Adrenogenital Syndrome

Adrenogenital syndrome (AGS) is a group of hereditary diseases that are associated with deficiency of enzymes responsible for the synthesis of steroid hormones of the adrenal cortex. The adrenal cortex produces several types of hormones, including cortisol, aldosterone, and androgens, which regulate various processes in the body. A deficiency of any of these hormones can lead to the development of various forms of AGS.

AHS is an autosomal recessive inherited disorder, meaning that the risk of the disease in children increases if both parents are carriers of the mutation. The incidence of the disease is approximately 1 in 5000-6500 newborns.

The pathogenesis of AGS is associated with a hereditary defect in the enzymatic systems of the adrenal cortex, most often with deficiency of 21-hydroxylase or 11-hydroxylase. This leads to a decrease in the level of cortisone and aldosterone in the blood, but does not affect the synthesis of sex hormones. Low cortisol levels stimulate the hypothalamic-pituitary axis and lead to increased ACTH secretion. A high level of ACTH, in turn, promotes hyperplasia of the adrenal cortex, in the area where the synthesis of hormones, mainly androgens, is not impaired. This leads to hyperproduction of androgens and the appearance of the characteristic symptoms of AGS.

Depending on the nature of the enzymatic defect, two main forms of AGS are distinguished: virile (simple, compensated) and salt-losing. The viril form is the most common and is associated with 21-hydroxylase deficiency. In this form, only the synthesis of glucocorticoids is impaired, which is partially compensated by adrenal hyperplasia and leads to latent adrenal insufficiency. With this form of the disease, girls experience androgenization of secondary sexual characteristics, and boys experience an enlargement of the penis.

Symptoms of AGS can be different and vary depending on the severity of the disease. Newborns may exhibit signs of false female hermaphroditism or an enlarged penis. Children who are not treated will show signs of precocious puberty as they age, such as increased growth, facial and body hair, and, in girls, an unusually early onset of menstruation. Women with AGS may experience menstrual irregularities, hypertrichosis (excessive hair growth), as well as masculinization (increased muscle mass, the voice becomes rough, etc.). Men with AGS may have enlarged penis and testicles, as well as hypertrichosis.

Treatment of AGS is aimed at compensating for the lack of hormones. For this purpose, glucocorticoids and mineralocorticoids are used, which are necessary for the normal functioning of the body. In patients with the viril form of AGS, androgenic drugs are used to compensate for the lack of androgens. Early treatment helps prevent the development of serious complications and reduce symptoms of the disease.