When Acne, Hirsutism, and Menstrual Irregularities Are More Than PCOS

    April 2020 in “ Journal of the Endocrine Society ”
    Paola Ríos, Gabriela Zúñiga, Alex Manzano
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    TLDR Non-classic congenital adrenal hyperplasia (NCCAH) can mimic PCOS and requires genetic testing for proper diagnosis and treatment.
    This case study highlighted the importance of recognizing non-classic congenital adrenal hyperplasia (NCCAH) as a cause of hyperandrogenism, which can mimic polycystic ovarian syndrome (PCOS). A 23-year-old female presented with symptoms including irregular periods, frontal hair loss, weight gain, acne, and hirsutism. Elevated testosterone and other hormone levels confirmed NCCAH due to 21-hydroxylase deficiency, specifically the V281L mutation in the CYP21A2 gene. Treatment with oral contraceptives and spironolactone improved her symptoms. The study emphasized the need for molecular genetic analysis and genetic counseling for patients and their families, as family history is crucial for detection and management of NCCAH.
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