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1- Iran University of medical Sciences, Aliasghar Clinical Research Development Center, department of Pediatrics, school of medicine , nourbakhsh.mo@iums.ac.ir
2- Iran University of medical Sciences, H.Aliasghar children hospital
2- Iran University of medical Sciences, H.Aliasghar children hospital
Abstract: (73 Views)
Introduction: Maturity-Onset Diabetes of the Young type 2 (GCK-MODY) is a monogenic form of diabetes caused by heterozygous mutations in the glucokinase (GCK) gene. It typically presents with mild fasting hyperglycemia, absence of classic diabetic symptoms, and an autosomal dominant inheritance pattern.
Case Presentation: A 3-year-old girl was referred to the endocrinology clinic for growth assessment. Lab workup revealed fasting blood glucose of 103 mg/dL and HbA1c of 6.2%. Her 2-years-old brother showed similar results. Family history revealed consanguinity and multiple diabetic relatives. Genetic sequencing identified a heterozygous missense mutation in the GCK gene (c.667G>A; p.Gly223Ser) in both siblings and their father, confirming autosomal dominant inheritance.
Conclusion: In families with mild, stable fasting hyperglycemia and a positive family history, simple fasting glucose monitoring and 2 hours postprandial may raise suspicion for GCK-MODY and prompt confirmatory genetic testing, thereby avoiding unnecessary pharmacologic or invasive interventions. Although treatment is typically unnecessary in GCK-MODY, special clinical conditions such as obesity, failure to thrive, or emerging autoimmunity may warrant temporary pharmacological intervention using agents such as biguanides or sulfonylureas to optimize metabolic outcomes.
Case Presentation: A 3-year-old girl was referred to the endocrinology clinic for growth assessment. Lab workup revealed fasting blood glucose of 103 mg/dL and HbA1c of 6.2%. Her 2-years-old brother showed similar results. Family history revealed consanguinity and multiple diabetic relatives. Genetic sequencing identified a heterozygous missense mutation in the GCK gene (c.667G>A; p.Gly223Ser) in both siblings and their father, confirming autosomal dominant inheritance.
Conclusion: In families with mild, stable fasting hyperglycemia and a positive family history, simple fasting glucose monitoring and 2 hours postprandial may raise suspicion for GCK-MODY and prompt confirmatory genetic testing, thereby avoiding unnecessary pharmacologic or invasive interventions. Although treatment is typically unnecessary in GCK-MODY, special clinical conditions such as obesity, failure to thrive, or emerging autoimmunity may warrant temporary pharmacological intervention using agents such as biguanides or sulfonylureas to optimize metabolic outcomes.
Type of Study: case report |
Subject:
pediatric Endocrinology
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