XX males without SRY gene and with infertility.
The case of a 28 year old male with normal male phenotype, in whom repeated seminal analysis showed complete azoospermia, is presented. Peripheral blood culture for chromosome studies revealed 46 chromosomes with XX constitution. Polymerase chain reaction (PCR) analysis of genomic DNA failed to detect the presence of the sex-determining region of the Y chromosome (SRY). A literature review of all SRY-negative XX males with normal male phenotype showed that this case is the sixth reported case but the first to be diagnosed during the investigations of infertility. The frequency, aetiology and diagnosis of this rare syndrome are also reviewed.
Abusheikha
N
N
Bourn Hall Clinic Bourn Cambridge CB3 7TR UK. abusheikha@doctors.org.uk
Lass
A
A
Brinsden
P
P
D000328:Adult; D001773:Blood Cells / Q000502:physiology*; D004268:DNA-Binding Proteins / Q000235:genetics*; D006801:Humans; D007248:Infertility, Male / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D009687:Nuclear Proteins; D009845:Oligospermia / Q000235:genetics; D051876:Sex-Determining Region Y Protein; D014157:Transcription Factors
D004268:DNA-Binding Proteins; D009687:Nuclear Proteins; C497745:SRY protein, human; D051876:Sex-Determining Region Y Protein; D014157:Transcription Factors