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Case Reports in Pediatrics
Volume 2015, Article ID 561974, 4 pages
http://dx.doi.org/10.1155/2015/561974
Case Report

Hyperinsulinemic Hypoglycaemia in a Turner Syndrome with Ring (X)

1Department of Paediatrics, Santa Maria delle Croci Hospital, 48121 Ravenna, Italy
2Department of Clinical Pathology, Medical Genetics Unit, Pievesestina, 47522 Cesena, Italy
3London Centre for Pediatric Endocrinology and Metabolism, Great Hormond Street Hospital for Children NHS Trust and the Institute of Child Health, London WC1N 3JH, UK

Received 30 January 2015; Accepted 13 April 2015

Academic Editor: Ozgur Cogulu

Copyright © 2015 Michela Cappella et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

Hyperinsulinemic hypoglycaemia (HH) is a group of clinically, genetically, and morphologically heterogeneous disorders characterized by dysregulation of insulin secretion by pancreatic beta cells. HH can either be congenital genetic hyperinsulinism or associated with metabolic disorder and syndromic condition. Early identification and meticulous management of these patients is vital to prevent neurological insult. There are only three reported cases of HH associated with a mosaic, r(X) Turner syndrome. We report the four cases of an infant with a mosaic r(X) Turner genotype and HH responsive to diazoxide therapy.