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    Characteristics of Turkish children with Type 2 diabetes at onset: a multicentre, cross-sectional study
    (Wiley, 2019) Hatun, S.; Mutlu, G. Yeşiltepe; Cinaz, P.; Turan, S.; Ekberzade, A.; Bereket, A.; Erbaş, M. Y.; Önal, H.; Bolu, S.; Arslanoğlu, I.; Döğer, E.; Yılmaz, A. A.; Uçaktürk, A.; Karabulut, G. S.; Tuhan, H. U.; Demir, K.; Erdeve, S. S.; Aycan, Z.; Nalbantoğlu, O.; Kara, C.; Güngör, N.; Darendeliler, Feyza; Bundak, Rüveyde; Anık, Ahmet; Uçar, Ahmet; Çayır, Atilla; Ergür, Ayça Törel; Özcabi, Bahar; Haliloğlu, Belma; Özkan, Behzat; Eklioğlu, Beray Selver; Kirel, Birgül; Bezen, Digdem; Vurallı, Doğus; Ünal, Edip); Sağsak, Elif; Bugrul, Fuat; Çatlı, Gönül; Korkmaz, Hüseyin Anıl; Özbek, Mehmet Nuri; Tayfun, Meltem; Genens, Mikayir; Büyük, Muammer; Hatipoğllu, Nihal; Abalı, Saygın; Kiremitçi, Seniha; Curek, Yusuf; Siklar, Zeynep; Akçay, Teoman
    Aims To describe the baseline clinical and laboratory findings and treatment modalities of 367 children and adolescents diagnosed with Type 2 diabetes in various paediatric endocrinology centres in Turkey. Methods A standard questionnaire regarding clinical and laboratory characteristics at onset was uploaded to an online national database system. Data for 367 children (aged 6-18 years) newly diagnosed with Type 2 diabetes at 37 different paediatric endocrinology centres were analysed. Results After exclusion of the children with a BMI Z-score < 1 SD, those with genetic syndromes associated with Type 2 diabetes, and those whose C-peptide and/or insulin levels were not available, 227 cases were included in the study. Mean age was 13.8 +/- 2.2 (range 6.5-17.8) years, with female preponderance (68%). Family history of Type 2 diabetes was positive in 86% of the children. The mean BMI was 31.3 +/- 6.5 kg/m(2) (range 18.7-61) and BMI Z-score was 2.4 +/- 0.8 (range 1-5). More than half (57%) of the children were identified by an opportunistic diabetes screening due to existing risk markers without typical symptoms of diabetes. Only 13% (n = 29) were treated solely by lifestyle modification, while 40.5% (n = 92) were treated with metformin, 13% (n = 30) were treated with insulin, and 33.5% (n = 76) were treated with a combination of insulin and metformin initially. Mean HbA(1C) levels of the insulin and combination of insulin and metformin groups were 98 (11.1%) and 102 mmol/mol (11.5%), respectively, and also were significantly higher than the lifestyle modification only and metformin groups mean HbA(1C) levels (70(8.6%) and 67 mmol/mol (8.3%), respectively). Conclusions An opportunistic screening of children who are at high risk of Type 2 diabetes is essential, as our data showed that > 50% of the children were asymptomatic at diagnosis. The other important result of our study was the high rate of exclusion from the initial registration (38%), suggesting that accurate diagnosis of Type 2 diabetes in youth is still problematic, even for paediatric endocrinologists.
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    Comprehensive genetic testing shows one in five children with diabetes and non-autoimmune extra-pancreatic features have monogenic aetiology
    (Karger, 2018) Patel, Kashyap A.; Colclough, Kevin; Ozbek, Mehmet Nuri; Yildiz, Melek; Guran, Tulay; Kocyigit, Cemil; Acar, Sezer; Siklar, Zeynep; Atar, Muge; Johnson, Matt B.; Flanagan, Sarah E.; Ellard, Sian; Cizmecioglu, Filiz Mine; Berberoglu, Merih; Demir, Korcan; Catli, Gonul; Bas, Serpil; Akçay, Teoman; Demirbilek, Huseyin; Weedon, Michael N.; Hattersley, Andrew T.
    Young onset Diabetes with non-autoimmune extra pancreatic features
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    Systematic genetic testing for recessively inherited monogenic diabetes: a cross-sectional study in paediatric diabetes clinics
    (SPRINGER, 2021) Patel, Kashyap A.; Ozbek, Mehmet N.; Yildiz, Melek; Guran, Tulay; Kocyigit, Cemil; Acar, Sezer; Siklar, Zeynep; Akçay, Teoman
    Aims/hypothesis Current clinical guidelines for childhood-onset monogenic diabetes outside infancy are mainly focused on identifying and testing for dominantly inherited, predominantly MODY genes. There are no systematic studies of the recessively inherited causes of monogenic diabetes that are likely to be more common in populations with high rates of consanguinity. We aimed to determine the contribution of recessive causes of monogenic diabetes in paediatric diabetes clinics and to identify clinical criteria by which to select individuals for recessive monogenic diabetes testing. Methods We conducted a cross-sectional study of 1093 children from seven paediatric diabetes clinics across Turkey (a population with high rates of consanguinity). We undertook genetic testing of 50 known dominant and recessive causes of monogenic diabetes for 236 children at low risk of type 1 diabetes. As a comparison, we used monogenic diabetes cases from UK paediatric diabetes clinics (a population with low rates of consanguinity). Results Thirty-four children in the Turkish cohort had monogenic diabetes, equating to a minimal prevalence of 3.1%, similar to that in the UK cohort (p = 0.40). Forty-one per cent (14/34) had autosomal recessive causes in contrast to 1.6% (2/122) in the UK monogenic diabetes cohort (p < 0.0001). All conventional criteria for identifying monogenic diabetes (parental diabetes, not requiring insulin treatment, HbA(1c) <= 58 mmol/mol [<= 7.5%] and a composite clinical probability of MODY >10%) assisted the identification of the dominant (all p <= 0.0003) but not recessive cases (all p >= 0.2) in Turkey. The presence of certain non-autoimmune extra-pancreatic features greatly assisted the identification of recessive (p < 0.0001, OR 66.9) but not dominant cases. Conclusions/interpretation Recessively inherited mutations are a common cause of monogenic diabetes in populations with high rates of consanguinity. Present MODY-focused genetic testing strategies do not identify affected individuals. To detect all cases of monogenic paediatric diabetes, it is crucial that recessive genes are included in genetic panels and that children are selected for testing if they have certain non-autoimmune extra-pancreatic features in addition to current criteria.