A Simple Viril Form of Adrenogenital Syndrome

What is a Simple Viril Form of Adrenogenital Syndrome?

A simple virile form of adrenogenital syndrome (AGS) is a genetically determined congenital disease associated with a deficiency of the enzyme system C21-hydroxylase in the adrenal cortex. This defect leads to a lack of cortisol formation and an increase in the release of adrenocorticotropic hormone (ACTH). Increased stimulation of ACTH causes an increase in androgen synthesis and bilateral adrenal cortical hyperplasia. Impaired adrenal function begins in utero, almost simultaneously with the onset of their functioning as the endocrine gland.

Symptoms of a Simple Viril Form of Adrenogenital Syndrome

In the child immediately after birth, the abnormal structure of the external genitalia is noted: the clitoris is hypertrophied (up to the penis-like), the merged large labia resemble the scrotum, the vagina and urethra open on the perineum with a single opening of the urogenital sinus. With severe virilization, sex determination is difficult. However, the ovaries and uterus in these children are developed correctly, chromosome set 46, XX (false female hermaphroditism).

In these children, growth in the first decade of life is sharply accelerated, and by the age of 10, growth sharply slows down due to the rapid completion of ossification. The physique has dysplastic features: broad shoulders, a narrow pelvis, short limbs, a long body. Under the influence of an excess of androgens, viril hypertrichosis begins and progresses, and the voice timbre decreases. The mammary glands do not develop and menstruation is absent.

Diagnosis of a Simple Viril Form of Adrenogenital Syndrome

The most informative diagnostic sign of ATS is a sharp increase in the excretion of 17-KS and a high level of the cortisol precursor in the blood – 17-hydroxyprogesterone.

Treatment of a Simple Viril Form of Adrenogenital Syndrome

Therapy begins from the moment of diagnosis and consists in the prolonged use of glucocorticosteroids. The dose depends on the age, body weight and severity of hyperandrogenism. Timely treatment that has been started allows normalizing sexual development, achieving regular menstruation during ovulatory cycles, and subsequently ensures gestation and childbirth.

Feminizing plasticization of virilized genitalia in girls with congenital dysfunction of the adrenal cortex is recommended in one step until the age of sexual identity (up to 3 years) is reached. Surgical treatment consists in resection of the cavernous bodies of the clitoris simultaneously with the reconstruction of the vagina.