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Gonadal dysgenesis


Definition

  • Disorder of sex development; congenital developmental defect of one or both gonads and reproductive organs due to either structural or numerical anomalies of the sex chromosomes or mutations in the genes involved in the gonadal development

  • Originally referred to as Turner syndrome, but it is now applied to other conditions (a spectrum of disorders with ambiguous genitalia, persistent Müllerian duct structures, Wolffian duct derivatives and karyotypes having a Y chromosome) as well.

Clinical features

Epidemiology

  • Second-most frequent cause of ambiguous genitalia in newborn

  • Pure gonadal dysgenesis can be caused by mutations and deletions in the genes involved in testis development such as SRY (the sex-determining region of Y chromosome), NR5A1, NROB1, SOX9, WNT4, WT1, DMRT1, CBX2, SF1, and DHH that may result in streak testes and lack of testosterone or anti-Müllerian hormone production

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