학술논문
Case report: Management challenges of late diagnosed 17‐alpha hydroxylase deficiency.
Document Type
Case Study
Author
Source
Subject
*HYPOKALEMIA
*ADRENAL insufficiency
*THERAPEUTICS
*ADRENOGENITAL syndrome
*DIAGNOSIS
*SEX differentiation disorders
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Language
ISSN
2050-0904
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. One should consider the diagnosis of 17 alpha hydroxylase as the etiology of hypertension, hypokalemia, and adrenal insufficiency regardless of the age of patients. Biochemical findings can be atypical with slightly elevated ACTH and normal aldosterone level. The management of this condition is challenging and should be multidisciplinary. [ABSTRACT FROM AUTHOR]