Category: Diabetes/Prediabetes/Hypoglycemia

Monitor: 34

34 - MATURITY ONSET DIABETES OF THE YOUNG: FIRST REPORTED CASE IN PERÚ

Thursday, Apr 25
11:00 AM – 11:30 AM

Objective :

To present the first case of Maturity Onset Diabetes of the Young reported in Perú.


A 15-year-old male, diagnosed with T2DM at age 13 and on treatment with metformin, with irregular follow up was referred to endocrinology evaluation. He presented with history of weight loss, fatigue, polyuria and records of mild hyperglycemia. He has family history of T2DM (paternal Grandmother and maternal uncle). On physical examination: Weight 52kg, height 1.68m and BMI 18.4. Fasting glucose: 132mg / dl, Hb A1c: 6.4%, Anti-GAD and anti-islet cell antibodies: negative. Creatinine clearance: 181.61ml / min and basal C-peptide: 1.63. Patient started Levemir 12 units/day and pre-prandial lispro, with good glycemic control. We suggested an Oral glucose tolerance test (OGTT) with glucose, insulin and C-peptide with the following results: 113 mg/dl -12.1 uUI/ml - 1.04 ng/ml at baseline, 204 mg/dl - 89.4 uUI/ml -7.86 ng/ml in the first hour and 184 mg/dl - 129.8 uUI/ml - 9.71 ng/ml in two hours. These results supported the diagnosis of Maturity onset diabetes of the young (MODY). We decided to suspend pre-prandial insulin, reduce Levemir- insulin, and initiated glimepiride 1mg/day. Also, we suggest an OGTT on his parents, with normal results. MODY Panel was performed by next generation sequencing identifying a pathogenic variant c.629C> T, p. (Thr210Met) in heterozygosis in GCK gene, according to the American College of Medical Genetics. This result confirmed the diagnosis of MODY2. Patient continued with only oral medication, with optimal control.


 


Methods : n/a


Results : n/a


Discussion :

MODY is a monogenic disease which accounts for 1-2% of all diabetes cases. Recently 14 genes associated with MODY have been proposed and the clinical characteristics differ according to the genetic etiology. MODY2 is one of the most frequent subtypes and is caused by mutations in the glucokinase gene (GCK-MODY) inherited in an autosomal dominant manner and it has been described in a variety of ethnic groups. The prevalence of MODY is rare and is estimated to account for between 0.6% and 2% of all diabetes. MODY should be suspected in non-obese subjects, onset before 25 years with mild hyperglycemia and absence of DKA. In this case, low doses of insulin required and the absence of an acute hyperglycemic response, supported the diagnosis.


Conclusion :

Little information about the frequency of MODY has been reported in Latins, perhaps due to limited access to genetic studies. This is the first case of MODY with pathogenic variant in GSK gene reported in Perú with a complete study. The clinical evaluation supported by a genetic testing is important to confirm the type of Diabetes and establish appropriate treatment.

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Juan Carlos Lizarzaburu

Endocrinologist
Peruvian Air-Force Central Hospital
LIMA, Lima, Peru

Medical Doctor, Endocrinologist, with special interest in the field of Prevention and Education in Diabetes.

Maria del Carmen Castro-Mujica

Geneticist
Sequence Reference Lab

Medical Geneticist.

Flor Vento

Endocrinologist
Peruvian Air-Force Central Hospital

Medical Endocrinologist

Sofia Villanes

Endocrinologist
Peruvian Air-Force Central Hospital

Medical Endocrinologist

Elizabeth Salsavilca

Endocrinologist
Asociación para la Prevención, Educación e Investigación en Diabetes, Lima-Perú

Medical Endocrinologist

Juan Carlos Gomez-de-la-Torre

Clinical Pathologist
Sequence Reference Lab

Clinical Pathologist