Symptoms of congenital dysfunction of the adrenal cortex

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 the viral form of congenital adrenogenital syndrome consist of the following symptoms: congenital virilization of the external genitalia in girls (penis-like clitoris, urogenital sinus, scrotum large labia) and premature physical and sexual development in patients of both sexes (in girls heterosexual, in boys - in isosexual type).

With congenital adrenogenital syndrome, the adrenal glands of the fetus from the beginning of their functioning secrete an inadequately large amount of androgens, which leads the female to the masculinization of the external genitalia. The androgens do not influence the differentiation of internal genitalia, their masculinization is possible only in the presence of testicles, which release a special "antimulylerovu" substance. Development of the uterus and ovaries is normal. At birth, all girls have an irregular structure of the external genitalia. The intrauterine degree of virilization of the external genitalia can be very pronounced, and it is not uncommon for cases when male genitalia at birth were mistakenly assigned to female individuals. Due to the anabolic effect of androgens in the first years of life, patients grow rapidly, overtaking peers; early appearance of hair follicles as a secondary sexual characteristic; occurs early (sometimes as early as 12-14 years) the closure of epiphyseal growth zones of bones. Patients remain short, disproportionately stacked, with a wide shoulder girdle and a narrow pelvis, well developed musculature. Girls do not develop mammary glands, the uterus falls sharply in size from the age norm, menstruation does not occur. At the same time, the virilization of the external genitalia intensifies, the voice becomes low, the sexual hairs develop according to the male type.

Male patients develop according to the isosexual type. In childhood, there is hypertrophy of the penis, the testicles in some patients are hypoplastic and in size are lagging behind the norm. In puberty and post-puertate age, some patients develop tumor-shaped testicles. Histological examination of these tumors in some cases revealed leudigomas, in others - ectopic tissue of the adrenal cortex. However, it should be noted the difficulty of a differential diagnosis between tumors from Leydig cells and ectopic adrenal cortex cells. Some men with this disease suffer from infertility. When studying the ejaculate, they detect azoospermia.

The hypertensive form of the congenital adrenogenital syndrome differs from the above-described viral form by a persistent increase in blood pressure, which depends on the entry of 11-deoxycorticosterone into the blood. When examining patients, signs that are characteristic of hypertension: signs of cardiac enlargement, changes in the vessels of the fundus, and protein in the urine are revealed.

Soltering form of congenital adrenogenital syndrome is most often observed in children. In addition to the signs characteristic of uncomplicated viril form, symptoms of insufficiency of the adrenal cortex, electrolyte metabolism (hyponatremia and hyperkalemia), poor appetite, absence of weight gain, vomiting, dehydration of the body, hypotension develops. If you do not prescribe treatment in time, death may occur when there is a collapse. With age, with proper therapy, these phenomena can be completely compensated.

[1], [2], [3]