Ammar Rasha, Ramadan Ahmad
Department of Obstetrics and Gynecology, Tishreen Hospital, Damascus, Syrian Arab Republic.
Department of Cardiology, Tishreen Hospital, Damascus, Syrian Arab Republic.
Oxf Med Case Reports. 2020 Dec 5;2020(12):omaa108. doi: 10.1093/omcr/omaa108. eCollection 2020 Dec.
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.
17α-羟化酶缺乏症（17OHD）是先天性肾上腺皮质增生症（CAH）的一种罕见形式。在本文中，我们讨论了一例8岁女孩的病例，该女孩出现上呼吸道感染症状，并有因疲劳和脱水住院的病史。她被偶然发现患有高血压和低钾血症。经过内分泌检查，她的生化检查显示：代谢性碱中毒、皮质醇水平低、促肾上腺皮质激素（ACTH）和促卵泡激素（FSH）水平高，具有正常女性表型和（46,XY）核型。这些发现导致诊断为17OHD，氢化可的松处方使高血压和低钾血症得到缓解，从而证实了诊断。该病例显示了生命体征测量、病史以及采用系统方法的重要性。
