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G. Sokołowski

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Open access Aug 2026

P3 - ECE_1584 - A novel homozygous mutation of CYP17A1 gene in a 20-year old 46, XY phenotypical male with hypergonadotropic hypogonadism and gynecomastia

The findings demonstrate that residual CYP17A1 activity can mask the classic phenotype, and 17-OHD should remain in the differential diagnosis of young men with unexplained hypogonadism, particularly when any features of disordered sex development are present.

Karolina Kucharczyk, Anna Nogieć, G. Sokołowski et al. · 0 citations

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