title: A case of sex reversal syndrome with sex-determining region (XX male).
abstract: We examined a 32-year-old man with a 4-year history of infertility. The man's sex life, male hair pattern, and penis were normal, and he had no history of erection problems. Left and right testicular volumes were 2 ml and 3 ml, respectively. Semen analysis showed no sperm. The endocrine panel revealed increased serum luteinizing hormone and follicle-stimulating hormone levels, and a normal serum testosterone level. A testicular biopsy demonstrated that both Leydig cell and Sertoli cell hyperplasia were present, and that no germ cells were found in the tubules. A chromosome analysis done on the peripheral blood lymphocytes revealed a karyotype of 46, XX. We identified the sex-determining region, Y, by polymerase chain reaction using Y-specific probes in this patient. The diagnosis was XX male.
authors.affiliation: Department of Urology, Nagoya University School of Medicine, Japan.
authors.forename: M
authors.initials: M
authors.lastname: Yamamoto
authors.forename: K
authors.initials: K
authors.lastname: Yokoi
authors.forename: S
authors.initials: S
authors.lastname: Katsuno
authors.forename: H
authors.initials: H
authors.lastname: Hibi
authors.forename: K
authors.initials: K
authors.lastname: Miyake
mesh_terms: D000328:Adult; D012734:Disorders of Sex Development; D006801:Humans; D007621:Karyotyping; D008297:Male; D016133:Polymerase Chain Reaction; D014960:X Chromosome