Elevated DHEAS and Acute Hair Loss in an Adult Male with Trichorhinophalangeal Syndrome Type 1: A Case of Male PCOS

    November 2022 in “ Journal of the Endocrine Society ”
    Anna Zenno, Andrea Cohen, Holly E. Babcock, Amy Moon, Prasanna Santhanam, Jay Desai, Elizabeth Joyal, Irini Manoli, Deborah P. Merke
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    TLDR A 21-year-old male with a rare genetic disorder experienced sudden hair loss and high DHEAS levels, likely due to a condition similar to PCOS, usually seen in women.
    The document presents a case of a 21-year-old male with Trichorhinophalangeal Syndrome Type 1 (TRPS1), a rare genetic disorder, who experienced acute hair loss and showed biochemical evidence of hyperandrogenism. The patient had elevated DHEAS levels of 1065.7 mcg/dL (reference range: 238.4-539.3) and normal testosterone levels. He also had symptoms like acne, headaches, striae, and difficulty losing weight. Despite negative results for Cushing's disease, congenital adrenal hyperplasia, and adrenal tumor, the patient's elevated DHEAS is likely due to male PCOS, a condition previously observed in male first-degree relatives of patients with PCOS. The study suggests that genetic susceptibility to PCOS and rare genetic syndromes should be considered in young men showing clinical and biochemical evidence of hyperandrogenism.
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