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Case Reports in Endocrinology
Volume 2017, Article ID 4709262, 6 pages
https://doi.org/10.1155/2017/4709262
Case Report

Asymptomatic Congenital Hyperinsulinism due to a Glucokinase-Activating Mutation, Treated as Adrenal Insufficiency for Twelve Years

Center for Diabetes, Endocrinology and Metabolism, Shizuoka General Hospital, No. 4-27-1, Kita-Ando, Aoi-ku, Shizuoka, Shizuoka 420-8527, Japan

Correspondence should be addressed to Takako Yonemoto; pj.ca.u-otoyk.phuk@iokakat

Received 15 November 2016; Accepted 21 December 2016; Published 9 January 2017

Academic Editor: John Broom

Copyright © 2017 Kae Morishita 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

Congenital hyperinsulinism (CHI) caused by a glucokinase- (GCK-) activating mutation shows autosomal dominant inheritance, and its severity ranges from mild to severe. A 43-year-old female with asymptomatic hypoglycemia (47 mg/dL) was diagnosed as partial adrenal insufficiency and the administration of hydrocortisone (10 mg/day) was initiated. Twelve years later, her 8-month-old grandchild was diagnosed with CHI. Heterozygosity of exon 6 c.590T>C (p.M197T) was identified in a gene analysis of GCK, which was also detected in her son and herself. The identification of GCK-activating mutations in hyperinsulinemic hypoglycemia patients may be useful for a deeper understanding of the pathophysiology involved and preventing unnecessary glucocorticoid therapy.