Case report: Management challenges of late diagnosed 17-alpha hydroxylase deficiency

Clin Case Rep. 2023 Feb 21;11(2):e6962. doi: 10.1002/ccr3.6962. eCollection 2023 Feb.

Abstract

Herein we report the intriguing case of a 42-year-old woman presenting with grade three hypertension, severe hypokalemia and primary amenorrhea, which revealed to be the complete form of 17 alphahydroxylase deficiency. We also discuss the challenging therapeutic approach as well as the outcomes and the follow-up of this patient.

Keywords: 17‐alpha‐hydroxylase deficiency; congenital adrenal hyperplasia; disorders of sex development; hypertension; hypokalemia.

Publication types

  • Case Reports