46XX male; report of case
Okuyama, A.; Kondo, N.; Namiki, M.; Nakamura, M.; Sonoda, T.; Takasugi, Y.; Sakamoto, H.
Hinyokika Kiyo. Acta Urologica Japonica 32(10): 1539-1542
1986
ISSN/ISBN: 0018-1994 PMID: 3551565 Document Number: 276516
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.