title: Gonadal dysfunction in patients with ataxia telangiectasia.
abstract: Two males and three females with ataxia telangiectasia aged from 4 6/12 to 23 years were subjected to an i.v. LH-RH test. All were found to have elevated basal levels of FSH and three had elevated levels of LH. In all the response of FSH to LH-RH was supranormal. In the pubertal and adult females the basal levels of estradiol were low. The laboratory and clinical findings in these patients as well as data reported by others indicated that the primary gonadal failure is an integral part of AT.
mesh_terms: D000293:Adolescent; D000328:Adult; D001260:Ataxia Telangiectasia / Q000503:physiopathology*; D002648:Child; D002675:Child, Preschool; D004700:Endocrine System Diseases / Q000150:complications*; D004958:Estradiol / Q000097:blood; D005260:Female; D005640:Follicle Stimulating Hormone / Q000097:blood; D007987:Gonadotropin-Releasing Hormone; D006066:Gonads / Q000503:physiopathology*; D006801:Humans; D007986:Luteinizing Hormone / Q000097:blood; D008297:Male
chemical_list: D007987:Gonadotropin-Releasing Hormone; D004958:Estradiol; D007986:Luteinizing Hormone; D005640:Follicle Stimulating Hormone