Virilizing congenital adrenal hyperplasia attributable to steroid 21 hydroxylase deficiency A case report.

Abstract

Introduction: Congenital adrenal hyperplasia is a hereditary disorder caused by the failure of adrenal steroidogenesis. 21-Hydroxylase (21OHD) deficiency accounts for 95% of cases. In severe cases, glucocorticoid and mineralocorticoid synthesis is blocked, which may manifest in the neonatal period, childhood, or adulthood.

Clinical case: We present a case of ambiguous genitalia with a 2 cm long phallus or clitoris, scrotal labia majora, and a single genital orifice at the level of the midraphe. The gonads are not palpable.

Diagnostic workshop: The 17OHP level on day 3 of life was 95 ng/mL, and the karyotype was 46,XX. Blood gas analysis at admission revealed metabolic acidosis.

Progress: The patient is being monitored as an outpatient with urinary and serum sodium measurements. No abnormalities have been reported thus far.

Conclusions: Neonatal diagnosis is essential to identify the origin of a hereditary disorder that affects the development of girls' external genitalia and can cause death in infancy due to salt loss. Newborn screening is essential, as is preconception genetic counseling.