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    Homozygous loss-of-function mutations in SLC26A7 cause goitrous congenital hypothyroidism
    (American Society for Clinical Investigation Inc, 2018) Cangül, Hakan; Liao, Xiao-Hui; Schoenmakers, Erik; Kero, Jukka; Barone, Sharon; Srichomkwun, Panudda; Lwayama, Hideyuki; Serra, Eva G.; Sağlam, Halil; Eren, Erdal; Tarım, Ömer; Nicholas, Adeline K.; Zvetkova, Ilona; Anderson, Carl A.; Frankl, Fiona E. Karet; Boelaert, Kristien; Ojaniemi, Marja; Jaaskelainen, Jarmo; Patyra, Konrad; Lof, Christoffer; Williams, E. Dillwyn; Consortium, Ukk; Soleimani, Manoocher; Barrett, Timothy; Maher, Eamonn R.; Chatterjee, V. Krishna; Refetoff, Samuel; Schoenmakers, Nadia
    Defects in genes mediating thyroid hormone biosynthesis result in dyshormonogenic congenital hypothyroidism (CH). Here, we report homozygous truncating mutations in SLC26A7 in 6 unrelated families with goitrous CH and show that goitrous hypothyroidism also occurs in Slc26a7-null mice. In both species, the gene is expressed predominantly in the thyroid gland, and loss of function is associated with impaired availability of iodine for thyroid hormone synthesis, partially corrected in mice by iodine supplementation. SLC26A7 is a member of the same transporter family as SLC26A4 (pendrin), an anion exchanger with affinity for iodide and chloride (among others), whose gene mutations cause congenital deafness and dyshormonogenic goiter. However, in contrast to pendrin, SLC26A7 does not mediate cellular iodide efflux and hearing in affected individuals is normal. We delineate a hitherto unrecognized role for SLC26A7 in thyroid hormone biosynthesis, for which the mechanism remains unclear.
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    Incidence of type 1 diabetes in children aged below 18 years during 2013-2015 in northwest Turkey
    (Galenos Yayıncılık, 2018) Poyrazoğlu, Şükran; Bundak, Rüveyde; Yavaş Abalı, Zehra; Önal, Hasan; Sarıkaya, Sevil; Akgün, Abdurrahman; Baş, Serpil; Abalı, Saygın; Bereket, Abdullah; Eren, Erdal; Tarım, Ömer; Güven, Ayla; Yıldız, Metin; Karaman Aksakal, Derya; Yüksel, Ayşegül; Seymen Karabulut, Gülcan; Hatun, Şükrü; Özgen, Tolga; Cesur, Yaşar; Azizoğlu, Mehmet; Dilek, Emine; Tütüncüler, Filiz; Çakır, Esra Papatya; Özcabı, Bahar; Evliyaoğlu, Olcay; Karadeniz, Songül; Dursun, Fatma; Bolu, Semih; Arslanoğlu, İlknur; Yeşiltepe Mutlu, Gül; Kırmızıbekmez, Heves; İşgüven, Pınar; Üstyol, Ala; Adal, Erdal; Uçar, Ahmet; Cebeci, Nurcan; Bezen, Didem; Binay, Çiğdem; Semiz, Serap; Korkmaz, Hüseyin Anıl; Memioğlu, Nihal; Sağsak, Elif; Peltek, Havva Nur; Yıldız, Melek; Akçay, Teoman; Turan, Serap; Güran, Tülay; Atay, Zeynep; Akcan, Neşe; Çizmecioğlu, Filiz; Ercan, Oya; Dağdeviren, Aydilek; Baş, Firdevs; İşsever, Halim; Darendeliler, Feyza
    Objective: To assess the incidence of type I diabetes mellitus (T1DM) in children under 18 years of age in the northwest region of Turkey during 2013-2015. Methods: All newly diagnosed T1DM cases were recorded prospectively during 2013-2015. Total, as well as gender and age group specific (0-4, 5-9. 10-14 and 15-17 age) mean incidences per 100,000 per year were calculated. Results: There were 1,773 patients diagnosed during 2013-2015 (588 cases in 2013, 592 cases in 2014, 593 cases in 2015). Of these, 862 (48.6 %) were girls and 911 (51.4%) were boys. The mean age at diagnosis was 9.2 +/- 4.2 years and it was not significantly different between girls (9.0 +/- 4.1 years) and boys (9.4 +/- 4.4 years) (p = 0.052). The crude mean incidence was 8.99/100.000 confidence interval (CI) (95% CI: 8.58-9.42). Although mean incidence was similar between boys [8.98/100.000 (CI: 8.40 to 9.58)] and girls [9.01/100.000 (CI: 8.42 to 9.63)], there was male predominance in all groups except for 5-9 year age group. The standardized mean incidence was 9.02/100.000 according to the World Health Organization standard population. The mean incidence for the 0-4, 5-9, 10-14 and 15-17 age groups was 6.13, 11.68, 11.7 and 5.04/1 00.000 respectively. The incidence of T1DM was similar over the course of three years (p = 0.95). A significant increase in the proportion of cases diagnosed was observed in the autumn-winter seasons. Conclusion: The northwest region of Turkey experienced an intermediate incidence of T1DM over the period of the study.
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    Prevalence of obesity in prepubertal and pubertal with Turkish population type 1 diabetes
    (Springer Japan K.K., 2021) Özkaya, Volkan; Eren, Erdal; Özgen Özkaya, Şebnem; Denkboy Öngen, Yasemin
    To determine the prevalence of prepubertal and pubertal obesity in children and adolescents with type 1 Diabetes Mellitus (Type 1 DM). One hundred fifty children and adolescents aged 6-18 years with Type 1 DM who attended the Pediatric Endocrinology Polyclinic and were diagnosed with type 1 DM were included in the study. Tanner staging was used to estimate pubertal status. Age- and gender-specific body mass index (BMI) percentile between 85 and 95% was accepted as overweight and > 95% as obese. It was determined that the overweight prevalence rates in children and adolescents with type 1 DM were 13.3% and the obesity rate was 14.3%. It was found that while the overweight prevalence rates (14.1%) were higher in males, the obesity prevalence was higher in females (19.0%). The obesity prevalence rates at the prepubertal and pubertal stages were found to be 17.1% and 13.8%, respectively. The obesity prevalence at the pubertal stage was higher in girls (22.4%) than boys (3.9%) (p < 0.05). The rates both of overweight and obesity in boys decreased from prepubertal to pubertal periods, while those rates increased in girls. Our results indicated that the obesity prevalence in prepubertal and pubertal children and adolescents with type 1 DM was higher compared to healthy peers in the literature. The authors believe that the risk factors for obesity in this population should be determined and obesity-prevention programs for diabetes should be prepared.