Symptoms of congenital adrenal cortex dysfunction

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.

The symptoms of the virile form of congenital adrenogenital syndrome consist of the following symptoms: congenital virilization of the external genitalia in girls (penis-shaped clitoris, urogenital sinus, scrotal labia majora) and premature physical and sexual development in patients of both sexes (heterosexual in girls, isosexual in boys).

In congenital adrenogenital syndrome, the adrenal glands of the fetus secrete an inappropriately large amount of androgens from the beginning of their functioning, which leads to masculinization of the external genitalia in females. Androgens do not affect the differentiation of the internal genitalia; their masculinization is possible only in the presence of the testicles, which secrete a special "anti-Müllerian" substance. The development of the uterus and ovaries occurs normally. At birth, all girls have an abnormal structure of the external genitalia. The intrauterine degree of virilization of the external genitalia can be very pronounced, and there are frequent cases when genotypically female individuals were erroneously assigned the male civil sex at birth. Due to the anabolic effect of androgens in the first years of life, patients grow quickly, overtaking their peers; hair growth as a secondary sexual characteristic appears early; early closure of the epiphyseal growth zones of bones occurs (sometimes by the age of 12-14). Patients remain short, disproportionately built, with a wide shoulder girdle and a narrow pelvis, well-developed muscles. Girls do not develop mammary glands, the uterus lags significantly behind the age norm in size, menstruation does not occur. At the same time, virilization of the external genitalia increases, the voice becomes low, genital hair growth develops according to the male type.

Male patients develop according to the isosexual type. In childhood, hypertrophy of the penis is observed; in some patients, the testicles are hypoplastic and undersized. In puberty and postpuberty, some patients develop tumor-like formations of the testicles. Histological examination of these tumors revealed leydigomas in some cases, and ectopic adrenal cortex tissue in others. However, it should be noted that differential diagnosis between Leydig cell tumors and ectopic adrenal cortex cells is difficult. Some men with this disease suffer from infertility. Azoospermia is detected in their ejaculate.

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

The salt-wasting form of congenital adrenogenital syndrome is most often observed in children. In addition to the signs characteristic of the uncomplicated virile form, there are symptoms of adrenal cortex insufficiency, electrolyte imbalance (hyponatremia and hyperkalemia), poor appetite, lack of weight gain, vomiting, dehydration of the body, and hypotension. If treatment is not prescribed in time, death may occur due to collapse. With age, with proper therapy, these phenomena can be fully compensated.

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