Premium
Costello syndrome and hyperinsulinemic hypoglycemia
Author(s) -
Alexander Saji,
Ramadan Dina,
Alkhayyat Haya,
AlSharkawi Ibrahim,
Backer K.C. Aboo,
ElSabban Fatma,
Hussain Khalid
Publication year - 2005
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.31011
Subject(s) - medicine , hypoglycemia , endocrinology , hyperinsulinemic hypoglycemia , costello syndrome , hyperinsulinism , multiple endocrine neoplasia , diazoxide , cardiomyopathy , insulin , heart failure , insulin resistance , cancer , biology , biochemistry , colorectal cancer , kras , gene
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. © 2005 Wiley‐Liss, Inc.