Birthweight in congenital virilizing adrenal hyperplasia.

The deficiency of C-21-hydroxylation in adrenocorticosteroid synthesis is the commonest cause of congenital virilizing adrenal hyperplasia (CVAH). Abnormal secretory activity in CVAH begins about the third month of gestation before the differentiation of external genitalia (Bierich, 1963). The masculinization of the female external genitalia noted at birth in almost all cases is thought to result from the androgenic action of excessive amounts of adrenal androgens produced by the fetal cortex. The rapid somatic growth and increased musculature in untreated patients are considered to be due to the protein anabolic effect of adrenal androgens which continue to be secreted postnatally in large amounts (Wilkins, 1965). In the course of study of CVAH in Ontario, information regarding birthweight of patients with CVAH, their unaffected sibs, and newborn infants in the province of Ontario was obtained and the data were compared. This report summarizes our observations.