Sry gene detection in gonads of intersex patients using FISH

Abstract

A candidate gene for sex determination was localized within a 35 kb region of the Y chromosome immediately adjacent to the pseudoautosomal boundary. Here, we describe a study of Sry detection in the gonads of intersex patients including 5 male pseudohermaphrodite (MPH), 4 XX true hermaphrodite (TH) and each 1 mixed gonadal dysgenesis (MGD) and XX sex reversal, and in the clitoris of 3 female pseudohermaphrodite (FPH) by fluorescent in situ hybridization (FISH). Sry gene was observed in all cases of MPH and each case of MGD and sex reversal in contrast to bare expression in all cases of FPH and most of TH. To our knowledge, the Sry gene itself functions testicular determination in almost all intersex cases except true hermaphrodite, a distinguished type of intersex in a different pathogenesis. In addition, FISH might be useful to detect the translocated Sry gene and localize the signal with ease.