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

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...

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Bibliographic Details
Published in:	Clinical case reports Vol. 11; no. 2; pp. e6962 - n/a
Main Authors:	Ben Salah, Dhoha, Trimeche, Oumeyma, Elleuch, Mouna, El abed, Wafa, Salah, Ameni, Abdelhadi, Fatma, Kammoun, Hassen, Feki, Wiem, Mnif, Zeineb, Chaabouni, Khansa, Ayedi, Fatma, Mnif, Fatma, Rekik, Nabila, Mnif, Mouna, Charfi, Nadia, Hadj kacem, Faten, Abid, Mohamed
Format:	Journal Article
Language:	English
Published:	England John Wiley & Sons, Inc 01-02-2023 John Wiley and Sons Inc Wiley
Subjects:	17‐alpha‐hydroxylase deficiency Amenorrhea Blood pressure Case Report Case reports congenital adrenal hyperplasia Congenital diseases Differences of sex development disorders of sex development Enzymes Estrogens Hormones Hyperplasia Hypertension Hypokalemia Hypotheses Osteoporosis Patients Potassium Steroids hypokalemia disorders of sex development hypertension congenital adrenal hyperplasia 17‐alpha‐hydroxylase deficiency
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Summary:	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.
Bibliography:	ObjectType-Case Study-2 SourceType-Scholarly Journals-1 content type line 23 ObjectType-Report-1
ISSN:	2050-0904 2050-0904
DOI:	10.1002/ccr3.6962