title: Familial idiopathic hypoparathyroidism, sensorineural deafness and renal dysplasia.
abstract: We describe a 27-year-old woman with familial idiopathic hypoparathyroidism, bilateral sensorineural deafness and right renal aplasia. There was a family history of deafness in her father and two other family members with sensorineural deafness, one of whom had hypoparathyroidism. To our knowledge, there have been four previous reports of idiopathic hypoparathyroidism associated with sensorineural deafness and renal dysplasia. The clinical features were not identical to any of the four previous reports. Although no chromosome abnormalities were present in the patient using standard trypsin G-banding analysis, we speculate that some common genetic mutation caused hypoparathyroidism, sensorineural deafness and renal dysplasia.
authors: Department of Internal Medicine, Hirakata City Hospital, Osaka.
authors: S
authors: S
authors: Ishida
authors: H
authors: H
authors: Isotani
authors: K
authors: K
authors: Kameoka
authors: T
authors: T
authors: Kishi
mesh_terms: D000328:Adult; D001479:Basal Ganglia / Q000473:pathology; D002114:Calcinosis / Q000473:pathology; D005260:Female; D006312:Hearing Loss, Bilateral / Q000235:genetics; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006801:Humans; D006887:Hydroxycholecalciferols / Q000627:therapeutic use; D006996:Hypocalcemia / Q000188:drug therapy / Q000209:etiology; D007011:Hypoparathyroidism / Q000097:blood / Q000150:complications / Q000235:genetics*; D007668:Kidney / Q000002:abnormalities*; D008297:Male; D010375:Pedigree; D012640:Seizures / Q000209:etiology
chemical_list: D006887:Hydroxycholecalciferols; C008088:alfacalcidol