46XX male; report of case.
Chromosomal studies on a prepubertal 7-year-old boy with a normal male phenotype except for undescended testes showed a 46XX normal female karyotype. An H-Y antigen assay done at the same time on peripheral blood was positive in a titer similar to that of normal male subjects. Although the microscopic findings for both testes were normal, hypergonadotropic hypogonadism was suggested from both LH-RH and hCG stimulation tests.
D002648:Child; D006063:Chorionic Gonadotropin; D007987:Gonadotropin-Releasing Hormone; D006182:H-Y Antigen / Q000235:genetics; D006801:Humans; D007006:Hypogonadism / Q000175:diagnosis; D007621:Karyotyping; D008297:Male; D010641:Phenotype; D012729:Sex Chromosome Aberrations / Q000235:genetics*
D006063:Chorionic Gonadotropin; D006182:H-Y Antigen; D007987:Gonadotropin-Releasing Hormone