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

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.

• Authors: Kae Morishita, Chika Kyo, Takako Yonemoto, Rieko Kosugi, Tatsuo Ogawa, Tatsuhide Inoue
• Journal: Case reports in endocrinology (Case Rep Endocrinol) Vol. 2017 Pg. 4709262 ( 2017) ISSN: 2090-6501 [Print] United States
• PMID: 28163940 (Publication Type: Case Reports)