Acquired 11β-Hydroxylase Deficiency by Inhaled Etomidate and Its Analogues: A Mimic of Congenital Adrenal Hyperplasia

    November 2024 in “ JCEM Case Reports
    Chin-Pang Lau, YT Cheung, TM Han, C. T. Y. Chung, Yeow Kuan Chong, Sammy Pak Lam Chen
    A 35-year-old female with chronic electronic cigarette use presented with symptoms resembling congenital adrenal hyperplasia, such as secondary amenorrhea, acne, male-pattern alopecia, voice deepening, and hirsutism. Biochemical tests suggested 11β-hydroxylase deficiency, but genetic tests showed no <i>CYP11B1</i> mutation. The symptoms were linked to disrupted steroidogenesis due to inhaled etomidate and its analogues in the e-cigarette oil. This case highlights the importance of recognizing the potential endocrine effects of substances in electronic cigarettes.
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