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Ammar R, Ramadan A. Incidental diagnosis of 17 alpha-hydroxylase deficiency: a case report. Oxf Med Case Reports. 2020;2020(12):omaa108doi: 10.1093/omcr/omaa108.
Ammar, R., & Ramadan, A. (2020). Incidental diagnosis of 17 alpha-hydroxylase deficiency: a case report. Oxford medical case reports, 2020(12), omaa108. https://doi.org/10.1093/omcr/omaa108
Ammar, Rasha, and Ramadan, Ahmad. "Incidental diagnosis of 17 alpha-hydroxylase deficiency: a case report." Oxford medical case reports vol. 2020,12 (2020): omaa108. doi: https://doi.org/10.1093/omcr/omaa108
Ammar R, Ramadan A. Incidental diagnosis of 17 alpha-hydroxylase deficiency: a case report. Oxf Med Case Reports. 2020 Dec 05;2020(12):omaa108. doi: 10.1093/omcr/omaa108. eCollection 2020 Dec. PMID: 33304598; PMCID: PMC7720419.
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Oxf Med Case Reports. 2020 Dec 05;2020(12):omaa108. doi: 10.1093/omcr/omaa108. eCollection 2020 Dec.

Incidental diagnosis of 17 alpha-hydroxylase deficiency: a case report.

Oxford medical case reports

Rasha Ammar, Ahmad Ramadan

Affiliations

  1. Department of Obstetrics and Gynecology, Tishreen Hospital, Damascus, Syrian Arab Republic.
  2. Department of Cardiology, Tishreen Hospital, Damascus, Syrian Arab Republic.

PMID: 33304598 PMCID: PMC7720419 DOI: 10.1093/omcr/omaa108

Abstract

A 17 alpha-hydroxylase deficiency (17OHD) is a rare form of congenital adrenal hyperplasia (CAH). In this article we discuss a case of 8-year-old girl presented with upper respiratory infection symptoms and a history of hospital admission of fatigue and dehydration. She was incidentally found to have hypertension and hypokalemia. After an endocrine workup her biochemical tests showed: metabolic alkalosis, low levels of cortisol, high levels of adrenocorticotropic hormone (ACTH) and follicle-stimulating hormone (FSH) with normal female phenotype and (46,XY) karyotype. These findings led to the diagnosis of 17OHD confirmed by regression of hypertension and hypokalemia with hydrocortisone prescription. This case shows the importance of vital signs measurement, medical history and commitment to a systematic approach.

© The Author(s) 2020. Published by Oxford University Press. All rights reserved. For Permissions, please email: [email protected].

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