title: H-Y intermediate phenotype in male pseudohermaphroditism.
abstract: A child with ambiguous genitalia was born after an uncomplicated pregnancy. Laparotomy revealed intraabdominal hypoplastic testes containing normal appearing Leydig cells; germ cells were present in the left gonad, not in the right. The karyotype was 46,XY in blood leukocytes and in fibroblasts cultured from the gonads; there was no evidence of mosaicism. Endocrinologic study revealed no disorder of steroidogenesis. Androgen receptors were not studied. Serologic evaluation of blood leukocytes revealed the presence of H-Y antigen, but there are reasons to believe that less H-Y antigen was present in the cells of the patient than was present in corresponding cells from normal males. Gonadectomy and clitoral recession were performed at 3 weeks of age, and the patient was reared as a girl. We speculate that reduced expression of H-Y may have induced aberrant development of the gonads.
mesh_terms: D003366:Cosyntropin; D003601:Cytotoxicity Tests, Immunologic; D012734:Disorders of Sex Development / Q000097:blood / Q000235:genetics* / Q000276:immunology; D006182:H-Y Antigen / Q000235:genetics* / Q000276:immunology; D006801:Humans; D006854:Hydrocortisone / Q000097:blood; D007231:Infant, Newborn; D007621:Karyotyping; D007962:Leukocytes / Q000276:immunology; D008297:Male; D010641:Phenotype; D013256:Steroids / Q000097:blood
chemical_list: D006182:H-Y Antigen; D013256:Steroids; D003366:Cosyntropin; D006854:Hydrocortisone