Steroid Sulfatase Deficiency and Androgen Activation Before and After Puberty

    March 2016 in “ The Journal of Clinical Endocrinology & Metabolism ”
    Jan Idkowiak, Angela E. Taylor, Sandra Subtil, Donna O’Neil, Raymon Vijzelaar, Renuka Dias, Rakesh Amin, Timothy Barrett, Cedric Shackleton, Jeremy Kirk, Celia Moss, Wiebke Arlt
    TLDR In STSD patients, the body compensates for low androgen levels by increasing another enzyme's activity.
    In patients with Steroid Sulfatase Deficiency (STSD), increased 5α-reductase activity compensated for reduced androgen generation by enhancing peripheral androgen activation. In healthy controls, a prepubertal surge in the serum DHEA to DHEAS ratio was observed, which was absent in STSD patients. This surge indicated up-regulated STS activity before puberty, suggesting a mechanism for tissue-specific androgen activation in preparation for the significant changes in androgen production during puberty.
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