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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/m2 (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 HbA1C 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 HbA1C 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. What's new?: Female gender and positive family history were strongly associated with Type 2 diabetes in Turkish children as well as children in western countries.More than half (57%) of the participants were identified by opportunistic diabetes screening due to existing risk markers, without typical symptoms of diabetes.Approximately half of the children (47%) with Type 2 diabetes were treated with insulin while only 13% were treated solely by lifestyle modification. [ABSTRACT FROM AUTHOR]

Introduction: Celiac Disease (CD)-related antibody positivity in children with Type 1 Diabetes (T1D) may fluctuate and become negative spontaneously. There are uncertainties about the optimal tTG-IgA titre and timing of endoscopy in the diagnosis of CD, and this study aimed to contribute to the debate on the tTGA-IgA threshold titre for endoscopy decisions in children with T1D., Methods: The data of 991 children with T1D who had undergone serologic evaluation for CD were analysed retrospectively. The tTG-IgA positivity rate and the upper limit of normal (ULN) tTG-IgA positivity were assessed. Participants were grouped according to the frequency, course and test results of tTG-IgA tests. Those with and without histopathologic diagnosis of CD by endoscopic biopsy were compared in terms of tTG-IgA screening time and tTG-IgA predictive values., Results: In 10.2% (n:101) of all cases, tTG-IgA antibody was positive and endoscopic biopsy was performed in 68.3% (n:69) of these cases. Of all cases, 4.3% (n:43) were diagnosed with CD by endoscopic biopsy. A tTG-IgA titre of 7xULN and above was found to be the best predictive value for the diagnosis of CD with 79.1% sensitivity, 80.8% specificity 87.2% positive predictive value and 70% negative predictive value., Conclusions: Approximately 10% of antibody positive cases showed fluctuating and low titre positivity, and no CD was detected by endoscopic biopsy in the group with fluctuating antibody course. The results of our study suggest that endoscopy in children with tTG-IgA levels 7xULN or above may prevent both false positive results and missed cases., (S. Karger AG, Basel.)

Aims: Time in Tight Range (TITR) is a novel glycaemic metric in monitoring type 1 diabetes (T1D) management. The aim of this study was to assess the attainability of the TITR target in children and adolescents using the advanced hybrid closed loop (AHCL)., Methods: The 2128-day CGM data from 56 children and adolescents with T1D using AHCL (Minimed-780G) were analysed. Time in Range (TIR) (3.9-10 mmol/L), TITR (3.9-7.7 mmol/L), and other glycaemic parameters were separately analysed in terms of whole day, daytime (06.00-23:59), and nighttime (00.00-05.59) results. The participants were divided into two groups by autocorrection rate where Group 1 had a rate of <30% and Group 2 had a rate of ≥30., Results: All glycaemic parameters indicated a better glycaemic outcome in the nighttime with higher TIR and TITR values compared with daytime (for TIR 87.5 ± 9.5% vs. 78.8 ± 8%, p < 0.001, and TITR 68.2 ± 13.5% vs. 57.5 ± 8.8%, p < 0.001). The rates of TITR >50% and >60% were 87% and 52%, respectively. When those with TITR >60% (n: 29) and those without (n: 27) were evaluated in terms of hypoglycaemia, no statistically significant difference was found in time below range (TBR) 3-3.9 mmol/L (0.3% vs. 2.1%, p: 0.084) and TBR < 3 mmol/L (0.47% vs. 0.3%, p: 0.298). Group 1 had a significantly higher TIR and TITR compared to Group 2 (82.6 ± 6.1% vs. 75.6 ± 8.6%, p: 0.008 and 62.1 ± 7.5% vs. 53.8 ± 7.5%, p: 0.002, respectively)., Conclusions: Most children and adolescents on AHCL achieved the 50% target for TITR whereas more than half achieved the >60% target. A target of >50% for TITR seems realistic in children with T1D using AHCL., (© 2024 Diabetes UK.)

Introduction: The Glycemia Risk Index (GRI) and Continuous Glucose Monitoring Index (COGI) are newly defined composite metric parameters derived from continuous glucose monitoring (CGM) data. GRI is divided into five separate risk zones (from lowest to highest: A-E). In this study, the effect of the advanced hybrid closed loop (AHCL) system on GRI and COGI in children with type 1 diabetes was evaluated. Materials and Methods: Forty-five children who had started using the AHCL and whose baseline and sixth-month CGM data were available were analyzed in terms of achievement of CGM consensus goals and changes in GRI scores and zones. The paired t -test was used for the analyses. Results: The mean age and duration of diabetes of the participants were 10.95 ± 3.41 and 3.85 ± 2.67 years, respectively. The mean GRI score significantly decreased from 35.66 ± 17.46 at baseline to 22.83 ± 9.08 at 6 months ( P  < 0.001). Although the proportion of those in the A zone was 20% at baseline, it increased to 42% at 6 months. AHCL also improved COGI from 72.59 ± 12.44 to 82.90 ± 7.72 ( P  < 0.001). Time in range (TIR) increased significantly from 70.54% to 80.51% ( P  < 0.001) at 6 months. Conclusion: AHCL provides not only an improvement in TIR but also a significant improvement in both GRI and COGI at 6 months. The incorporation of GRI and COGI alongside TIR may enhance the assessment of the glycemic profile by providing a more comprehensive and in-depth analysis.

Backgrounds: During the Coronavirus-19 disease (Covid-19) pandemic it was observed that the number of girls presenting with early puberty had increased. The aim of this study was to carry out a retrospective evaluation of the characteristics of girls who had been referred for evaluation of precocious puberty in five different pediatric endocrinology units, before and during the pandemic., Methods: The study participants comprised 359 girls who were assigned into 2 groups a pre-pandemic group (n:214) and a pandemic group (n:145). Those participants (n:99) who had medical records in the follow-up period were classified into 3 subgroups according to the time of presentation and follow-up visits (group-1: first admission and follow-up visit before the pandemic, group-2: first admission before the pandemic, the follow-up visit during the pandemic, group-3: first admission and follow-up visit during the pandemic)., Results: The age at presentation and age at pubertal onset were both significantly lower in the pandemic group than those in the pre-pandemic group(8.1 vs 8.6, p: < 0.001,7.7 vs 7.9,p:0.013, respectively). There was no significant difference between the body mass index standard deviation scores (BMI-SDS) values of the groups (0.57 vs 0.51, p:0.430). The initiation rate of pubertal suppression therapy at the time of presentation was significantly higher in the pandemic group compared to that of the pre-pandemic group (7.7%vs 27.5%), and in groups-2 & 3 compared to group-1, during follow-up (20%&44%vs 8%)., Conclusion: Our research showed that the onset of puberty occurred earlier in the pandemic period compared to the previous year, and the need for pubertal suppression therapy increased during the pandemic., (© 2022. The Author(s).)

Background: Aldosterone synthase deficiency (ASD) caused by mutations in the CYP11B2 gene is characterized by isolated mineralocorticoid deficiency. Data are scarce regarding clinical and biochemical outcomes of the disease in the follow-up., Objective: Assessment of the growth and steroid profiles of patients with ASD at the time of diagnosis and after discontinuation of treatment., Design and Method: Children with clinical diagnosis of ASD were included in a multicenter study. Growth and treatment characteristics were recorded. Plasma adrenal steroids were measured using liquid chromatography-mass spectrometry. Genetic diagnosis was confirmed by CYP11B2 gene sequencing and in silico analyses., Results: Sixteen patients from 12 families were included (8 females; median age at presentation: 3.1 months, range: 0.4 to 8.1). The most common symptom was poor weight gain (56.3%). Median age of onset of fludrocortisone treatment was 3.6 months (range: 0.9 to 8.3). Catch-up growth was achieved at median 2 months (range: 0.5 to 14.5) after treatment. Fludrocortisone could be stopped in 5 patients at a median age of 6.0 years (range: 2.2 to 7.6). Plasma steroid profiles revealed reduced aldosterone synthase activity both at diagnosis and after discontinuation of treatment compared to age-matched controls. We identified 6 novel (p.Y195H, c.1200 + 1G > A, p.F130L, p.E198del, c.1122-18G > A, p.I339&#95;E343del) and 4 previously described CYP11B2 variants. The most common variant (40%) was p.T185I., Conclusions: Fludrocortisone treatment is associated with a rapid catch-up growth and control of electrolyte imbalances in ASD. Decreased mineralocorticoid requirement over time can be explained by the development of physiological adaptation mechanisms rather than improved aldosterone synthase activity. As complete biochemical remission cannot be achieved, a long-term surveillance of these patients is required., (© The Author(s) 2021. Published by Oxford University Press on behalf of the Endocrine Society. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.)

Background/aims: Maturity onset diabetes of the young (MODY) is a rare condition often misdiagnosed as type 1 diabetes (T1D). The purposes of this study were: to identify any patients followed in a large Turkish cohort as T1D, with an atypical natural history, who may in fact have MODY, and to define the criteria which would indicate patients with likely MODY as early as possible after presentation to allow prompt genetic testing., Methods: Urinary C-peptide/creatinine ratio (UCPCR) was studied in 152 patients having a diagnosis of T1D for at least 3 years. Those with a UCPCR ≥0.2 nmol/mmol were selected for genetic analysis of the Glucokinase (GCK), Hepatocyte nuclear factor 1a (HNF1A), Hepatocyte nuclear factor 4a (HNF4A), and Hepatocyte nuclear factor 1b (HNF1B) genes. This UCPCR cut-off was used because of the reported high sensitivity and specificity. Cases were also evaluated using a MODY probability calculator., Results: Twenty-three patients from 152 participants (15.1%) had a UCPCR indicating persistent insulin reserve. The mean age ± SD of the patients was 13.6 ± 3.6 years (range 8.30-21.6). Of these 23, two (8.7%) were found to have a mutation, one with HNF4A and one with HNF1B mutation. No mutations were detected in the GCK or HNF1A genes., Conclusion: In Turkish children with a diagnosis of T1D but who have persistent insulin reserve 3 years after diagnosis, up to 9% may have a genetic mutation indicating a diagnosis of MODY., (© 2018 S. Karger AG, Basel.)

Study Objective: To investigate the characteristics of children with ovarian cysts and evaluate treatment strategies., Design: Retrospective study., Setting: Eight pediatric endocrinology clinics, Turkey., Participants: A total of 100 children and adolescents with ovarian cysts., Interventions: Patient data collected via retrospective chart review. Patients were stratified according to age into 4 groups (newborns, 1-12 months, 1-8 years, and 8-18 years)., Main Outcome Measures: Special emphasis was given to torsion and tumor cases, concomitant diseases, treatment modalities, and problems during follow-up., Results: Most newborns and infants were asymptomatic with the cysts being discovered incidentally; in girls ages 1-8, symptoms were common, including breast budding (47.1%, 16 of 34) and vaginal bleeding (29.4%, 10 of 34). Girls older than 8 years mostly presented with abdominal pain (31.6%, 12 of 38) and menstrual irregularity (21.1%, 8 of 38). Most of our patients were diagnosed with a simple ovarian cyst, but 9 patients were found to have ovarian tumors. Ovarian torsion was detected in 7 patients; 5 with large and 2 with small cysts (<20 mm). Two patients had central precocious puberty (CPP) at presentation and 5 patients developed CPP during follow-up. The surgical intervention rate was high (38%, 38 of 100), but was associated with earlier treatment year, and this association remained significant after adjusting for confounders (P = .035)., Conclusion: Most girls have simple cysts, which have a favorable prognosis without intervention; however, there might be coexisting pathologies or complications such as tumors, torsion, and CPP; hence these patients should be evaluated accordingly and treated with a multidisciplinary approach., (Copyright © 2017 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.)

Aim/background: Vitamin D supplementation during pregnancy is a well-accepted recommendation worldwide; however, the debate about the correct dose is ongoing. We aimed to compare daily doses of 600, 1,200, and 2,000 IU in this randomized, controlled study., Methods: The study group consisted of 91 pregnant women aged 16-42 years admitted to Kocaeli Maternity and Children Hospital between April 2011 and April 2012. The participants were randomly divided into 3 groups. 600, 1,200, and 2,000 IU/day of vitamin D was supplemented to group 1 (control group, n = 31), group 2 (n = 31), and group 3 (n = 32), respectively. Serum calcium, 25-hydroxyvitamin D (25OHD), and the calcium/creatinine ratio in spot urine samples were measured in the follow-up period. The serum calcium and 25OHD levels of the mothers' infants were measured as well., Results: The frequency of vitamin D sufficiency after supplementation was 80% in group 3 and it was significantly higher than in groups 1 (42%) and 2 (39%) (p = 0.03). The frequency of vitamin D sufficiency in the infants of the participants was 91% in group 3 and it was significantly higher than in groups 1 (36%) and 2 (52%) (p = 0.006)., Conclusions: At least 2,000 IU/day of vitamin D is needed to ensure adequate vitamin D status in pregnancy and early infancy., (© 2014 S. Karger AG, Basel.)