Genotype-phenotype correlation in 46, XY females

ABSTRACT

XY females are phenotypically females, but with XY karyotype. Our aim was to correlate the genotype with phenotype in cytogenetically confirmed 46 XY females. Retrospective study of a thirty year data Division of Human Genetics, St. John's Medical College, Bangalore, India Six hundred and twenty consecutively referred individuals with primary amenorrhea Phenotype features and XY female characteristics Fifty-seven [9.2%] cases were identified with 46, XY karyotype. Primary features Uterus was absent in 33/47 [70.2%] cases and gonads absent in 18/34 [52.9%]. Complete female external genitalia was observed in 36/48 [75%], ambiguous genitalia with clitoromegaly in 12/57 [21.1%], normal vagina in 13/48 [27.1%], blind in 27 [56.3%] and absent in 8 [16.7%] cases. In secondary features, normal breast was seen in 23/54 [42.6%], hypoplastic in 16 [29.6%] and absent in 15 [27.8%] cases. Axillary and pubic hair was normal in 6 [11.1%] and poorly developed in 48 [88.9%]. Twelve [85.8%] were born to consanguineous parents and 8 had first cousin relationship [66.7%]. The highly significant features associated with consanguinity were normal axillary hair, ovotestis, absent vagina and significant features were hypoplastic / normal pubic hair, absent gonads and clitoromegaly. The observed differences in the percentage calculation were because of the overlapping in features as well as the available information in the records. Genotype and phenotype correlation revealed that in primary features, absence of mullerian derivatives and gonads were important whereas in secondary features, axillary and pubic hair was poorly developed