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Updated: Mar 8, 2026

A Novel Method: Super-selective Adrenal Venous Sampling
Published on: September 15, 2017
Asymptomatic Congenital Hyperinsulinism due to a Glucokinase-Activating Mutation, Treated as Adrenal Insufficiency
Kae Morishita1, Chika Kyo1, Takako Yonemoto1
1Center for Diabetes, Endocrinology and Metabolism, Shizuoka General Hospital, No. 4-27-1, Kita-Ando, Aoi-ku, Shizuoka, Shizuoka 420-8527, Japan.
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.
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