Author(s): J.E. Waghmare, S.K. Daf, P.D. Kamble, A.K. Pal
A girl aged 16 years with ambiguous genitalia was referred for confirmation of sex by karyotyping. She had an enlarged phallus, accessory phallic urethra and bicornuate uterus. The vaginal and urethral openings were absent and the perineum was fused like the males. She uses to defecate, micturate and menstruate through the only opening at the anal site i.e. the persistent cloaca. Chromosomal analysis confirms normal female, Karyotype-46, XX. The case is presented with its genetic, hormonal and embryological etiogenesis.