title: Costello syndrome and hyperinsulinemic hypoglycemia.
abstract: Costello syndrome is characterized by mental retardation, loose skin, coarse facies, skeletal abnormalities, cardiovascular abnormalities (congenital heart defects, cardiomyopathy, rhythm disturbances), and predisposition to neoplasia. Endocrine abnormalities including growth hormone deficiency, adrenal insufficiency, glucose intolerance, parathyroid adenoma with hyperprolactinemia and hypoglycemia have been described. Hypoglycemia has been documented due to growth hormone and cortisol deficiency. We report on two patients with Costello syndrome and persistent hyperinsulinemic hypoglycemia and review the endocrine manifestations of Costello syndrome. Both patients required diazoxide therapy to stop the unregulated insulin secretion and maintain normoglycemia. The mechanism of persistent hyperinsulinism in patients with Costello syndrome is unclear.
authors.affiliation: London Centre for Pediatric Endocrinology and Metabolism, Great Ormond Street, Hospital for Children NHS Trust, London, United kingdom.
authors.forename: Saji
authors.initials: S
authors.lastname: Alexander
authors.forename: Dina
authors.initials: D
authors.lastname: Ramadan
authors.forename: Haya
authors.initials: H
authors.lastname: Alkhayyat
authors.forename: Ibrahim
authors.initials: I
authors.lastname: Al-Sharkawi
authors.forename: K C Aboo
authors.initials: KC
authors.lastname: Backer
authors.forename: Fatma
authors.initials: F
authors.lastname: El-Sabban
authors.forename: Khalid
authors.initials: K
authors.lastname: Hussain
mesh_terms: D000015:Abnormalities, Multiple / Q000473:pathology*; D003981:Diazoxide / Q000627:therapeutic use; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D006946:Hyperinsulinism / Q000188:drug therapy / Q000473:pathology*; D007003:Hypoglycemia / Q000188:drug therapy / Q000473:pathology*; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000473:pathology*; D013577:Syndrome
chemical_list: D003981:Diazoxide