Congenital adrenal cortex dysfunction: a review of information

Congenital adrenal cortex dysfunction is also known to doctors as a congenital adrenogenital syndrome. In recent years, the disease is described more often as "congenital virilizing hyperplasia of the adrenal cortex", which emphasizes the effect of adrenal androgens on the external genitalia. It is now known that not always with congenital hyperplasia of the adrenal cortex, there is macrogensitis in male patients and virilization of the external genitalia in women. For these reasons, we abandoned the use of the terms "congenital virilizing hyperplasia of the adrenal cortex" and "congenital androgenital syndrome".

There are also cases of late diagnosis and treatment of patients with this pathology. The question of timely diagnosis and proper treatment is very important, since under this condition the physical and sexual development of patients with congenital adrenogenital syndrome hardly differs from healthy ones.

Congenital adrenogenital syndrome - is genetically conditioned, expressed in the inadequacy of enzyme systems providing synthesis of glucocorticoids; causes increased excretion of adenohypophysis ACTH, which stimulates the adrenal cortex, secreting this disease mainly androgens.

In congenital adrenogenital syndrome, as a result of the recessive gene, one of the enzymes is affected. Due to the hereditary nature of the disease, the disruption of the corticosteroid biosynthesis process begins in the intrauterine period, and the clinical picture is formed depending on the genetic defect of the enzyme system.

When the defect of the enzyme 20,22-desmolase is broken, the synthesis of steroid hormones from cholesterol to active steroids (aldosterone, cortisol and androgens are not formed). This leads to a syndrome of salt loss, glucocorticoid insufficiency and an insufficient sexual masculinizing development in male fetuses. If female patients have a normal structure of internal and external genitalia, then boys have at birth a feminine external genitalia, phenomena of pseudohermaphroditism are noted. Develops the so-called congenital lipoid hyperplasia of the adrenal cortex. Patients die in early childhood.

Causes and pathogenesis of congenital adrenal cortex dysfunction

[1], [2], [3], [4], [5], [6]

Symptoms of congenital adrenogenital syndrome 

In practice, the following main forms of the disease occur.

1. Viral, or uncomplicated form, characterized by symptoms that depend on the action of adrenal androgens, without noticeable manifestations of glucocorticoid and mineralocorticoid insufficiency. This form occurs usually with a moderate deficiency of the enzyme 21-hydroxylase.
2. Soltering form (Debreu-Phibiger syndrome) is associated with deeper deficiency of the enzyme 21-hydroxylase, when the formation of not only glucocorticoids but also mineralocorticoids is disrupted. Some authors distinguish still variants of the salt-losing form: without androgenation and without pronounced virilization, which are usually associated with a deficiency of the enzymes of Zb-ol dehydrogenase and 18-hydroxylase.
3. The hypertonic form occurs when the enzyme 11b-hydroxylase deficiency is deficient. In addition to virilization, the symptoms associated with the entry into the blood of 11-deoxycortisol (compound "S" Reichstein).

Symptoms of congenital dysfunction of the adrenal cortex

Diagnosis and differential diagnosis of congenital adrenogenital syndrome

At the birth of a child with an intersexual structure of the external genitalia and the absence of palpable testicles, the study of sex chromatin should be an obligatory diagnostic method of research, which makes it possible to avoid mistakes in determining the gender of congenital adrenogenital syndrome in girls.

Determining the level of 17-ketosteroids (17-CS) in urine or 17-hydroxyprogesterone in the blood is the most important diagnostic method: with congenital adrenogenital syndrome, excretion of 17-CS with urine and 17-hydroxyprogesterone level in blood can exceed the norm by 5-10 times, and sometimes more. The content of total 17-ACS in urine with virile and salt-losing forms of the disease has no diagnostic significance. However, in the hypertensive form of the disease, the total 17-ACS is increased mainly due to the fraction 11-deoxycortisol (compound "S" Reichstein).

Diagnosis of congenital adrenal cortex dysfunction

[7], [8], [9], [10], [11], [12]

The choice of sex in patients with congenital adrenogenital syndrome

Sometimes, at birth, a child who has a genetic and gonadal sex, due to the expressed masculinization of the external genitalia, mistakenly install the male sex. With pronounced pubertal virilization, adolescents with a true female sex are offered to change their gender to male. Treatment with glucocorticoids leads quickly to feminization, development of mammary glands, the appearance of menstruation, until the restoration of childbearing function. With congenital adrenogenital syndrome in persons with a genetic and gonadal female sex, it is only expedient to choose a female gender.

Sex change in case of its erroneous definition is a very difficult question. It should be solved at the earliest possible age of the patient after a comprehensive examination in a specialized hospital, a sexopathologist, a psychiatrist, a urologist and a gynecologist. In addition to endocrine-somatic factors, the doctor must take into account the age of the patient, the strength of his psychosocial and psychosexual settings, the type of his nervous system. Persistent and purposeful psychological preparation is necessary when changing sex.

Treatment of congenital dysfunction of the adrenal cortex