Fertility and sterility · 2005
A 46,XX SRY-negative man with complete virilization and infertility as the main anomaly.
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Valetto Angelo, Bertini Veronica, Rapalini Erika, Simi Paolo
Аннотация
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.
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.