A 46,XX SRY-negative man with complete virilization and infertility as the main anomaly

Abstract

To report a case of a 46,XX SRY-negative man with a male phenotype and azoospermia. Case report. Molecular and Cytogenetic Unit in a University Hospital. A 35-year-old man with complete masculinization who referred to our institution because of a history of several years of infertility. Lymphocytic karyotype and genetic counseling. Peripheral blood metaphases were analyzed by standard G-banding and Q-banding. Fluorescent in situ hybridization (FISH) and polymerase chain reaction (PCR) analyses were performed. Semen analysis showed azoospermia. Chromosome analysis revealed a 46,XX karyotype; molecular and cytogenetic analyses excluded the presence of SRY (the sex-determining region of the Y chromosome) gene. This case is one of the rare patients reported in the literature in whom testicular differentiation and a complete virilization in a 46,XX chromosomal constitution does not account for a translocation of the SRY gene to the X chromosome or to the autosomes. This finding suggests that other genes downstream from SRY, not yet identified, play an important role in sex determination.