TY  - JOUR
TI  - Molecular Diagnosis of Monogenic Diabetes and Clinical/Laboratory
Features in Turkish Children
AB  - 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%), HNF1AMODY 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.
AU  - ABALI, SAYGIN
AU  - Demet Akbaş, Emine
AU  - bolu, semih
AU  - DARCAN, Şükran
AU  - Ozen, Samim
AU  - Evliyaoğlu, Olcay
AU  - Er, Eren
AU  - KOR, DENIZ
AU  - berberoglu, merih
AU  - unal, edip
AU  - Nalbantoğlu, Özlem
AU  - Abaci, Ayhan
AU  - POLAT, Recep
AU  - buyukinan, muammer
AU  - Kor, Yılmaz
AU  - ANIK, AHMET
AU  - siklar, zeynep
AU  - gökşen, damla
AU  - Karagüzel, Gülay
AU  - KORKMAZ, ÖZLEM
AU  - Söbü, Elif
AU  - tayfun, meltem
AU  - Eren, Erdal
AU  - Can Yilmaz, Gulay
AU  - Yeşilkaya, Ediz
DO  - 10.4274/jcrpe.galenos.2021.2021.0056
PY  - 2021
JO  - Journal of Clinical Research in Pediatric Endocrinology
VL  - 13
IS  - 4
SN  - 1308-5727
SP  - 433
EP  - 438
DB  - TRDizin
UR  - http://search/yayin/detay/521211
ER  -