Molecular Diagnosis of Monogenic Diabetes and Clinical/Laboratory Features in Turkish Children
Damla Gökşen1, Ediz Yeşilkaya2, Samim Özen1, Yılmaz Kor3, Erdal Eren4, Özlem Korkmaz5, Merih Berberoğlu6, Gülay Karagüzel7, Eren Er1, Ayhan Abacı8, Olcay Evliyaoğlu9, Emine Demet Akbaş3, Edip Ünal10, Semih Bolu11, Özlem Nalbantoğlu12, Ahmet Anık13, Meltem Tayfun14, Muammer Büyükinan15, Saygın Abalı16, Gülay Can Yılmaz17, Deniz Kör18, Elif Söbü19, Zeynep Şıklar6, Recep Polat20, Şükran Darcan11Ege University Faculty of Medicine, Department of Pediatric Endocrinology, İzmir, Turkey219 Mayıs Hospital, Clinic of Pediatric Endocrinology, Ankara, Turkey
3Adana City Training and Research Hospital, Clinic of Pediatric Endocrinology, Adana, Turkey
4Bursa Uludağ University Faculty of Medicine, Department of Pediatric Endocrinology, Bursa, Turkey
5Başkent University Faculty of Medicine, Department of Pediatric Endocrinology, Ankara, Turkey
6Ankara University Faculty of Medicine, Department of Pediatric Endocrinology, Ankara, Turkey
7Karadeniz Technical University Faculty of Medicine, Department of Pediatric Endocrinology, Trabzon, Turkey
8Dokuz Eylül University Faculty of Medicine, Department of Pediatric Endocrinology, İzmir, Turkey
9İstanbul University, İstanbul Faculty of Medicine, Department of Pediatric Endocrinology, İstanbul, Turkey
10Dicle University Faculty of Medicine, Department of Pediatric Endocrinology, Diyarbakır, Turkey
11Adıyaman University Training and Research Hospital, Clinic of Pediatric Endocrinology, Adıyaman, Turkey
12University of Health Sciences Turkey, Dr. Behçet Uz Children’s Diseases and Surgery Training and Research Hospital, Clinic of Pediatric Endocrinology, İzmir, Turkey
13Aydın Adnan Menderes University Faculty of Medicine, Department of Pediatric Endocrinology, Aydın, Turkey
14Lokman Hekim University Faculty of Medicine, Department of Pediatric Endocrinology, Ankara, Turkey
15Konya Training and Research Hospital, Clinic of Pediatric Endocrinology, Konya, Turkey
16Acıbadem University Faculty of Medicine, Department of Pediatric Endocrinology, İstanbul, Turkey
17Mardin Public Hospital, Clinic of Pediatric Endocrinology, Mardin, Turkey
18Çukurova University Faculty of Medicine, Department of Pediatrics Nutrition and Metabolic Diseases, Adana, Turkey
19İstanbul Kartal Dr. Lütfi Kırdar City Hospital, Clinic of Pediatric Endocrinology, İstanbul, Turkey
20Sakarya Training and Research Hospital, Clinic of Pediatric Endocrinology, Sakarya, Turkey
Objective: Monogenic diabetes is a heterogeneous disease that causes functional problems in pancreatic beta cells and hyperglycemia. The aim of this study was to determine the clinical and laboratory features, the admission characteristics and distribution of monogenic form of diabetes in childhood in Turkey.
Methods: Patients aged 0-18 years, who were molecularly diagnosed with monogenic diabetes, and consented to participate, were included in the study.
Results: Seventy-seven (45.6%) female and 92 male cases with a mean age of 8.18±5.05 years at diagnosis were included. 52.7% of the cases were diagnosed with monogenic diabetes by random blood glucose measurement. The reason for genetic analysis in 95 (56.2%) of cases was having a family member diagnosed with diabetes under the age of 25. At the time of diagnosis, ketone was detected in urine in 16.6% of the cases. Mean hemoglobin A1c on admission, fasting blood glucose, fasting insulin, and c-peptide values were 7.3±2.1%, 184.9±128.9 mg/dL, 9.4±22.9 IU/L, 1.36±1.1 and ng/L respectively. GCK-MODY was found in 100 (59.2%), HNF1A-MODY in 31 (18.3%), and variants in ABCC8 in 6 (3.6%), KCNJ11 in 5 (3%), HNF4A in 2 (1.2%), and HNF1B in 2 (1.2%).
Conclusion: Recent studies have indicated HNF1A-MODY is the most frequent of all the MODY-monogenic diabetes cases in the literature (50%), while GCK-MODY is the second most frequent (32%). In contrast to these reports, in our study, the most common form was GCKMODY while less than 20% of cases were diagnosed with HNF1A-MODY.
Manuscript Language: English
