46,XY females are referred with different terms and The Consensus Statement on Management of Intersex Disorders (2006) presented a widely accepted system of nomenclature and proposed the umbrella term of Disorders of Sex Development (DSDs). The rationale of the present study, is to correlate the phenotype in cytogenetically confirmed 46,XY females specifically with the molecular genetic basis of SRY and AR genes and also with the karyotypes and the age at referral. Material and Methods: Gather data from division of Human Genetics, St. John’s Medical College, Bangalore. The data includes both cytogenetic and molecular genetics analysis of 46,XY females. Results: The classified features of the probands under 12 groups were further subdivided and then, percentage occurrence of the features was calculated as per the presence or absence of SRY gene or the mutation in AR gene versus the karyotype and age at referral. Among the total features, probands for the AR gene analysis have manifested 116 (51.3%) and in them, the probands with AR- manifested 72 (62%). The absence of the uterus was the selective feature for the AR- or AR + status in 8/8 and 4/5 probands and also between AR and SRY. On the contrary, the sparse axillary hair was the feature between SRYand SRY+ status. Probands with 46,XY karyotype have manifested 193 features (85.4%) out of which 64 were seen in AR- probands (33.3%). In AR- and with 46,XY karyotype, the absence of the uterus was noticed in the 7 probands. The features that were common in all the 4 SRY- and 5 SRY+ with 46,XY karyotype were the smooth skin, female voice, primary amenorrhea and female genitalia; but in the 4 SRY- they were the sparse axillary and pubic hair. Discussion: In the present study, it could be interpreted that with the help of genetic counseling and appropriate management and therapy, the probands with SRY+ and AR+ could be reared as male and female individuals. It is seen that the probands have manifested age related features. It is stated that, as per the presence of the uterus and other mullerian derivatives, the phenotype of adult 46,XY females could be grouped into 3 major categories. Conclusion: 46,XY females comprise a heterogenous group, which differ not only in their diagnostic category and anatomy but also in their journey through life to adult services. Medical and surgical care required.

 Keywords: XY females; Gonadal dysgenesis; Androgen insensitivity .