ABSTRACT 46,XX testicular disorder of sex development (DSD) is a rare condition characterised by discordance between chromosomal sex and phenotypic sex, most commonly caused by translocation of the sex-determining region Y (SRY) gene onto the X chromosome. We report a case of a 15-day-old neonate presenting with ambiguous genitalia, hypospadias and a non-palpable left gonad. Hormonal evaluation showed elevated gonadotropin levels for age, while anti-Müllerian hormone and total testosterone levels were within normal neonatal reference ranges. Conventional cytogenetic analysis revealed a uniform 46,XX karyotype in all metaphases examined. Fluorescence in situ hybridisation (FISH) analysis using an SRY-specific probe demonstrated translocation of the SRY gene to the short arm of one X chromosome, consistent with t(X;Y)(p22.3;p11.3), with no evidence of Yq material. This case underscores the diagnostic value of FISH in detecting cryptic SRY translocations and highlights the importance of molecular cytogenetic evaluation in neonates presenting with disorders of sex development.
Nidhi et al. (Thu,) studied this question.