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.