hrp0094p2-417 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

A case report of Non-syndromic 46, XX testicular DSD presenting as a genital ambiguity - Clinical, molecular and cytogenetic analysis

Behera Kishore , behera Smruti , Sahoo Subrat

Background: To demonstrate the etiology of 46, XX sex reversal by investigating the clinical feature and its relationships with chromosomal karyotype and the SRY (sex-determining region Y) gene.Methods: A child with genital ambiguity with hypospadias and bifid scrotum consulted to our endocrine OPD for further management. Clinical data was noted, and Karyotype analysis of G-banding in lymphocytes and Fluorescence in situ hybridization (FISH) wer...