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Human Reproduction, Vol. 16, No. 4, 717-718, April 2001
© 2001 European Society of Human Reproduction and Embryology

XX males without SRY gene and with infertility: Case report

N. Abusheikha,1, A. Lass and P. Brinsden

Bourn Hall Clinic Bourn Cambridge CB3 7TR UK

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.

Key words: azoospermia/sex-determining region Y/XX male syndrome

1 To whom correspondence should be addressed. E-mail: abusheikha{at}doctors.org.uk


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