Congenital adrenal cortex dysfunction - Overview of information

Congenital adrenal cortex dysfunction is also known to physicians as congenital adrenogenital syndrome. In recent years, the disease has been described more often under the name of "congenital virilizing hyperplasia of the adrenal cortex", emphasizing the action of adrenal androgens on the external genitalia. It is now known that congenital adrenal cortex hyperplasia does not always result in macrogenitosomia in male patients and virilization of the external genitalia in women. For these reasons, we have abandoned the use of the terms "congenital virilizing hyperplasia of the adrenal cortex" and "congenital androgenital syndrome".

There are also frequent cases of late diagnosis and incorrect treatment of patients with this pathology. The issue of timely diagnosis and correct treatment is very important, since under this condition the physical and sexual development of patients with congenital adrenogenital syndrome is almost no different from healthy ones.

Congenital adrenogenital syndrome is genetically determined and is expressed in the deficiency of enzyme systems that ensure the synthesis of glucocorticoids; it causes increased secretion of ACTH by the adenohypophysis, which stimulates the adrenal cortex, which secretes mainly androgens in this disease.

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

With a defect in the enzyme 20,22-desmolase, the synthesis of steroid hormones from cholesterol into active steroids is disrupted (aldosterone, cortisol and androgens are not formed). This leads to salt wasting syndrome, glucocorticoid deficiency and insufficient sexual masculinizing development in male fetuses. While female patients have normal internal and external genitalia, boys are born with feminine external genitalia and pseudohermaphroditism is observed. So-called congenital lipoid hyperplasia of the adrenal cortex develops. Patients die in early childhood.

Causes and pathogenesis of congenital dysfunction of the adrenal cortex

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Symptoms of congenital adrenogenital syndrome

The following main forms of the disease are encountered in practice.

1. Virile or uncomplicated form, characterized by symptoms dependent on the action of adrenal androgens, without noticeable manifestations of glucocorticoid and mineralocorticoid deficiency. This form usually occurs with moderate deficiency of the enzyme 21-hydroxylase.
2. The salt-wasting form (Debré-Fibiger syndrome) is associated with a more profound deficiency of the enzyme 21-hydroxylase, when the formation of not only glucocorticoids but also mineralocorticoids is disrupted. Some authors also distinguish variants of the salt-wasting form: without androgenization and without pronounced virilization, which are usually associated with a deficiency of the enzymes 3b-ol-dehydrogenase and 18-hydroxylase.
3. The hypertensive form occurs due to a deficiency of the enzyme 11b-hydroxylase. In addition to virilization, symptoms associated with the entry of 11-deoxycortisol (Reichstein's "S" compound) into the blood appear.

Symptoms of congenital adrenal cortex dysfunction

Diagnosis and differential diagnosis of congenital adrenogenital syndrome

When a child is born with an intersex structure of the external genitalia and the absence of palpable testicles, a study of sex chromatin should be a mandatory diagnostic method of research, allowing to avoid errors in determining the sex of congenital adrenogenital syndrome in girls.

Determination of the level of 17-ketosteroids (17-KS) in urine or 17-hydroxyprogesterone in blood is the most important diagnostic method: in congenital adrenogenital syndrome, the excretion of 17-KS in urine and the level of 17-hydroxyprogesterone in blood may exceed the norm by 5-10 times, and sometimes even more. The content of total 17-OKS in urine in virile and salt-wasting forms of the disease has no diagnostic value. However, in the hypertensive form of the disease, total 17-OKS are increased mainly due to the fraction of 11-deoxycortisol (Reichstein's "S" compound).

Diagnosis of congenital adrenal cortex dysfunction

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Gender selection in patients with congenital adrenogenital syndrome

Sometimes at birth, a child with genetic and gonadal sex is mistakenly assigned male sex due to pronounced masculinization of the external genitalia. In case of pronounced pubertal virilization, adolescents with true female sex are offered to change their sex to male. Treatment with glucocorticoids quickly leads to feminization, development of mammary glands, appearance of menstruation, up to restoration of reproductive function. In case of congenital adrenogenital syndrome in individuals with genetic and gonadal female sex, the only appropriate choice is female civil sex.

Changing gender in case of its erroneous determination is a very complex issue. It should be resolved at the earliest possible age of the patient after a comprehensive examination in a specialized hospital, consultation with a sexologist, psychiatrist, urologist and gynecologist. In addition to endocrine-somatic factors, the doctor must take into account the patient's age, the strength of his psychosocial and psychosexual attitudes, the type of his nervous system. Persistent and purposeful psychological preparation is necessary when changing gender.

Treatment of congenital adrenal cortex dysfunction