46,XY DSD Due to Impaired Androgen Production

    April 2010 in “ Baillière's best practice and research in clinical endocrinology and metabolism/Baillière's best practice & research. Clinical endocrinology & metabolism ”
    Berenice B. Mendonca, Elaine Maria Frade Costa, Alicia Belgorosky, Marco A. Rivarola, Sorahia Domenice
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    TLDR Impaired androgen production in 46,XY DSDs causes ambiguous genitalia and requires long-term care.
    Disorders of androgen production in 46,XY DSDs were due to issues in testosterone biosynthesis and secretion by foetal Leydig cells or the conversion of testosterone to DHT. Leydig cell hypoplasia led to insufficient testosterone secretion, causing failed virilisation. Enzymatic defects in the synthesis pathway from cholesterol to DHT also caused these disorders. Mutations in genes coding for these enzymes resulted in variable phenotypes, often detected at birth due to ambiguous genitalia, though sometimes diagnosis was delayed until later in life. Long-term care by multidisciplinary teams was essential for managing these patients.
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