通过吸入依托咪酯及其类似物获得的 11β- 羟化酶缺乏症:先天性肾上腺增生症的模拟物

JCEM case reports Pub Date : 2024-11-20 eCollection Date: 2024-12-01 DOI:10.1210/jcemcr/luae207
Choi Yee Lau, Yee Ting Tommy Cheung, Tsz Mo Andrea Han, Chun Ming Jeremy Chung, Yeow Kuan Chong, Pak Lam Sammy Chen
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引用次数: 0

摘要

电子香烟的普及引起了人们对健康的极大关注。我们描述了一例 35 岁女性长期使用电子香烟的病例。她出现继发性闭经,并有明显的高雄激素特征,包括寻常痤疮、男性型脱发、声音加深和多毛。初步生化检查显示,该患者存在 11β- 羟化酶缺乏症。然而,基因分析并未显示任何 CYP11B1 基因突变的证据。该患者因长期使用含有依托咪酯和丙氧基酸/异丙氧基酸的电子烟油(结构上类似于依托咪酯的化合物)而表现出类固醇生成紊乱的症状。临床上的高度怀疑以及对药理学和病理生理学的正确理解有助于确诊本病例。
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Acquired 11β-hydroxylase Deficiency by Inhaled Etomidate and its Analogues: A Mimic of Congenital Adrenal Hyperplasia.

The increase in popularity of electronic cigarettes arouses great health concern. We describe a case of a 35-year-old female with chronic use of electronic cigarettes. She presented with secondary amenorrhea and prominent features of hyperandrogenism, including acne vulgaris, male-pattern alopecia, deepening of voice, and hirsutism. The initial biochemical workup revealed a profile indicating 11β-hydroxylase deficiency. However, genetic analysis did not show any evidence of CYP11B1 mutation. This patient manifested the florid signs of disrupted steroidogenesis brought by chronic use of electronic cigarette oil containing etomidate and propoxate/isopropoxate, which are compounds structurally resembling etomidate. High clinical suspicion and sound understanding of the pharmacology and pathophysiology were instrumental in establishing the diagnosis for our present case.

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