Hormonal & H-Y antigen studies in 49, 4XY syndrome
Mathews, A.R.; Verma, I.C.
Indian Journal of Medical Research 85: 198-201
1987
ISSN/ISBN: 0019-5340 PMID: 3110059 Document Number: 295833
Assay of serum follicle stimulating hormone, luteinising hormone, and testosterone in response to intra muscular injection of human chorionic gonadotrophin in a 6 yr old boy with 49, XXXXY karyotype and mental retardation, indicated that the patient suffered from hypergonadotrophic hypogonadism with testicular atrophy. The minor histo-compatibility antigen (H-Y) studies revealed significantly low H-Y antigen titres on peripheral blood lymphocytes as compared to normal males of the same age. This suggests the presence of a gene on the X chromosome that controls H-Y antigen levels.