Infertility in a new 46, XX male with positive SRY confirmed by fluorescence in situ hybridization: a case report.

Abstract

The 46, XX male syndrome (de la Chapelle syndrome or 46, XX testicular disorder of sex development) is a rare form of sex reversal with complex mechanisms leading to a large spectrum of clinical manifestations ranging from ambiguous genitalia in the newborn to normal male phenotype. Therefore, diagnosis is established either pre- or early postnatal, or in adult life due to male infertility. In some cases, subtle clinical signs during childhood and puberty may be overlooked. A 28-year-old married man presented with azoospermia without erectile dysfunction. Between 9-14 years he was examined for the small testes and under-masculinized external genitalia but the diagnosis was not further clarified. At presentation, hormonal laboratory evaluation revealed hypergonadotropic hypogonadism. Chromosome analysis showed a 46, XX karyotype and translocation of SRY (testis-determining factor) from chromosome Y to chromosome X was identified by fluorescence in situ hybridization (FISH). Despite early subtle clinical signs of abnormal sexual development in this new 46, XX male syndrome, medical investigations were triggered by infertility.

Cite this paper

@article{Pepene2008InfertilityIA, title={Infertility in a new 46, XX male with positive SRY confirmed by fluorescence in situ hybridization: a case report.}, author={Carmen Emanuela Pepene and Ioan Coman and Dan Mihu and Mariela Sanda Militaru and Ileana Duncea}, journal={Clinical and experimental obstetrics & gynecology}, year={2008}, volume={35 4}, pages={299-300} }