[Male infertility with chromosomal abnormalities. II. XX-male syndrome]

We report two cases of the XX-male syndrome, and review the literature. The first case was a 31-year-old married man, a welder, complaining of infertility. His height was 158 cm, weight 82 kg and distance of extended hand 155 cm. The external genitalia showed a normal male type, but bilateral small testes and gynecomastia were noticed. The second case was a 32-year-old married man, a shopkeeper, complaining of infertility. His height was 165 cm, weight 60 kg and distance of extended hand 167 cm. No gynecomastia was noted. The external genitalia showed a normal male type, but bilateral small testes were noticed. In each case, azoospermia was identified in semen analysis. Urethrography revealed the prostatic utricle in the second case. The testicular biopsy specimens revealed hyalinization of seminiferous tubules and proliferation of Leydig cells. X chromatin was positive in buccal smears, and Y chromatin negative in cultured lymphocytes. Chromosomal analysis showed 46, XX karyotype in the first case and 46, XXp+ in the second case. H-Y antigen was positive in each case. Basal serum levels of LH and FSH were moderately elevated and the serum testosterone level was low. Serum levels of PRL, TSH, estradiol, GH, T3 and T4 were normal. An impaired response by testicular Leydig cells to hCG was observed. The LH and FSH responses to LH-RH were almost normal. Clomiphene citrate administration resulted in a decrease in the serum testosterone and gonadotropins levels. These results indicate hypergonadotropic hypogonadism secondary to testicular failure in both XX-males. Twenty-six cases of the XX-male syndrome have been cited in the Japanese literature. The clinical features and etiology of this syndrome are discussed.