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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    Studysummary This review discusses 46,XY disorders of sex development caused by defects in androgen production and highlights the need for long-term care from experienced multidisciplinary teams, but it reports no new clinical findings.
    Our plain-language summary. Not medical advice or a treatment recommendation. Consult a qualified healthcare professional before changing treatment. Full disclaimer
    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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