When the history of the disease is the key to diagnosis: About a challenging case of congenital adrenal hyperplasia
Department of Endocrinology, Diabetes, Metabolic diseases and Nutrition Mohammed VI university hospital of Marrakesh Faculty of medicine and pharmacy of Marrakech, Cadi Ayyad University, Marrakesh, Morocco.
Case Study
World Journal of Advanced Research and Reviews, 2023, 18(02), 731–735
Article DOI: 10.30574/wjarr.2023.18.2.0849
Publication history:
Received on 01 April 2023; revised on 13 May 2023; accepted on 15 May 2023
Abstract:
Background: A 17 alpha-hydroxylase deficiency (17OHD) is a rare form of congenital adrenal hyperplasia (CAH). Congenital adrenal hyperplasia (CAH) is a group of disorders resulting from defect of one of enzymes necessary for biosynthesis of cortisol.
Case: A 33-year-old female suffered from 17OHD. She presented with primary amenorrhea, lack of secondary sexual characteristics, and hypertension complicated by ruptured cerebral aneurysm. Laboratory tests showed hypokalemia, low levels of androgens (testosterone and dehydroepiandrosterone), corticosteroid, and high levels of adrenocorticotropic hormone and progesterone. The clinical manifestations, imaging and laboratory results appeared to be consistent with a diagnosis of CAH in the patient, due to the observed 17α‑hydroxylase deficiency.
Conclusion: 17OHD is a rare disease associated with primary amenorrhea and hypertension. This case shows the importance of vital signs measurement, medical history and commitment to a systematic approach.
Keywords:
Congenital Hyperplasia; Hypertension; Primary amenorrhea; 17 alpha hydroxylase-deficiency
Full text article in PDF:
Copyright information:
Copyright © 2023 Author(s) retain the copyright of this article. This article is published under the terms of the Creative Commons Attribution Liscense 4.0