XX gonadal dysgenesis and XY gonadal dysgenesis Article

cited authors

  • Simpson, JL; Martin, AO; Sarto, GE

fiu authors


  • Gonadal dysgenesis is usually associated with absence of a sex chromosome or structural rearrangements of the X or Y chromosomes, but occasionally individuals with gonadal dysgenesis appear to have 46,XX or 46,XY chromosomal complements. Both XX gonadal dysgenesis and XY gonadal dysgenesis show segregation patterns consistent with a single locus mode of inheritance; however, the mode of inheritance and certain clinical aspects of these disorders remain uncertain. We have analyzed over 100 cases of each of these disorders; some cases were reported previously, whereas some are unreported sporadic cases or familial aggregates investigated either by ourselves or by colleagues. Extensive cytogenetic data suggest that in neither XX gonadal dysgenesis nor XY gonadal dysgenesis are monosomic lines present. We examined (1) the phenotype associated with XX gonadal dysgenesis and with XY gonadal dysgenesis, (2) the likelihood that clinical heterogeneity exists among individuals with either XX gonadal dysgenesis or XY gonadal dysgenesis, and (3) the most likely modes of inheritance. We have tabulated 15 familial aggregates of XX gonadal dysgenesis and 14 aggregates of XY gonadal dysgenesis. Our analyses indicate that XX gonadal dysgenesis is most likely inherited in autosomal recessive fashion; XY gonadal dysgenesis appears to be inherited as an X linked recessive disorder, but male limited autosomal dominant inheritance cannot be excluded. In both conditions clinical and perhaps genetic heterogeneity may exist.

publication date

  • January 1, 1976


  • No. 397