2019
DOI: 10.6065/apem.2019.24.4.262
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Hyperglycemia in pediatric age: could it be maturity onset diabetes of the young? Case reports and review of the literature

Abstract: Maturity Onset Diabetes of the Young (MODY) includes a clinically and genetically heterogeneous group of diabetes subtypes with MODY-2 being the second most prevalent form. We report 2 cases of MODY-2 identified during the investigation of asymptomatic hyperglycemia. A 12-year-old girl with a familiar history of diabetes (mother, maternal aunt, and maternal grandfather) was referred due to hypercholesterolemia, abnormal fasting glucose (114 mg/dL), and increased levels of glycated haemoglobin (HbA1c) (6%) pres… Show more

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Cited by 3 publications
(2 citation statements)
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References 15 publications
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“…According to a recent report from Japan, 39.2% were diagnosed with MODY; however, 18.4% showed de novo mutations contrary to the standard MODY criteria in this study [70]. Although standard MODY criteria include early onset (before age 25 to 35), absence of insulin dependence, absence of obesity and autoantibodies, and autosomal dominant inheritance for at least two generations [71], approximately 1% of MODY patients have glutamate decarboxylase antibodies, de novo mutations, and obesity, which make it challenging for the clinician to diagnose monogenic diabetes [72]. Approximately 60% to 80% of MODY'X' was not identified in suspected monogenic diabetes patients, there is continuous attempt to find out unidentified genes for MODY.…”
Section: Discussionmentioning
confidence: 56%
“…According to a recent report from Japan, 39.2% were diagnosed with MODY; however, 18.4% showed de novo mutations contrary to the standard MODY criteria in this study [70]. Although standard MODY criteria include early onset (before age 25 to 35), absence of insulin dependence, absence of obesity and autoantibodies, and autosomal dominant inheritance for at least two generations [71], approximately 1% of MODY patients have glutamate decarboxylase antibodies, de novo mutations, and obesity, which make it challenging for the clinician to diagnose monogenic diabetes [72]. Approximately 60% to 80% of MODY'X' was not identified in suspected monogenic diabetes patients, there is continuous attempt to find out unidentified genes for MODY.…”
Section: Discussionmentioning
confidence: 56%
“…The inactivation mutation of GCK increases the set point of glucosestimulated insulin secretion[31,32]. Most patients with GCK-MODY have mild fasting asymptomatic hyperglycemia within the prediabetic range and elevated hemoglobin A1c levels which usually do not exceed 7.5%[33,34]. GCK-MODY has a low risk of diabetes-related micro-and macrovascular complications, and treatment is not generally required in these patients except under pregnancy conditions[35,36].…”
mentioning
confidence: 99%