Congenital Adrenal Hyperplasia Due to 17-α-hydroxylase Deficiency: A Case Report.

Abstract

Congenital adrenal hyperplasia, an innate error in adrenal steroid biosynthesis, triggers a wide range of consequences based on the level of enzyme blockade. Due to the various forms of enzyme deficiency and degree of penetration, the clinical features are very variable. In this case report, we present a form of congenital adrenal hyperplasia due to an enzymatic defect of CYP17A1, with a late diagnosis. The recognition of this pathology should occur as early as possible to avoid sequelae, both metabolic and psychological.