Asymptomatic Congenital Hyperinsulinism due to a Glucokinase-Activating Mutation, Treated as Adrenal Insufficiency for Twelve Years.
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.
Center for Diabetes, Endocrinology and Metabolism, Shizuoka General Hospital, No. 4-27-1, Kita-Ando, Aoi-ku, Shizuoka, Shizuoka 420-8527, Japan.
Kae
K
Morishita
Center for Diabetes, Endocrinology and Metabolism, Shizuoka General Hospital, No. 4-27-1, Kita-Ando, Aoi-ku, Shizuoka, Shizuoka 420-8527, Japan.
Chika
C
Kyo
Center for Diabetes, Endocrinology and Metabolism, Shizuoka General Hospital, No. 4-27-1, Kita-Ando, Aoi-ku, Shizuoka, Shizuoka 420-8527, Japan.
Takako
0000-0002-5454-0438
T
Yonemoto
Center for Diabetes, Endocrinology and Metabolism, Shizuoka General Hospital, No. 4-27-1, Kita-Ando, Aoi-ku, Shizuoka, Shizuoka 420-8527, Japan.
Rieko
R
Kosugi
Center for Diabetes, Endocrinology and Metabolism, Shizuoka General Hospital, No. 4-27-1, Kita-Ando, Aoi-ku, Shizuoka, Shizuoka 420-8527, Japan.
Tatsuo
T
Ogawa
Center for Diabetes, Endocrinology and Metabolism, Shizuoka General Hospital, No. 4-27-1, Kita-Ando, Aoi-ku, Shizuoka, Shizuoka 420-8527, Japan.
Tatsuhide
T
Inoue