Genetic analysis in a true hermaphrodite: A case report

Abstract

Background: True hermaphrodite is one of the rarest variety of disorders of sexual differentiation (DSD) and represents only 5% cases of all. True hermaphroditism is characterized by the development of ovarian and testicular tissue in the same individual. Müllerian and Wolffian structures are usually present, and external genitalia are often ambiguous. The most frequent karyotype is 46, XX or various forms of mosaicism. We report a 8yrs old child of a serving soldier reared as male. He underwent orchidectomy for right undescended testis at 18 months of age. The biopsy of the testis showed presence of granulosa cells. The external genitalia were clearly identified as male penis with hypospadius. The patient reported to us for cyto-molecular analysis. Methods: 8ml of venous blood was collected, 5ml in heparin and 3ml in EDTA. The blood in heparin was processed for lymphocyte culture for 72h followed by Trypsin Giemsa banding of cells arrested in metaphase using standard protocol. Cytogenetic analysis of peripheral blood revealed mosaic karyotype with 90% 46, XX and 10% 47, XXY cell line. Genomic DNA was isolated from blood sample in EDTA and then subjected to PCR amplification of SRY gene which showed desired band at 500 bp (SRY gene). Conclusion: An early gender assessment of true hermaphrodites is of utmost importance for proper psychosocial development of child. Though phallic size is the single most important criteria for gender assessment, a multidisciplinary team of specialists in consultation with parents must assign sex of the child on basis of genitalia, gonads and genetic factors.