A minority of 46,XX true hermaphrodites are positive for the Y-DNA sequence including SRY

✍ Scribed by Ken McElreavey; Raphaël Rappaport; Eric Vilain; Nacer Abbas; François Richaud; Stéphen Lortat-Jacob; Roland Berger; Maryvonne LeConiat; Chafika Boucekkine; Kiran Kucheria; Samia Temtamy; Claire Nihoul-Fekete; Raja Brauner; Marc Fellous

• Book ID: 104666248
• Publisher: Springer
• Year: 1992
• Tongue: English
• Weight: 549 KB
• Volume: 90
• Category: Article
• ISSN: 0340-6717
• DOI: 10.1007/bf00210754

✦ Synopsis

A total of 30 cases of 46,XX true hermaphroditism was analysed for Y-DNA sequences including the recently cloned gene for male testis-determination SRY. In 3 cases, a portion of the Y chromosome including SRY was present and, in 2 cases, was localised, to Xp22 by in situ hybridisation. Since previous studies have shown that the majority of XX males are generated by an X-Y chromosomal interchange, the Xp22 position of the Yp material suggests that certain cases of hermaphroditism can arise by the same meiotic event. The phenotype in the 3 SRY-positive cases may be caused by X-inactivation resulting in somatic mosaicism of testis-determining factor expression giving rise to both testicular and ovarian tissues. Autosomal or X-linked mutation(s) elsewhere in the sex-determining pathway may explain the phenotype observed in the remaining 27 SRY-negative cases.