학술논문
Case report: Management challenges of late diagnosed 17‐alpha hydroxylase deficiency
Document Type
Report
Author
Source
Clinical Case Reports. February 2023, Vol. 11 Issue 2
Subject
Language
English
Abstract
INTRODUCTION The CYP17A1 gene encodes for the P450c17 enzyme which catalyzes two key enzymes: 17‐alpha hydroxylase and 17,20‐lyase. These enzymes are expressed mainly in the gonads and in the adrenal [...]
: 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.
: 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.