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

OBJECTIVE

To report a case of a 46,XX SRY-negative man with a male phenotype and azoospermia.

DESIGN

Case report.

SETTING

Molecular and Cytogenetic Unit in a University Hospital.

PATIENT(S): A 35-year-old man with complete masculinization who referred to our institution because of a history of several years of infertility.

INTERVENTION(S): Lymphocytic karyotype and genetic counseling.

MAIN OUTCOME MEASURE(S): 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.

RESULT(S): 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.

CONCLUSION(S): 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.