Gonadal dysgenesis in phenotypic female subjects. A review of eighty-seven cases, with cytogenetic studies in fifty-three.

Abstract The present study was undertaken to discover any correlations that may exist between specific karyotypes and phenotypic variations of gonadal dysgenesis. Eighty-seven cases of gonadal dysgenesis in phenotypic female subjects were reviewed. Fifty-three patients were studied cytogenetically. Twenty-eight patients had an XO karyotype; the remaining twenty-five were divided into small groups characterized by various abnormalities of one of the sex chromosome pairs or by mosaicism. Because of the small number of patients in each of the categories in the non-XO karyotype group, statistically valid comparisons were not possible. Eight XO/XX patients comprising the largest subgroup of the non-XO karyotypes were compared with the XO patients in an attempt to delineate the influence of the XX component on the Turner phenotype. The XX component apparendy had little modifying effect on short stature in this series but did have some effect on gonadal development. Spontaneous menstruation and breast development occurred in 29 per cent of the XO/XX patients but in none of the XO group. No correlation between clitoromegaly and karyotype could be made since a Y chromosome was identified in only one patient. Cardiovascular anomalies occurred with greater frequency in the XO group; aortic coarctation occurred exclusively in this group. Renal anomalies were evenly divided, whereas mental retardation was seen most frequently in patients with an isochromosome X component.