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

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

Oxf Med Case Reports

Department of Cardiology, Tishreen Hospital, Damascus, Syrian Arab Republic.

Published: December 2020

AI Article Synopsis

Article 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.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7720419PMC
http://dx.doi.org/10.1093/omcr/omaa108DOI Listing

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