ECE2018 ePoster Presentations Diabetes, Obesity and Metabolism (56 abstracts)
A case report of MODY 2 treated as type 2 diabetes mellitus in pregnancy
Adnan Batman , Emre Sedar Saygili , Seda Eren Basmaz , Sezin Dogan Cakir , Duygu Yildiz , Feyza Yener Ozturk , Esra Cil Sen , Rumeysa Selvinaz Erol , Muhammed Masum Canat & Yuksel Altuntas
University of Health Sciences, Sisli Hamidiye Etfal Training and Research Hospital, Endocrinology and Metabolism Department, Istanbul, Turkey.
Introduction: Maturity-onset diabetes of young (MODY) type 2 is caused by mutation of the glucokinase gene. It is characterized by mild fasting hyperglicemia and absence of vascular complications. It is estimated that the incidence of gestational diabetes is 3%. We aimed to present a pregestational diabetic case with MODY-type 2 in pregnancy.
Case report: A 38-year-old pregnant woman was referred to our clinic for glycemic regulation at 22th week of gestation. She had diagnosis of diabetes mellitus 2 years ago and she was on metformin therapy before pregnancy. Her body mass index was 23.8 kg/m2 and physical examination findings were normal. Laboratory test results were HbA1c: 7%, fasting serum glucose: 114 mg/dl, C-peptide: 1.85 ng/ml, total cholesterol: 262 mg/dl, triglyceride:138 mg/dl, LDL-cholesterol: 169 mg/dl, Creatinine: 0.76 mg/dl. Her mother and cousin of her mother had diabetes mellitus also. She had two daughters with 23 and 12 years of age. 12-years-old one was being followed in the pediatric polyclinic due to impaired fasting glucose. Because of her family history and BMI<25 kg/m2, genetic analysis for MODY was performed. Insulin therapy was started as her glycemic regulation could not be provided with medical nutrition therapy alone. The insulin requirement for glycemic regulation was up to 72 units/day (1.24 U/kg) towards to the end of the pregnancy. No complications were observed in obstetric follow-ups of the patient. At 38th week of gestation, she gave birth to a 3700 g baby by C/S. Genetic analysis demonstrated heterozygous mutation of p.G81S (c.241G>A) compatible with MODY 2 and polymorphism of IVS9c.1253+8T>C (rs2908274) associated with ‘Type 2 diabetes’. These genetic findings were also determined for newborn baby and 12-years old daughter.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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