Molecular Diagnosis of Monogenic Diabetes and Clinical/Laboratory Features in Turkish Children
Damla Gökşen,
Ediz Yeşilkaya,
Samim Özen,
Yılmaz Kor,
Erdal Eren,
Özlem Korkmaz,
Merih Berberoğlu,
Gülay Karagüzel,
Eren Er,
Ayhan Abacı,
Olcay Evliyaoğlu,
Emine Demet Akbaş,
Edip Ünal,
Semih Bolu,
Özlem Nalbantoğlu,
Ahmet Anık,
Meltem Tayfun,
Muammer Büyükinan,
Saygın Abalı,
Gülay Can Yılmaz,
Deniz Kör,
Elif Söbü,
Zeynep Şıklar,
Recep Polat,
Şükran Darcan
Affiliations
Damla Gökşen
Ege University Faculty of Medicine, Department of Pediatric Endocrinology, İzmir, Turkey
Ediz Yeşilkaya
19 Mayıs Hospital, Clinic of Pediatric Endocrinology, Ankara, Turkey
Samim Özen
Ege University Faculty of Medicine, Department of Pediatric Endocrinology, İzmir, Turkey
Yılmaz Kor
Adana City Training and Research Hospital, Clinic of Pediatric Endocrinology, Adana, Turkey
Erdal Eren
Bursa Uludağ University Faculty of Medicine, Department of Pediatric Endocrinology, Bursa, Turkey
Özlem Korkmaz
Başkent University Faculty of Medicine, Department of Pediatric Endocrinology, Ankara, Turkey
Merih Berberoğlu
Ankara University Faculty of Medicine, Department of Pediatric Endocrinology, Ankara, Turkey
Gülay Karagüzel
Karadeniz Technical University Faculty of Medicine, Department of Pediatric Endocrinology, Trabzon, Turkey
Eren Er
Ege University Faculty of Medicine, Department of Pediatric Endocrinology, İzmir, Turkey
Ayhan Abacı
Dokuz Eylül University Faculty of Medicine, Department of Pediatric Endocrinology, İzmir, Turkey
Olcay Evliyaoğlu
İstanbul University, İstanbul Faculty of Medicine, Department of Pediatric Endocrinology, İstanbul, Turkey
Emine Demet Akbaş
Adana City Training and Research Hospital, Clinic of Pediatric Endocrinology, Adana, Turkey
Edip Ünal
Dicle University Faculty of Medicine, Department of Pediatric Endocrinology, Diyarbakır, Turkey
Semih Bolu
Adıyaman University Training and Research Hospital, Clinic of Pediatric Endocrinology, Adıyaman, Turkey
Özlem Nalbantoğlu
University of Health Sciences Turkey, Dr. Behçet Uz Children’s Diseases and Surgery Training and Research Hospital, Clinic of Pediatric Endocrinology, İzmir, Turkey
Ahmet Anık
Adnan Menderes University Faculty of Medicine, Department of Pediatric Endocrinology, Aydın, Turkey
Meltem Tayfun
Lokman Hekim University Faculty of Medicine, Department of Pediatric Endocrinology, Ankara, Turkey
Muammer Büyükinan
Konya Training and Research Hospital, Clinic of Pediatric Endocrinology, Konya, Turkey
Saygın Abalı
Acıbadem University Faculty of Medicine, Department of Pediatric Endocrinology, İstanbul, Turkey
Gülay Can Yılmaz
Mardin Public Hospital, Clinic of Pediatric Endocrinology, Mardin, Turkey
Deniz Kör
Çukurova University Faculty of Medicine, Department of Pediatrics Nutrition and Metabolic Diseases, Adana, Turkey
Elif Söbü
İstanbul Kartal Dr. Lütfi Kırdar City Hospital, Clinic of Pediatric Endocrinology, İstanbul, Turkey
Zeynep Şıklar
Ankara University Faculty of Medicine, Department of Pediatric Endocrinology, Ankara, Turkey
Recep Polat
Sakarya Training and Research Hospital, Clinic of Pediatric Endocrinology, Sakarya, Turkey
Şükran Darcan
Ege University Faculty of Medicine, Department of Pediatric Endocrinology, İzmir, 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.