Two cases of 46,XX male with chief complaint of infertility

摘要

We report two cases of XX male with chief complaints of infertility. Physical examination of both patients aged 42 and 29 demonstrated normal male habitus except for small testes. Semen analyses demonstrated no spermatozoa. Endocrinological examinations showed hypergonadotrophic hypogonadism. Vesiculograms demonstrated normal seminal tracts. Histological examination of their testes did not reveal germ cells; one case lacked seminiferous tubules and there was hyalinization in the seminiferous tubule in another case. Chromosomal analyses of peripheral blood demonstrated 46,XX. The sex-determining region Y gene was positive and DAZ (deleted in azoospermia) gene was negative in both cases.