title: Williams syndrome associated with chronic renal failure and various endocrinological abnormalities.
abstract: A 31-year-old man who had been under regular hemodialysis for 6 months was diagnosed as Williams syndrome (WS) by fluorescence in situ hybridization (FISH) chromosomal analysis. The association of WS and chronic renal failure (CRF) is only rarely encountered. Endocrinological examinations revealed hypergonadotropic hypogonadism. Prolonged and exaggerated responses of adrenocorticotropin (ACTH) to insulin-induced hypoglycemia and corticotropin releasing hormone (CRH) were also noted. While most of the endocrinological abnormalities observed in this patient could be attributed to altered endocrine circumstances in CRF, some findings stand in contrast. Furthermore, the testicular biopsy specimen showed severe hypospermatogenesis. Endocrine disorders observed in this patient may be at least in part, responsible for various clinical features underlying WS.
authors.affiliation: Second Department of Internal Medicine, Jikei University School of Medicine, Tokyo.
authors.forename: M
authors.initials: M
authors.lastname: Ichinose
authors.forename: K
authors.initials: K
authors.lastname: Tojo
authors.forename: K
authors.initials: K
authors.lastname: Nakamura
authors.forename: H
authors.initials: H
authors.lastname: Matsuda
authors.forename: G
authors.initials: G
authors.lastname: Tokudome
authors.forename: M
authors.initials: M
authors.lastname: Ohta
authors.forename: S
authors.initials: S
authors.lastname: Sakai
authors.forename: O
authors.initials: O
authors.lastname: Sakai
mesh_terms: D000328:Adult; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics*; D004549:Elastin / Q000235:genetics; D006728:Hormones / Q000097:blood; D006801:Humans; D007006:Hypogonadism / Q000209:etiology*; D007030:Hypothalamo-Hypophyseal System / Q000503:physiopathology; D017404:In Situ Hybridization, Fluorescence; D007328:Insulin; D007676:Kidney Failure, Chronic / Q000209:etiology*; D008297:Male; D010908:Pituitary Hormones, Anterior / Q000378:metabolism; D010913:Pituitary-Adrenal System / Q000503:physiopathology; D006435:Renal Dialysis; D013737:Testis / Q000473:pathology; D014511:Uremia / Q000150:complications / Q000473:pathology; D018980:Williams Syndrome / Q000150:complications* / Q000235:genetics / Q000503:physiopathology
chemical_list: D006728:Hormones; D007328:Insulin; D010908:Pituitary Hormones, Anterior; D004549:Elastin