Androgen Biosynthesis and Gene Defects

    November 2014 in “ Elsevier eBooks ”
    Adina F. Turcu, Richard J. Auchus
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    TLDR Gene mutations can cause problems in male genital development.
    The article discussed the critical role of dihydrotestosterone in the formation of male external genitalia during 8–12 weeks of gestation, driven by chorionic gonadotropin-stimulated Leydig cells converting cholesterol to testosterone and then to dihydrotestosterone. It highlighted how mutations in genes encoding enzymes, cofactor proteins, receptors, and stimulatory hormones involved in this process could lead to congenital anomalies in androgen production and male pseudo-hermaphroditism, detailing the clinical and biochemical features of these genetic mutations.
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