Clinical Case Reports (Feb 2023)
Case report: Management challenges of late diagnosed 17‐alpha hydroxylase deficiency
- Dhoha Ben Salah,
- Oumeyma Trimeche,
- Mouna Elleuch,
- Wafa El abed,
- Ameni Salah,
- Fatma Abdelhadi,
- Hassen Kammoun,
- Wiem Feki,
- Zeineb Mnif,
- Khansa Chaabouni,
- Fatma Ayedi,
- Fatma Mnif,
- Nabila Rekik,
- Mouna Mnif,
- Nadia Charfi,
- Faten Hadj kacem,
- Mohamed Abid
Affiliations
- Dhoha Ben Salah
- Department of Endocrinology Hedi Chaker Hospital Sfax Tunisia
- Oumeyma Trimeche
- Department of Endocrinology Hedi Chaker Hospital Sfax Tunisia
- Mouna Elleuch
- Department of Endocrinology Hedi Chaker Hospital Sfax Tunisia
- Wafa El abed
- Department of Endocrinology Hedi Chaker Hospital Sfax Tunisia
- Ameni Salah
- Department of Endocrinology Hedi Chaker Hospital Sfax Tunisia
- Fatma Abdelhadi
- Department of Human Molecular Genetics, Faculty of Medicine Sfax Tunisia
- Hassen Kammoun
- Department of Human Molecular Genetics, Faculty of Medicine Sfax Tunisia
- Wiem Feki
- Department of Radiology Hedi Chaker Hospital Sfax Tunisia
- Zeineb Mnif
- Department of Radiology Hedi Chaker Hospital Sfax Tunisia
- Khansa Chaabouni
- Department of Biochemistry Habib Bourguiba Hospital Sfax Tunisia
- Fatma Ayedi
- Department of Biochemistry Habib Bourguiba Hospital Sfax Tunisia
- Fatma Mnif
- Department of Endocrinology Hedi Chaker Hospital Sfax Tunisia
- Nabila Rekik
- Department of Endocrinology Hedi Chaker Hospital Sfax Tunisia
- Mouna Mnif
- Department of Endocrinology Hedi Chaker Hospital Sfax Tunisia
- Nadia Charfi
- Department of Endocrinology Hedi Chaker Hospital Sfax Tunisia
- Faten Hadj kacem
- Department of Endocrinology Hedi Chaker Hospital Sfax Tunisia
- Mohamed Abid
- Department of Endocrinology Hedi Chaker Hospital Sfax Tunisia
- DOI
- https://doi.org/10.1002/ccr3.6962
- Journal volume & issue
-
Vol. 11,
no. 2
pp. n/a – n/a
Abstract
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
