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.