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#XX males

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XX males occur due to presence of:

XX male syndrome occurs frequently due to aberrant recombination during paternal meiosis where SRY-containing segment of short arm Y translocates onto distal Xp or autosome. Offspring inheriting recombined chromosome are karyotypically XX but carry functional SRY capable of initiating Sox9 activation and testis determination despite absence of other Y genes such as AZF needed for spermatogenesis. Individuals develop phenotypic males with testes, male internal ducts and external genitalia though typically azoospermic and sterile. Incidence around 1 in 20,000 males reveals sufficiency of SRY for gonadal male development.

Ref: Gilbert, Developmental Biology, 12th ed., Chapter 6: XX males due to SRY translocation.