A Mimic of Congenital Adrenal Hyperplasia
Choi Yee Lau, Yee Ting Tommy Cheung, Tsz Mo Andrea Han, Chun Ming Jeremy Chung, Yeow Kuan Chong, Pak Lam Sammy Chen
JCEM Case Reports, Volume 2, Issue 12, December 2024, luae207
https://doi.org/10.1210/jcemcr/luae207
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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