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.


METHODS
Case report.


METHODS
Molecular and Cytogenetic Unit in a University Hospital.


METHODS
A 35-year-old man with complete masculinization who referred to our institution because of a history of several years of infertility.


METHODS
Lymphocytic karyotype and genetic counseling.


METHODS
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.


RESULTS
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.


CONCLUSIONS
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.
Valetto
Angelo
A
Divisione di Citogenetica e Genetica Molecolare, Azienda Ospedaliera Universitaria Pisana, Pisa, Italy.
Bertini
Veronica
V
Rapalini
Erika
E
Simi
Paolo
P
D000328:Adult; D041321:Chromosomes, Human, X; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D023961:Gonadal Dysgenesis, 46,XX / Q000235:genetics*; D006801:Humans; D007248:Infertility, Male / Q000209:etiology*; D008297:Male; D009687:Nuclear Proteins / Q000235:genetics*; D051876:Sex-Determining Region Y Protein; D014157:Transcription Factors / Q000235:genetics*; D014770:Virilism
D004268:DNA-Binding Proteins; D009687:Nuclear Proteins; C497745:SRY protein, human; D051876:Sex-Determining Region Y Protein; D014157:Transcription Factors