title: Primary infertility in a phenotypic male with 46XX chromosomal constitution.
abstract: The case of a 32 year old male with normal male adrenarchal hair pattern, bilateral gynaecomastia, a small phallus, hypospadias and bilateral poorly developed testes presenting with primary infertility secondary to azoospermia and a pelvic cyst is described. Repeated chromosomal analysis showed 46XX chromosomal constitution. Laparotomy revealed a simple cyst between the urinary bladder and the rectum. XX male syndrome is a rare cause of male infertility. The majority of cases is due to interchange of a fragment of the short arm of the Y chromosome containing the region that encodes the testes determining factor with the X chromosome. The presence of a simple cyst in the anatomical location of the uterus to our knowledge has not been reported in the literature.
authors.affiliation: Department of Medicine, Universiti Kebangsaan Malaysia, Kuala Lumpur.
authors.forename: T T
authors.initials: TT
authors.lastname: Tan
authors.forename: B A
authors.initials: BA
authors.lastname: Khalid
mesh_terms: D000328:Adult; D003560:Cysts / Q000209:etiology; D006177:Gynecomastia / Q000209:etiology; D006801:Humans; D007021:Hypospadias / Q000209:etiology; D007248:Infertility, Male / Q000209:etiology*; D008297:Male; D010388:Pelvis; D012729:Sex Chromosome Aberrations / Q000235:genetics; D014960:X Chromosome