developing. Only the external genitalia change. It appears immediately from the moment of birth. There are no violations of the reproductive system observed from the internal organs.
Adrenogenital syndrome in postpubertal form. This course of the disease is atypical and can occur in sexually active women. The cause can be determined not only by the presence of a mutation, but also by a tumor in the adrenal cortex. The most common manifestation is the development of infertility. Sometimes it can also be detected in cases of recurrent miscarriage.

Symptoms of adrenogenital syndrome

There are a lot of symptoms of adrenogenital syndrome, they may depend on the predominant form.

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

Young children are characterized by high growth and large body weight. The appearance is gradually changing. TO adolescence growth stagnation is observed, body weight undergoes normalization. In adulthood, people suffering from adrenogenital syndrome are short and thin;
hyperandrogenism is characterized by a large penis and small testicles in males. In girls, adrenogenital syndrome is manifested by a penis-shaped clitoris, with predominantly male hair type (see photo above). In addition, girls have signs of hypersexuality and a rough voice;
against the background of rapid growth, pronounced deformation of the musculoskeletal system is observed;
people are characterized by instability in their mental state;
there are areas of hyperpigmentation in the skin area;
convulsive syndrome appears periodically.

In its simple form, adrenogenital syndrome in boys manifests itself:

a penis enlarged several times;
the scrotum acquires pronounced hyperpigmentation, as does the anal area;
marked hypertrichosis is noted;
an erection occurs already in childhood;
The boy's voice is rough and has a low timbre;
on skin acne vulgaris appears;
there is pronounced premature masculinization and accelerated formation of bone tissue.;
growth may be quite low.

Postpubertal congenital adrenogenital syndrome manifests itself:

late onset of menstruation;
the menstrual cycle is characterized by severe instability, with impaired frequency and duration. There is a tendency to oligomenorrhea;
noted, predominantly male type;
the skin becomes oilier, the pores in the facial area expand;
masculine physique, characterized by the development of broad shoulders and a narrow pelvis;
mammary glands are small in size, often only skin fold with an underdeveloped nipple.

Viril form:

It is characterized by the fact that the structure of the external genitalia has intersex characteristics.

clitoris has big sizes, in the area of the head there is an extension of the urethra;
the size and shape of the labia resembles the scrotum;
Excessive hair growth is detected in the area of the scrotum and armpits;
adrenogenital syndrome in newborns does not always allow gender identification. Girls are very similar in appearance to boys. In the area of the mammary glands puberty no growth is observed.

Salt form:

The child is characterized by slow weight gain.
immediately after birth, severe vomiting appears, which is repeated in nature, there is no appetite, severe pain appears in the abdominal area with tension in the anterior abdominal wall, after each feeding, regurgitation;
Dehydration develops quite quickly, in which sodium decreases and potassium increases;
within a few days the child becomes lethargic, stops sucking normally, consciousness becomes collapsing to the point where cardiogenic shock develops and possible death with untimely assistance.

Diagnostics

Diagnosis begins with complaints and anamnestic data. These may be changes in the child’s condition after birth, reproductive dysfunction, or the development of recurrent miscarriage.

A mandatory external inspection is carried out to assess the condition of all systems. Considerable attention should be paid to the figure, height, and its correspondence to age parameters; examination of the nature of hair growth and organs of the reproductive system will continue.

Laboratory and instrumental methods.

Among them:

general blood test and biochemical research with determination of electrolytes. Among them, it is necessary to determine the level of electrolytes such as chlorides, sodium, potassium, etc.;
An assessment of the hormonal profile is mandatory. It is required to determine the level of adrenal hormones, estrogens and testosterone, both free and bound:
- great importance plays a role in determining the level of 17-hydroxyprogesterone. For women, measurements are carried out only during the period follicular phase. The diagnosis can be excluded only if its value is below 200 ng/dl;
- if the value exceeds more than 500 ng/dl, the diagnosis is fully confirmed and additional methods are not always required;
- if the value is more than 200, but less than 500, it is necessary to conduct an ACTH test in order to make a diagnosis. When an ACTH test is performed and a value above 1000 ng/dl is obtained, a diagnosis of adrenogenital syndrome is made;
- it is necessary to evaluate the condition of urine;
Of the instrumental methods, ultrasound examination of organs is very popular.
- for girls, it is mandatory to conduct an ultrasound of the uterus and appendages at the time of assessing function and the presence of organic pathology;
- for boys, it is necessary to evaluate the condition of the scrotal organs using an ultrasound examination;
- For individuals of each sex, it is required to conduct an ultrasound of the retroperitoneal organs in order to determine the size, structure, and presence of tumor formations in the adrenal glands.
if ultrasound fails to detect pathological conditions in the adrenal glands, an X-ray of the skull or magnetic resonance imaging of the brain should be performed to identify focal tumor formations or hyperplasia of the pituitary gland;
an additional method is electrocardiography to assess functional state of cardio-vascular system.

Differential diagnosis

A mandatory point in diagnosing adrenogenital syndrome is to exclude other pathologies.

Among the most similar pathologies are:

hermaphroditism. Often external disorders differentiated can be combined with pathology of the internal genital organs;
adrenal insufficiency. In this case, it is necessary to evaluate additional symptoms and diagnostic methods, since they are often similar. But adrenal insufficiency manifests itself after a provoking factor against the background of previous health;
androgen-producing tumor in the adrenal glands. A similar condition develops after some time; in childhood this is a rare pathology;
pyloric stenosis. This is a pathology that has characteristic symptoms with salt-losing form.

Treatment of adrenogenital syndrome

The basis of therapy is medications, exhibiting substitutive properties. These include drugs from the group of glucocorticosteroids, such as Prednisolone or Dexamethasone.

Prednisolone or Dexamethasone

The latter has less side effects, therefore it is used mainly for children. Dosage calculation is carried out in individually, depending on the level of the hormone. Daily dose should be divided into several doses, a two-time dose with the use of the main part of the substance in evening time. This is due to the fact that at night there is increased production of hormones.

If a patient has a salt-wasting form, additionally apply Fludrocortisone.

Fludrocortisone

In order to normalize ovarian function, combined oral contraceptives are used, which can have an antiandrogenic effect.

Particular attention is paid to pregnant women. Prescription required to prevent miscarriage Duphaston, contributing to the creation of a favorable hormonal background. Currently preference is given to Utrozhestan, given dosage form Progesterone can be used up to 32 weeks of pregnancy, which makes it possible to prolong pregnancy until the fetus is fully developed.

Surgery

Surgical treatment is not used in this case. It is only possible to use plastic reconstructive surgeries aimed at correcting a cosmetic defect in the genital area.

Folk remedies

Folk remedies are not used in the treatment of adrenogenital syndrome. This is due to the fact that no herbal remedy can fully compensate for the hormone deficiency.

Prevention

Mer specific prevention There is no drug 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, you should consult with a geneticist at the stage of conception and determine the degree of risk in the occurrence of the syndrome. This is especially important if future parents or close relatives have a similar pathology.

At developing pregnancy, parents in whose family there are cases of this pathology should undergo karyotyping of the fetus in order to check the genotype for the presence of defects and follow all recommendations for pregnancy management.

Complications

The course of the disease largely depends on the form of the process. in salt-wasting form can be life-threatening. In this case, it is important to diagnose the pathology as early as possible and carry out adequate therapy.

People suffering from adrenogenital syndrome have an increased risk of developing infertility in both men and women.

If pregnancy develops, there is a high risk of miscarriage. To preserve the viability of the fetus, conservation therapy is required from the first days after fertilization.

Patients with adrenogenital syndrome often suffer from depression and other psychological disorders. Among this group of people, the frequency of suicide attempts is increased.

Forecast

With timely diagnosis of the form of adrenogenital syndrome, the prognosis will be relatively favorable. In many ways more mild course pathology is associated with the form of the disease. Only the salt-wasting form is more severe, which requires urgent medical intervention with the prescription of medications.
That is why it is important to make a timely diagnosis when a child experiences a deterioration in health or the presence of signs characteristic of this syndrome.

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

Etiology

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

Pathogenesis

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

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

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

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

Under the influence of hyperproduction of ACTH, progesterone derivatives are also intensively formed, of which the most characteristic is an increase in the content of pregnanetriol, which is released into the urine per day in an amount of more than 2 mg (the highest limit of normal). In approximately 1/3 of patients with adrenogenital syndrome, the formation of cortisol and aldosterone is very low, and then the picture of a severe, salt-wasting type of adrenogenital syndrome develops.

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

Thus, with excess production of androgenic hormones due to impaired cortisol biosynthesis in daily urine, the content of androgens, which are secreted as 17-ketosteroids, increases. The question of which androgenic compound or group of compounds with androgenic activity plays a role in congenital adrenal hyperplasia has not yet been fully clarified.

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

Symptoms of congenital adrenogenital syndrome

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

The most common form of the disease is the virile form. Symptoms of the disease in girls usually appear at birth, less often in the first years of the postnatal period. In boys, penile growth and hair development develop in the 2-3rd year of life, which makes it difficult early diagnosis diseases.

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

Naturally, such girls do not subsequently experience puberty, mammary glands do not appear and there are no menstruation.

In boys, as noted, adrenogenital syndrome begins to manifest itself only from 2-3 years. From this time on, the child undergoes increased physical and false puberty. Rapid growth, increased muscle development, enlargement of the penis, excessive hair growth, and the appearance of pubic hair make such a child look like an adult man. Precocious boys may develop erections and sometimes have sexual feelings, but in the presence of a child's psyche. Naturally, in such children the testicles are in an infantile state and do not develop further.

In both girls and boys, accelerated growth ceases over time due to early closure of the epiphyseal growth plates. As a result, such children, despite a high growth rate in the first years of life, remain stunted in the future.

Somewhat less frequently, congenital adrenogenital syndrome can be combined with significant electrolyte imbalance. According to Wilkins' classification, this would be salt-wasting adrenogenital syndrome.

Along with the symptom complex of virilism, indicating the overproduction of corticosteroids with androgenic activity, the glucocorticoid and mineralocorticoid functions of the adrenal cortex are reduced in such children. The origin of electrolyte imbalance in adrenogenital syndrome is not entirely clear. It is suggested that there is a deficiency (or absence) of the hormone that retains salt in the body - aldosterone. Thus, in 1959, Blizzard and Wilkins found that in the simple virile form of the disease, aldosterone secretion occurs normally; in the salt-wasting form of adrenogenital syndrome, the level of aldosterone in the blood was reduced. At the same time, Prader and Velasco in 1956 noted the possibility of the adrenal cortex secreting hormones that increase the excretion of sodium from the body. These hormones appear to be different from aldosterone.

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

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

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

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

The diagnosis is determined by the increased level of 17-ketosteroids in the urine for a given age. A high level of potassium in the blood plasma and a low level of sodium helps in diagnosis. The electrocardiogram often has the appearance typical of hyperkalemia.

The third type of adrenogenital syndrome is quite rare - its hypertensive form. It is caused by a violation of 11-C-hydroxylation at the last stage of cortisol synthesis with excessive release of deoxycorticosterone into the blood, which can increase blood pressure. These patients, in addition to hypertension, have all the symptoms of virile syndrome. Cortisone therapy helps lower blood pressure in patients.

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

Despite the fact that with congenital dysfunction of the adrenal cortex, the synthesis of cortisol is impaired, disorders of carbohydrate metabolism are rare. Hypoglycemia with repeated hypoglycemic crises is still possible (without disruption of electrolyte regulation).

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

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

Diagnostics

The diagnosis of congenital dysfunction of the adrenal cortex is not difficult when, already at birth, the child is found to have abnormal development of the external genitalia, hirsutism, and accelerated physical development. A correctly collected anamnesis is important: rapid development of virilization indicates the presence of a tumor of the adrenal cortex, gradual development is more typical for congenital adrenogenital syndrome. In this regard, suprarenorography data with the introduction of oxygen through the perinephric tissue can be of great help. This method allows you to examine the adrenal glands from both sides at once.

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

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

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

Partial disruption of cortisol synthesis in adrenogenital syndrome leads to the excretion of its metabolic products - tetrahydroderivatives - in the urine. However, more often there is more gross violation synthesis of cortisol, which leads to the release of metabolites of intermediate products of cortisol synthesis - progesterone and 17-hydroxyprogeeterone. This occurs when 21-hydroxylation is impaired, and therefore, in the diagnosis of congenital adrenogenital syndrome, it is important to determine the products of progesterone and 17-hydroxyprogesterone. These products are pregnanediol (a metabolite of progesterone) and pregnanetriol and pregnanetriolone (metabolites of 17-hydroxyprogesterone).

All these metabolites appear in the urine in significant quantities already in early stages diseases, and their presence indicates a blockade of 21-hydroxylation. It has been established that pregnanediol, pregnanetriol and pregnanetriolone can accumulate in the urine in virilizing adrenal adenomas, which should be taken into account in the differential diagnosis of viril syndrome.

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

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

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

Treatment of congenital adrenogenital syndrome

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

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

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

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

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

Salt-wasting syndrome, which more often occurs in children with congenital adrenal hyperplasia under the age of 4-5 years, requires urgent administration of table salt, cortisone and deoxycorticosterone (DOC), and doses are prescribed in accordance with the severity of the disease. In case of acute loss of salt (occurring as an Addisonian crisis), hydrocortisone is administered intravenously at the rate of 5 mg (kg) per day and 0.5-1 mg (kg) per day DOC. A solution (5%) of glucose is injected intravenously (drip method) approx. 1000 ml with the addition of 20% sodium chloride solution per 1 kg of body weight. The rate of administration is 100 ml of liquid per hour. With the gradual development of the syndrome, 5 mg of cortisone per 1 kg of weight can be recommended. If necessary, add DOC 2 mg per day with a gradual increase in the dose of the drug. Subcutaneous additions of crystals (100-125 mg) of DOC have a good effect, which is very slowly absorbed into the blood and maintains the electrolyte balance of the body. In hypertensive forms of the disease, the patient should not be given DOC and other hormones that increase sodium and water retention. A good effect is achieved from the use of cortisone or prednisolone. It should be pointed out that if patients become ill or undergo surgery, it is recommended to increase the dose of hormones, which is especially important in salt-wasting forms of adrenogenital syndrome.

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

First case:

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

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

On admission, height 131 cm, weight 25 kg 700 g. Aspae vulgaris is present on the skin. On the pubis there is pronounced male-type hair growth. There are no changes in the structure of the skeleton. Heart - without any peculiarities, pulse 92 beats per minute, good filling, heart sounds are clear. Blood pressure 110/65 mm. No changes in internal organs were detected. The clitoris is penis-shaped, 3 cm long, erect. The urethra opens into the urogenital sinus at the root of the clitoris. There are labioruni scrotulae, in the thickness of which the testicles are not identified. The uterus, the size of a lentil, was palpated rectally. No tumors were detected in the pelvis.

Data x-ray examination: the shape and size of the sella turcica are not changed, bone age corresponds to 12 years.

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

The patient was prescribed prednisolone 5 mg 2 times a day and the hormonal profile was examined again. The daily amount of 17-ketosteroyls was 2.4 mg, 17-hydroxycorticosteroids - 3-2 mg, pregnanediol - 1.7 mg, pregnanetriol - 2.2 mg, dehydroepiandrosterone - 0.7 mg.

The girl was discharged on February 15, 1965. She was prescribed to constantly take prednisolone 5 mg 2 times a day under supervision general condition, weight, blood pressure, content of 17-ketosteroids in urine

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

Second case:
Vova R., 5 and a half years old, was admitted on XII 16/1964 to the children's department of the Institute of Experimental Endocrinology and Hormone Chemistry of the Academy of Medical Sciences with complaints of accelerated physical and sexual development. The boy was born large - weight 4550 g. Until the age of 4, the child developed normally, but was ahead of his peers in growth. At the age of 5, the mother noticed an enlargement of the genitals; soon after this, pubic hair appeared and growth accelerated significantly. Over the past year it has grown by 15 cm.

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

The urinary excretion per day of 17-ketosteroids reached 26.1 mg, 17-hydroxycorticosteroids - 2.4 mg, dehydroepiandrosterone - 1 mg.

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

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

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