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Aim The purpose of this study was to evaluate the effects of obesity and overweight on oral/dental health and blood biochemistry parameters in children. Eighty-seven children (29 boys and 58 girls) aged 1-18 presenting to in our pediatric clinic were included in the study. Methods The patient group consisted of overweight or obese children, and the control group of normal weight individuals. Pediatric patients were examined simultaneously by a pediatrician and a pediatric dentist. Oral/dental health examinations were performed by a pediatric dentist, and DMFT/dmft index, CPITN index and dental plaque calculations were made. In addition, daily tooth brushing habits were evaluated by questioning the time of the last dental examination. Oral and dental health examination findings and blood biochemistry parameters were compared between the two groups. Results Obesity/overweight was found to be associated with, the dental plaque index, DMFT/dmft index, and elevation in the blood biochemistry parameters CRP and PTH among the children in this study. Conclusion The observation of significant elevation in DMFT and dental plaque indices, and numbers of filled deciduous teeth showed that oral/dental health problems and dental decay may emerge more frequently in obesity/overweight children.

Background: Maturity-onset diabetes of the young (MODY), which is the most common cause of monogenic diabetes, has an autosomal dominant pattern of inheritance and exhibits marked clinical and genetic heterogeneity. The aim of the current study was to investigate molecular defects in patients with clinically suspected MODY using a next-generation sequencing (NGS)-based targeted gene panel. Methods: Candidate patients with clinical suspicion of MODY and their parents were included in the study. Molecular genetic analyses were performed on genomic DNA by using NGS. A panel of ten MODY-causal genes involving GCK, HNF1A, HNF1B, HNF4A, ABCC8, CEL, INS, KCNJ11, NEUROD1, PDX1 was designed and subsequently implemented to screen 40 patients for genetic variants. Results: Ten different pathogenic or likely pathogenic variants were identified in MODY-suspected patients, with a diagnostic rate of 25%. Three variants of uncertain significance were also detected in the same screen. A novel pathogenic variant in the gene HNF1A (c.505_506delAA [p.Lys169AlafsTer18]) was described for the first time in this report. Intriguingly, we were able to detect variants associated with rare forms of MODY in our study population. Conclusions: Our results suggest that in heterogenous diseases such as MODY, NGS analysis enables accurate identification of underlying molecular defects in a timely and cost-effective manner. Although MODY accounts for 2-5% of all diabetic cases, molecular genetic diagnosis of MODY is necessary for optimal long-term treatment and prognosis as well as for effective genetic counseling.

Purpose This study aimed to examine the long-term changes in anterior chamber depth (ACD), central corneal thickness (CCT), axial length (AxL), peripapillary retinal nerve fibre layer thickness (RNFLT), peripapillary ganglion cell layer – inner plexiform layer (GCL-IPL) thickness, and peripapillary choroidal thickness (ChT) after rhGH replacement treatment in paediatric patients with IGHD, compared to healthy controls. Methods Twenty-two children with IGHD including 12 girls and 10 boys were enrolled in the study group, and 30 (16 girls, 14 boys) healthy children composed the control group. A detailed ophthalmological examination was performed for each participant. ACD, CCT, AxL, peripapillary RNFLT, GCL-IPL thickness and ChT measurements were performed before the rhGH replacement treatment and in the 12th month of the post-treatment period, as well as the corresponding visits in the control group. AxL ultrasound pachymetry (CCT), peripapillary RNFL thickness, peripapillary RNFLT, GCL-IPL thickness, and peripapillary ChT parameters were measured by spectral-domain optical coherence tomography. Results The mean age of the groups were similar (p = 0.143). 12-month CCT, ACD, and AxL measurements of the study group showed significantly higher results than the pre-treatment measurements (p = 0.005, p = 0.024, and p = 0.002, respectively). Similarly, the mean RNFLT and ChT measurements of the study group obtained from all sectors were significantly higher in the 12th-month visit (p 0.05 for all). However, all these parameters were similar at pre- and post-treatment visits in the control group (p > 0.05 for all). The mean pre-treatment values of all these parameters were significantly lower in the study group compared to the control group (p 0.05 for all), while the mean post-treatment values of all these parameters in both groups were similar at month 12 (p > 0.05 for all). Conclusion GH replacement treatment in childhood may play an important role in the development of the neural retina and can be effective on the anterior segment, RNFLT and ChT measurements.

To assess the peripapillary retinal nerve fiber layer (RNFL) and macular choroidal thickness (CT) of children who have Type 1 diabetes mellitus (DM), both with and without vitamin D deficiency (VDD).The prospective, case-control study herein comprised that included 46 children with DM and VDD (Group 1), 42 children with DM and normal vitamin D levels (Group 2), and 73 healthy children (Control group). The peripapillary RNFL thickness and macular CT were measured at three different points (subfoveal, 1500 μm nasal, and 1500 μm temporal from the fovea) and compared.The subfoveal, 1500 μm nasal, and 1500 μm temporal CT values were determined to be lower in the patients in Group 1 and Group 2 when compared to those in the Control group (P 0.001). The same parameters were determined to be lower in the patients in Group 1 when compared to those in Group 2, although this difference was not found to be statistically significant (P 0.05). In all of the quadrants, the RNFL thickness was determined to be similar between the groups, with P 0.05 for all of the groups, except for the nasal quadrant (P = 0.031). In the correlation analysis of the patients in Group 1, it was revealed that a positive correlation existed between the CT and the vitamin D levels (P 0.05).The choroids of pediatric diabetic children were thinner when compared to those of healthy children. The alterations in these parameters were more prominent in subjects who were determined to have lower levels of vitamin D.

Purpose: To quantitatively evaluate the retinal structural parameters of pediatric patients who were determined to be deficient in vitamin D. Design: Prospective, cross-sectional study. Methods: Retinal structural parameters, including the peripapillary retinal nerve fiber layer (RNFL), central macula, retinal layer, and choroidal thicknesses, central retinal artery equivalent (CRAE), and central retinal vein equivalent (CRVE), in pediatric subjects with vitamin D deficiency (group 1) and those without (group 2) were compared. Results: Group 1 comprised 70 individuals, while group 2 comprised 80 individuals. The mean peripapillary RNFL (except for the nasal superior sector [P = .037]), central macula, and retinal layer thicknesses were also determined to be similar in both groups (P > .05 for both groups). The mean choroidal thickness was lower in the subfoveal (P = .006) and nasal 3000-µm–diameter areas (P = .004) in group 1. The mean CRAE was determined to be lower (P = .031) and the CRVE was higher in group 1 (P = .005); it was determined that there was a significant correlation between the vitamin D level and both the CRAE (r = 0.447, P < .001) and CRVE (r = −0.320, P = .013). Conclusion: Choroidal thinning, a decrease in the CRAE, and increase in the CRVE were structural changes that occurred in the pediatric subjects who had vitamin D deficiency. The alterations in these parameters became more prominent in pediatric subjects who were determined to have lower vitamin D levels.

Purpose: To compare choroidal thickness (CT) and ocular pulse amplitude (OPA) in childhood obesity with insulin resistance (IR) and without IR. Methods: Seventy-three childhood obesity and 62 healthy children, who were both age-matched and gender-matched, comprised the study population in this prospective study. Obesity was determined as having a body mass index (BMI) – standard deviation (SD) score that was > 2 SD. Intraocular pressure (IOP) and OPA were measured using a dynamic contour tonometer. The CT measurements were performed using enhanced depth imaging optical coherence tomography at three locations, comprising at the fovea, at a position 500 µm nasal, and also at a position 500 µm temporal to the fovea. Results: Mean BMI value was 28.72 ± 4.85 in the patients with childhood obesity and 21.47 ± 1.14 in the control group. The mean IOP and OPA values were determined 15.90 ± 2.30 and 14.10 ± 2.16 mm Hg, 1.50 ± 0.28 and 1.74 ± 0.32 mm Hg in the patients with childhood obesity and the control group, respectively ( p 0.005). Conclusions: Our results showed that both OPA and CT values were significantly decreased in childhood obesity patients. We suggest further studies to verify longitudinal changes in OPA and CT, as also the evaluation of these parameters in other populations.

In this study we explored the level and severity of issues related to self-concept, depression, and anxiety in adolescents with polycystic ovary syndrome (PCOS).Cross-sectional and case-control study.The research was conducted in the outpatient Pediatric Endocrinology Clinic of Adiyaman University School of Medicine in Turkey.The study population comprised 153 patients with PCOS and 161 healthy adolescents.The Personal Information Form, State-Trait Anxiety Inventory for Children, Children's Depression Inventory, and Piers-Harris Children's Self-Concept Scale were administered to all of the participants who took part in the study.The Piers-Harris Children's Self-Concept Scale scores were lower in the PCOS group than in the control group (P .001). In addition, the scores for the Children's Depression Inventory were also significantly higher in the PCOS group (P .001). The State-Trait Anxiety Inventory for Children scores showed statistically significant higher levels of state anxiety and trait anxiety in the PCOS group (P .001).Adolescents with PCOS had lower self-concept scores, greater anxiety levels, and increased depressive symptoms than the healthy controls. Future studies are needed to examine the psychiatric problems in adolescents with PCOS.

Aim: To determine the association of vitamin D with insulin resistance and obesity in children. Methods: A total of 92 obese and 58 non-obese children aged 5-17 years were evaluated. Data were collected related to anthropometric (weight, height), and biochemical parameters (fasting plasma glucose, serum insulin, serum 25-hydroxyvitamin D, lipid profile, vitamin B12, parathormone) and physical examination (blood pressure, acanthosis nigricans, stria, lipomastia). Insulin resistance (IR) was calculated using the homeostasis model assessment (HOMA). HOMA-IR = fasting insulin level (mu U/ml) x fasting glucose (mg/dL)/405. A HOMA-IR value >2.5 was defined as insulin resistance. Results: According to the US Endocrine Society classification, vitamin D deficiency (0-20 ng/ml) was determined at significantly higher rates in the obese group than in the control group (p < 0.001). The rate of subjects with a vitamin D level of 20-30 ng/ml was significantly lower in the obese group than in the control group (p < 0.001) Within the obese group a statistically significant difference was determined between the insulin resistant and non-insulin resistant groups in respect of serum 25-hydroxyvitamin D levels (p = 0.001) and vitamin B12 levels (p = 0.001). A significant negative correlation was determined between serum 25-hydroxyvitamin D and HOMA-IR (r=-0.256, p = 0.016) and insulin (r = -0.258, p = 0.015). The systolic blood pressure (p = 0.001) and diastolic blood pressure (p = 0.003) values were significantly different in the control and obese groups. A statistically significant difference was determined between the control and obese groups in terms of the levels of insulin, HOMA-IR, HbA1c, cortisol, LDL, total cholesterol, HDL, triglyceride, hemoglobin, MCV, MPV, and calcium. Conclusion: The prevalence of vitamin D deficiency was higher in obese children compared to normal weight and overweight children. Serum 25(OH)D levels showed a negative correlation with insulin and HOMA-IR. Serum 25(OH)D is associated with insulin resistance independently of obesity. (C) 2020 Primary Care Diabetes Europe. Published by Elsevier Ltd. All rights reserved. WOS:000594532200001 2-s2.0-85087172099 PubMed: 32616391

Heterozygous inactivating mutations in the glucokinase gene cause the mildest form of maturity-onset diabetes of the adolescents. However, homozygous or compound heterozygous mutations in the glucokinase gene are a rare cause of permanent neonatal diabetes mellitus. Herein, we present the case of a male child with permanent neonatal diabetes mellitus whose mutational analysis revealed a novel homozygous deletion mutation in the glucokinase gene. The male proband of Turkish ancestry from consanguineous parents was born at 37 weeks gestation with a birth weight of 1870 g (

To evaluate the agreement between observers using Greulich-Pyle (GP) and Gilsanz-Ratib (GR) methods, between four specialities (radiology, pediatrics, pediatric endocrinology and pediatric radiology) and between observers and automated tool in the bone age estimation. A total of 99 observers participated in this questionnaire-based study. BoneXpert was used for the automated tool. Experienced, senior, and junior observers were defined by their experience, and the bone age determined by experienced observers was regarded as the ground truth. Agreement between observers was evaluated using the coefficient of variance (CV) and intraclass correlation coefficient (ICC), and they were reevaluated after adding BoneXpert to the observers. Agreement of BoneXpert, the senior, and the junior observers was also evaluated using the root-mean-square-error (RMSE) values and Blant Altman method by comparing with the ground truth. The CV ranged from 4.98% to 22.08%. The ICC were 0.980 for GP, 0.980 for GP and BoneXpert, 0.973 for GR, and 0.976 for GR and BoneXpert, and the ICC between four specialities ranged form 0.963 to 0.990. BoneXpert tool had the lowest RMSE values (0.504 years for GP atlas). Automated bone age estimation showed comparable results with GP and GR methods and its utilization may decrease inter-observer variability.

Neonatal diabetes mellitus is a monogenic disease that can present with hyperglycemia, dehydration, failure to thrive, and ketoacidosis within the first six months of life. Neonatal diabetes mellitus can be transient or permanent. Here, we describe a 10-week-old infant with transient neonatal diabetes mellitus who presented with diabetic ketoacidosis and was found to have heterozygous a de novo mutation, p.Thr1381Asn in the ABCC8 gene, which encodes the SUR1 protein. There was no family history of diabetes mellitus and the parents were negative for the mutation at ABCC8. The patient started on insulin therapy and remission of diabetes occurred at 4 months of age. The patient remained euglycemic over a 2-year follow-up period without necessitating any medicine.

Aim 17 alpha-hydroxylase enzyme deficiency is a rare form of congenital adrenal hyperplasia (CAH) and is caused by mutations in the CYP17A1 gene. The main clinical findings are delayed puberty and primary amenorrhea in girls, and disorders of sex development in boys. It can also cause hypertension and hypokalemia in both genders. In this study, we aimed to present the clinical, laboratory and genetic results of 13 patients from eight different families who were diagnosed with complete 17 alpha-hydroxylase enzyme deficiency. Methods The age, symptoms, anthropometric measurements, blood pressure, Tanner stages, and hormonal and chromosome analysis results at the time of admission were recorded from the medical records of the patients. Whole gene next-generation sequencing of CYP17A1 gene was performed to detect mutations. Multiplex ligation dependent probe amplification (MLPA) method were used to detect deletions in the seven patients who had no point mutation were detected in the CYP17A1 gene. Results The average age of the patients at the time of admission was 14.8 (range: 12.9-16.6) years. Also at this time, all patients were in adolescence and were raised as females. The karyotypes of eight patients were 46,XY, and of five patients were 46,XX. Ten patients presented with delayed puberty and primary amenorrhea, one patient with delayed puberty and hypertension, and two patients with hypertension and/or hypokalemia. Hypertension and hypokalemia were detected in nine and seven patients, respectively. Conclusions P450c17 enzyme deficiency should be considered in patients presenting with delayed puberty or primary amenorrhea in the adolescence period and diagnosed with hypergonadotropic hypogonadism, if hypertension and hypokalemia accompany. Early diagnosis prevents the occurrence of important health problems such as hypertension, psychological problems, and gender identity disorders, which affect the majority of these patients. WOS:000713575900001 2-s2.0-85118334339 PubMed: 34724156

Purpose: To assess intraocular pressure and ocular pulse amplitude changes in obese children and adolescents using dynamic contour tonometry. Methods: 137 cases, 64 obese and 73 healthy children, who were both age-matched and gender-matched, comprised the study population in this cross-sectional study. Children with body mass index values >95% for sex and age were regarded as obese. Participants underwent detailed ophthalmological examinations, including intraocular pressure measurement using a Pascal dynamic contour tonometer. Relationships between intraocular pressure and ocular pulse amplitude measurements and age, sex, obesity, pubertal status, and insulin resistance were investigated. Results: Bilateral ocular pulse amplitude was lower while intraocular pressure was higher in the obese group than in the control group (p0.005). No correlation was determined between systolic and diastolic blood pressure, homeostasis model assessment for insulin resistance, or blood lipid levels and intraocular pressure and ocular pulse amplitude. Conclusion: Our results show that obesity caused an increase in intraocular pressure and a decrease in ocular pulse amplitude independently of insulin resistance in children and adolescents. Prospective studies involving long-term follow-up of cases are now needed to assess the probable adverse effects of these ocular findings in obese children.

Vitamin D provides calcium (Ca) -phosphorus (P) metabolism and bone mineralization between bone, kidney and intestine together with parathyroid hormone and calcitonin. Nutritional rickets are caused by defective chondrocyte and osteoid mineralization in growth plaques due to vitamin D and / or calcium deficiency. In our country, free 400 IU / day vitamin D support is provided to all infants for the first year since 2005 by the Ministry of Health. Although infants of immigrant families in our country are given vitamin D support, families cannot communicate with healthcare professionals in primary health care centers, so they do not know at what dose and until when to use this supportive treatment, and can use it in under-doses or for a short time. In this article, we wanted to contribute to the literature by presenting the patient who was treated with the diagnosis of nutritional rickets and to draw attention to the problems that may occur due to the lack of communication with immigrant families., D vitamini, parathormon ve kalsitonin ile birlikte kemik, böbrek ve bağırsak arasındaki kalsiyum (Ca)-fosfor(P) metobolizmasını ve kemik mineralizasyonunu sağlamaktadır. Nütrisyonel rikets, D vitamini ve/veya kalsiyum eksikliğine bağlı olarak büyüme plaklarında kusurlu kondrosit ve osteoid mineralizasyonundan kaynaklanır. Ülkemizde Sağlık Bakanlığı tarafından 2005 yılından itibaren ilk bir yıl tüm süt çocuklarına ücretsiz 400 IU/gün D vitamini desteği yapılmaktadır. Ülkemizde bulunan göçmen aile bebeklerine D vitamini desteği verilmesine rağmen, aileler birinci basamak sağlık merkezlerindeki görevli sağlık çalışanları ile iletişim kuramadığı için bu destek tedaviyi hangi dozda ve ne zamana kadar kullanması gerektiğini bilmemekte, eksik dozda veya kısa süreli kullanabilmektedir. Biz bu makalede nutrisyonel rikets tanısı ile tedavi verilen hastayı sunarak literatüre katkı yapmak ve göçmen aileler ile iletişim eksikliğine bağlı oluşabilecek sorunlara dikkat çekmek istedik.

Copy number variation in loss of 7q21 is a genetic disorder characterized by split hand/foot malformation, hearing loss, developmental delay, myoclonus, dystonia, joint laxity, and psychiatric disorders. Osteogenesis imperfecta caused by whole gene deletions of COL1A2 is a very rare condition. We report a Turkish girl with ectrodactyly, joint laxity, multiple bone fractures, blue sclera, early teeth decay, mild learning disability, and depression. A copy number variant in loss of 4.8 Mb at chromosome 7 (q21.2q21.3) included the 58 genes including DLX5, DLX6, DYNC1I1, SLC25A13, SGCE, and COL1A2. They were identified by chromosomal microarray analysis. We compared the findings in our patients with those previously reported. This case report highlights the importance of using microarray to identify the genetic etiology in patients with ectrodactyly and osteogenesis imperfecta.

Background: Maturity-onset diabetes of the young (MODY), which is the most common cause of monogenic diabetes, has an autosomal dominant pattern of inheritance and exhibits marked clinical and genetic heterogeneity. The aim of the current study was to investigate molecular defects in patients with clinically suspected MODY using a next-generation sequencing (NGS)-based targeted gene panel. Candidate patients with clinical suspicion of MODY and their parents were included in the study. Molecular genetic analyses were performed on genomic DNA by using NGS. A panel of thirteen MODY-related genes involving ABCC8, BLK, CEL, GCK, HNF1A, HNF1B, HNF4A, INS, KCNJ11, KLF11, NEUROD1, PAX4, PDX1 was designed and subsequently implemented to screen 44 patients for genetic variants. Ten different pathogenic or likely pathogenic variants were identified in MODY-suspected patients, with a diagnostic rate of 22.7%. Eight variants of uncertain significance were also detected. Four novel pathogenic or likely pathogenic variants were detected in the genes GCK (c.1301G>T [p.Cys434Phe]), HNF1A (c.505_506delAA [p.Lys169AlafsTer18]), ABCC8 (c.3584C>T [p.Thr1195Ile]), and CEL (c.679-1G>A). Intriguingly, we were able to detect variants associated with rare forms of MODY in our study population. Our results suggest that in heterogenous diseases such as MODY, NGS analysis enables accurate identification of underlying molecular defects in a timely and cost-effective manner. Although MODY accounts for 1–2% of all diabetic cases, molecular genetic diagnosis of MODY is necessary for optimal long-term treatment and prognosis as well as for effective genetic counseling.

Amaç: Kardiyakdisfonksiyonun tip 1 diyabetin ciddi ve sık görülen komplikasyonlarından biriolduğu bilinmektedir. Bu çalışmanın amacı, tip 1 diyabet tanılı çocuk veadolesanların kardiyak etkilenmenin konvansiyonel ekokardiyografi ile erkendönemde değerlendirilmesiydi.Gereç ve Yöntem: Çalışmada53 tip 1 Diyabet tanılı çocuk ve adolesan ile benzer yaş ve cinsiyette 55sağlıklı çocuk ve adolesan yer almaktadır. Katılımcıların, boy, kilo, vücutkitle indeksi ve kan basıncı değerleri kaydedildi. Tip 1 diyabetli hastagrubunda glisemik kontrol için glikolize hemoglobin ölçümü yapıldı. Tümkatılımcıların miyokardiyal sistolik ve diyastolik fonksiyonları konvansiyonel ekokardiyografi yöntemi ile değerlendirildi.Bulgular: Tip 1diyabetli 53 hastada kontrol grubuna göre triküspid kapağın A dalga akım hızıanlamlı yüksek (p=0,04) ve triküspid E/A oranı ise anlamlı düşük (p=0,02) bulundu. Sol ventrikül fraksiyonelkısalma ve ejeksiyon fraksiyonu hasta grubunda kontrole göre daha düşükbulundu, ancak istatiksel olarak anlamlı değildi (p değerleri sırasıyla 0,675,0,933). Hasta grubunda glikolize hemoglobin düzeyi ile sol ventrikül sistolikfonksiyonu arasında ise istatiksel olarak anlamlı negatif korelasyon bulundu(p= 0,049, r= -0,669).Sonuç: Tip 1 diyabettanısı olan çocuk ve adolesanlarda erken dönemde bile ekokardiyografik olarak sağventrikülde diyastolik disfonksiyon ve glikolize hemoglobin düzeyi ile sol ventrikül ejeksiyon fraksiyonuarasında negatif korelasyonun gösterilmesi, kötü glisemik kontrollü diyabetik hastalarınperyodik olarak kardiyak değerlendirmelerinin noninvazif tanı yöntemi olanekokardiyografi ile yapılmasının gerekli olduğunu düşündürmektedir, Objective: It is known that cardiac dysfunctionis one of the serious and common complications of type 1 diabetes. The aim ofthis study was to evaluation early cardiac functions of children and adolescents with type 1 diabetesby conventional echocardiography.Material and Method:This study included 53 children and adolescents with type 1 diabetes and 55age-sex matched healty children and adolescents. The values of height, weight, body-mass index and bloodpressure of the all participants were recorded. Glycated hemoglobin measuringwas performed for glycemic control in patients with type 1 diabetes. Myocardialsystolic and diastolic functions of all paticipants were assessed byconventional echocardiography.Results: A wavevelocity of tricuspid valve was significantly higher (p=0,04) and tricuspid E/Arate was significantly less (p=0,02) in patients with type 1 diabetes than controls. Fractionalshortening and ejection fraction of left ventricular revealed less in thepatient groups than controls, but theywere no statistically significant differences (p values 0,675,0,933respectively). Statistically significant negative correlation was noted betweenlevel of glycated hemoglobin and ejection fraction of left ventricular inpatients group (p=0,049, r= -0,669).Conclusion: Determinationof right ventricular diastolicdysfunction and negative corrrelation between level of glycated hemoglobin and left ventricular ejection fraction inchildren and adolescents with type 1 diabetes suggest, that cardiac evaluationof poor glycemic controlled diabetic patients is necessary periodicallyperforming by echocardiography, which is noninvasive diagnostic method.

Buyukinan, Muammer/0000-0002-2937-823X; Kilinc, Suna/0000-0002-0760-2640; AYDIN, MURAT/0000-0001-7374-229X; bayramoglu, elvan/0000-0002-6732-8823; Aycan, Zehra/0000-0003-4584-2976; esen, ihsan/0000-0003-1700-6778; Onal, Hasan/0000-0001-9676-7086; Kor, Yilmaz/0000-0003-1645-5416; bolu, semih/0000-0002-8183-2188 WOS:000469271100008 PubMed ID: 30488822 Objective: To determine the demographic and biochemical features of childhood and juvenile thyrotoxicosis and treatment outcome. Methods: We reviewed the records of children from 22 centers in Turkey who were diagnosed with thyrotoxicosis between 2007 to 2017. Results: A total of 503 children had been diagnosed with thyrotoxicosis at the centers during the study period. Of these, 375 (74.6%) had been diagnosed with Graves' disease (GD), 75 (14.9%) with hashitoxicosis and 53 (10.5%) with other less common causes of thyrotoxicosis. The most common presenting features in children with GD or hashitoxicosis were tachycardia and/or palpitations, weight loss and excessive sweating. The cumulative remission rate was 17.6% in 370 patients with GD who had received anti-thyroid drugs (ATDs) for initial treatment. The median (range) treatment period was 22.8 (0.3-127) months. No variables predictive of achieving remission were identified. Twenty-seven received second-line treatment because of poor disease control and/or adverse events associated with ATDs. Total thyroidectomy was performed in 17 patients with no recurrence of thyrotoxicosis and all became hypothyroid. Ten patients received radioiodine and six became hypothyroid, one remained hyperthyroid and restarted ATDs and one patient achieved remission. TWo patients were lost to follow up. Conclusion: This study has demonstrated that using ATDs is the generally accepted first-line approach and there seems to be low remission rate with ATDs in pediatric GD patients in Turkey.

Aim: The purpose of this study was to evaluate the results of gonadotropin-releasing hormone (GnRH) stimulation tests administered to girls presenting with breast development before the age of eight.Materials and Methods: Forty-nine cases (19 true precocious puberty and 30 premature thelarche) administered GnRH tests due to breast development were included in the study. Patient data were obtained through a retrospective examination of file records. Cases’ age at diagnosis, bone age (BA), and basal and gonadotropin levels hormone levels were recorded.Results: A peak luteinizing hormone (LH) threshold of 4.58 IU/L was 84% sensitive and 90% specific in differentiating of two groups, while a peak LH/ follicle-stimulating hormone (FSH) threshold >0.27 exhibited 74% sensitivity and 80% specificity, and a BA- calendar age difference of 1.13 exhibited 63% sensitivity and 80% specificity.Conclusion: Peak LH ≥ 4.58 IU/L and peak LH/FSH ≥0.27 threshold values can differentiate true precocious puberty and premature thelarche in girls presenting with early breast development., Amaç: Bu çalışmada 8 yaşından önce meme gelişimi ile çocuk endokrin polikliniğine başvuran kız çocuklarına uygulanan gonadotropin salgılatıcı hormon (GnRH) uyarı test sonuçlarının değerlendirilmesi amaçlanmıştır.Gereç ve Yöntem: Hasta verileri dosya kayıtlarının geriye yönelik incelenmesi sonucu elde edilen bu çalışmada meme gelişimi nedeniyle GnRH uyarı testi yapılmış 49 kız olgu (19 gerçek erken puberte, 30 prematür telarş) alındı. Olguların tanı yaşı, antropometrik ölçümleri, kemik yaşı (KY), bazal ve uyarılmış gonadotropin düzeyleri kaydedildi.Bulgular: İki grubu ayırt etmek için zirve luteinizan hormon (LH) sınır değeri 4,58 IU/L alındığında duyarlılık %84 ve özgüllük %90, zirve LH/folikül stimüle edici hormon (FSH) sınır değeri >0,27 alındığında duyarlılık %74 ve özgüllük %80, KY-takvim yaşı farkı 1,13 alındığında duyarlılık %63 ve özgüllük %80 saptandı.Sonuç: Erken meme gelişimi ile başvuran kız çocuklarında zirve LH ≥ 4,58 IU/L ve zirve LH/FSH ≥0,27 sınır değerleri gerçek erken puberteyi prematür telarştan ayırt edebilir.

Objective: We conducted the present study to observe potential short-term benefits or risks of low-carb diet (LCD). Methods: This is a prospective randomized cross-over study. Type 1 diabetic girls were hospitalized in ternary groups for 7 days and each group randomly started with LCD or regular diet. Continuous glucose monitoring (CGM) was performed between 0 and 168 h. Results: Twenty-eight subjects completed the study. Total energy, protein, and fat consumption were high (P < 0.001); carbohydrate consumption and rapidly acting insulin dose were low (P < 0.001 and P = 0.002, respectively) during LCD. Morning postprandial, noon postprandial, and evening preprandial capillary blood sugar levels were lower during LCD (P = 0.013, 0.018, and 0.048, respectively). Conclusion: LCD may have the advantage of better glycemic control despite lower insulin dose which is a favorable outcome with regard to weight control and atherosclerosis prevention. No adverse events were observed. © 2021 Indian Journal of Endocrinology and Metabolism | Published by Wolters Kluwer - Medknow 2016.04.03.416; Düzce Üniversitesi The study received support from the Duzce University, Department of Scientific Research Projects (Grant Number: 2016.04.03.416) The study received support from the Duzce University, Department of Scientific Research Projects ?Grant Number: 2016.04.03.416). 2-s2.0-85112649061

Mucolipidosis III gamma (ML III gamma) is a slowly progressive disorder that affects multiple parts of the body such as the skeleton, joints, and connective tissue structures. It is caused by pathogenic variants in the GNPTG gene that provides instructions for producing the gamma subunit of GlcNAc-1-phosphotransferase. In this study we aim to characterize clinical findings and biological insights on two novel GNPTG variants causing ML III gamma phenotypes with varying severity. We report on two siblings with ML III gamma bearing the previously undescribed c.477C > G (p.Y159*) nonsense variant in a homozygous state as well as a patient with ML III gamma bearing the novel c.110 + 19_111-17del variant in a homozygous state. These variants were revealed by whole-exome sequencing and Sanger sequencing, respectively. Their parents, who are heterozygotes for the same mutation, are healthy. The clinical and radiographic presentation of ML III gamma in our patients who had c.477C > G (p.Y159*) variant is consistent with a relatively severe form of the disease, which is further supported by a working three-dimensional model of the GlcNAc-1-phosphotransferase gamma subunit. On the other hand, it is seen that our patient who carries the c.110 + 19_111-17del variant has a milder phenotype. Our findings help broaden the spectrum of GNPTG variants causing ML III gamma and offer structural and mechanistic insights into loss of GlcNAc-1-phosphotransferase gamma subunit function. WOS:000612593400005 2-s2.0-85099867170 PubMed: 33507475

Aim: The study aims 1) to determine the clinical status of obese children at the admittance to the pediatric endocrinology referral center 2) to investigate the efficiency and compliance of the low-carb diet in a pediatric population with or without exercise, metformin Material and Methods: All subjects with the complaint of obesity and BMI percentile >95 were recruited from January 2012-August 2014. We evaluated basal retrospectively, recommended low carbohydrate family-wide eating practice and exercise to all, and metformin to selected cases, and recorded Self-reported adherence at first, third, sixth, and twelfth months. Results: Thirty-six subjects used metformin with a higher ratio of weight loss (90.0%, p=0.010) without a difference in the number of lost kilograms. In 160 cases without metformin; diet only, exercise only, and both diet and exercise groups lost weight significantly according to neither diet nor exercise group (OR:12.08, 95% CI 3.93-41.66, p

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 GCK-MODY while less than 20\% of cases were diagnosed with HNF1A-MODY.

SCI-Expanded PMID: 33565750 Q3 WOS:000688079700008 Objective: To investigate clinical characteristics and response to growth hormone (GH) treatment in patients with Prader-Willi syndrome (PWS) in Turkey. Methods: The data of 52 PWS patients from ten centers was retrospectively analyzed. A nation-wide, web-based data system was used for data collection. Demographic, clinical, genetic, and laboratory data and follow-up information of the patients were evaluated. Results: The median age of patients at presentation was 1.5 years, and 50% were females. Genetic analysis showed microdeletion in 69.2%, uniparental disomy in 11.5%, imprinting defect in 1.9% and methylation abnormality in 17.3%. Hypotonia (55.7%), feeding difficulties (36.5%) and obesity (30.7%) were the most common complaints. Cryptorchidism and micropenis were present in 69.2% and 15.3% of males, respectively. At presentation, 25% had short stature, 44.2% were obese, 9.6% were overweight and 17.3% were underweight. Median age of obese patients was significantly higher than underweight patients. Central hypothyroidism and adrenal insufficiency were present in 30.7% and 4.7%, respectively. Hypogonadism was present in 75% at normal age of puberty. GH treatment was started in 40% at a mean age of 4.7±2.7 years. After two years of GH treatment, a significant increase in height SDS was observed. However, body mass index (BMI) standard deviation (SDS) remained unchanged. Conclusion: The most frequent complaints were hypotonia and feeding difficulty at first presentation. Obesity was the initial finding in 44.2%. GH treatment was started in less than half of the patients. While GH treatment significantly increased height SDS, BMI SDS remained unchanged, possibly due to the relatively older age at GH start. https://pubmed.ncbi.nlm.nih.gov/33565750/

Here we report a Turkish child with Ellis-van Creveld syndrome whose presentation was short strature, hypodontia, narrow thorax, dysplastic nails, cardiac abnormality and polydactyly. Genetic analysis revealed novel homozygous mutation in the EVC2 gene (c.3533_3546del). Further research is needed to elucidate the pathophysiological course

The Cornelia de Lange syndrome (CdLS) is a genetic disorder characterized by multisystemic malformations. CdLS is due to mutations in one of the following genes: NIPBL, SMC1A, SMC3, RAD21, and HDAC8. On the other hand, 10q11.2 deletions cause a wide range of presentations in patients. Approximately 40 cases with variable deletions of 10q11.2 have been reported in literature. Some of the reported cases involve the coexistence of duplication or deletion affecting one copy of the chromosome. However, deletion of chromosome 10q11.22-q11.23 and CdLS syndrome caused by NIPBL gene mutations have not been reported previously. This report, therefore, is the first to report their coexistence together.

PROP-1 genindeki bozukluklar somatrop, tirotrop, laktotrop, gonadotrop ve kortikotropları etkileyerek klinik bulgulara yol açar. PROP-1 gen mutasyonu olan vakalarda ilk bulgu büyüme hormonu eksikliği ve santral hipotiroidi ile ilişkili büyüme geriliğidir. Diğer hormon eksiklikleri zamanla eklenir. Burada, PROP-1 geninde silme mutasyonu olan iki kız kardeşi bildirdik. Ebeveynler birinci derece kuzendi. Büyüme gelişme geriliği ve boy kısalığı yakınması ile başvuran olgulardan indeks kız hasta 4,6 yaşında, kız kardeşi ise 1,9 yaşındaydı. Her iki kız kardeşte de santral hipotiroidizm ve büyüme hormonu eksikliği (BH) belirlendi. Genetik analizde, PROP-1 geninde homozigot delesyon mutasyonu saptandı. Büyüme hormon eksikliği ve santral hipotiroidi ile başvuran hastalarda PROP-1 mutasyonu düşünülmeli ve genetik analiz ile tanı doğrulanmalıdır., Defects in the PROP-1 gene produce clinical findings by affecting somatotrophs, thyrotrophs, lactotrophs, gonadotrophs and corticotrophs. The first finding in cases with PROP-1 gene mutation is growth retardation associated with growth hormone (GH) deficiency and central hypothyroidism. Other hormone deficiencies are added over time. We describe two sisters with deletion mutation in the PROP-1 gene. The parents were first-degree cousins. The female patient identified as the index case was 4.6 and the other sister was 1.9 years old when they presented with failure to thrive and short stature. Central hypothyroidism and GH deficiency was determined in both sisters. Homozygous deletion mutation was determined in the PROP-1 gene at genetic analysis. PROP-1 mutation should be considered in patients presenting with combined GH deficiency and central hypothyroidism, and the diagnosis must be confirmed with genetic analysis.

Background/aim: The goal of this study was to compare differences in hand and wrist shapes and to evaluate these according to growth and allometry in children on radiographs related to bone age. Materials and methods: The study included 263 males and 189 females. A total of 452 left hand and wrist radiographs were retrospectively collected. Standard anatomical landmarks marked on radiographs. Results: There were seen to be significant differences in comparisons of hand and wrist shapes according to sex (P = 0.009). The most suitable model in the growth models was seen as the Gompertz growth model for both females and males (model P < 0.001). For the relationship between shape and size to evaluate allometry, significant models were obtained in females (model P = 0.017, MSE = 0.0002) and in males (model P < 0.001, MSE = 0.0002). In our study, the difference between the sexes was found mostly in the radiocarpal region. It was observed that the deformation of the carpal bones started in the distal row carpal bones. Conclusion: Significant differences were found in hand and wrist shapes according to sex. Models for growth and allometry of hand and wrist shapes were found to be significant in children.

Amaç: Bu çalışmada, hastanemiz erişkin ve çocuk endokrin polikliniklerinde diabetes mellitus (DM) ve obezite tanısı almış hastalarda, üriner sistem enfeksiyon etkeni olarak izole edilen patojenlerin dağılımı, bu patojenlerin antimikrobiyallere direnç oranları, glukozüri ve piyüri varlığının araştırılması amaçlanmıştır.Gereç ve Yöntemler: Ocak 2012-Şubat 2014 tarihleri arasında Düzce Üniversitesi Tıp Fakültesi Hastanesi Erişkin ve Çocuk Endokrin polikliniklerinde DM ve obezite tanısı almış 107 hastaya ait kayıtlar geriye dönük olarak incelenmiştir. Bu hastalardan alınan idrar örneklerinin biyokimyasal/mikrobiyolojik laboratuvar sonuçları değerlendirilmiştir. Verilerin istatistiksel değerlendirmesinde SPSS 22.0 programı ile Fisher Exact ve Pearson Chi-Square testleri kullanılmıştır.Bulgular: Hastaların 75 (%70)’i çocuk, 32 (%30)’si erişkin; 84 (%78,5)’ü kadın, 23 (%21,5)’ü erkek, yaş ortalaması 25,1±23 idi. Diabetes mellitus ve obezite tanısı olan hasta sayısı sırasıyla 76 (%71,0) ve 31 (%29,0) idi. İdrar kültürlerinin 28 (%26)’inde (DM tanılı hastaların %30,2’si ve obezite tanılı hastaların %16,1’inde) bakteri üremesi olmuştur. Etken olarak en sık E. coli saptanmıştır. Piyüri ve glikozüri olan hastalarda daha fazla bakteri üremesi saptanmış olup, piyüri-bakteri üremesi arasında istatistiksel olarak anlamlı ilişki bulunmuşken, glikozüri ile anlamlı ilişki tespit edilmemiştir.Sonuç: Glukozürinin, her ne kadar enfeksiyon riskini artırsa da tek başına belirleyici bir parametre olamayacağı ancak hastaların mevcut risk göz önünde tutularak değerlendirilmeleri gerektiği; ayrıca piyüri varlığı ile idrar yolu enfeksiyonu arasında kuvvetli bir ilişki olduğu görülmüştür. Ancak tam idrar tetkiki sonucuna göre ampirik tedaviye başlamak yerine idrar kültüründe izole edilen etkene ve duyarlılık profiline göre antibiyotik tedavisinin başlanmasının uygun olacağı düşünülmüştür.

Aim: The purpose of this study was to compare the results of L-dopa and clonidine GH stimulation tests applied in children with short stature and to identify which of these tests should be primarily selected. Materials and Methods: The records of 68 patients aged between 2.5 and 16.6 years presenting to the pediatric endocrinology clinic with short stature and undergoing GH stimulation tests between September 2016 and February 2021 were evaluated retrospectively. Cases with GH levels

WOS: 000419627200015 KFS is characterized by fusion of cervical vertebrae that restricts the range of motion of the neck, short neck and low posterior hairline. We presented at a female KFS case within bilateral Sprengel deformity, congenital unilateral renal agenesis and correlation by MEFV gene mutation. Physical examination, routin biochemical evaluation, radiological evaluation of the case were performed and family history was taken. Additionally, chromosomal analysis, complete exom sequencing analysis of MEFV gene and the sequencing analysis of GDF6 gene were conducted. She had short neck, limitation of the movement of head and neck and a low posterior hairline, bilateral sprengel deformity, mild scoliosis and congenital unilateral renal agenesis. Also, she had partial vertebral body fusion. She had cervical kyphosis, the fusiform enlargement of the spinal canal, increased thickness of the cervical spinal cord, cystic enlargement, which reached about 1.5cm long in central of the spinal cord and normal caryotype. She had M680I(G>C) mutation. The patient analysis result was normal for GDF6 gene. To our knowledge, this is the first reported case together with KFS, bilateral Sprengel deformity, congenital unilateral renal agenesis and FMF mutation. Due to neurological deficits can be seen after minor trauma in cases with KFS, she should be careful and avoid from heavy exercise. She had cysts in her liver and spleen and had renal failure her family history. Thus the case has been evaluated for policystic kidney disorder. Additionally, she had MEFV gene mutation, she should be followed for kidney failure during her life for amyloidosis risk.

Background. Patients with 17?-hydroxylase deficiency (17 OHD) usually present with tall stature and eunuchoid features, rather than growth retardation. However, unlike the classic form of the disease, short stature due to a lack of pubertal growth spurt and sex hormone deficiency was present in our four cases. We wanted to emphasize that short stature might be the cause of first presentation in patients with 17 OHD. Cases. We report five patients of Kurdish origin with 17 OHD, four of whom had short stature; two presented because of short stature and two were detected as having short stature. The external genitalia had a female appearance and was prepubertal in all cases. Hypertension was also detected in four of the patients. Serum biochemical and hormonal analyses were performed for each patient. Laboratory data suggesting severe growth hormone (GH) deficiency were obtained from one patient, while the other had a familial history suggesting constitutional delay of growth and puberty (CDGP). Whole exome sequence analysis of the CYP17A1 gene was performed on all patients. STR fragment analysis and multiplex ligation dependent probe amplification (MLPA) analysis was also performed to detect mutations associated with congenital adrenal hyperplasia (CAH) in the CYP17A1 gene. No mutation was detected in the whole exome sequence analysis of the CYP17A1 gene in all five patients, although wide deletions were identified in the 1st–6th exons of this gene at MLPA analysis. Conclusions. Patients with 17?-hydroxylase deficiency can present with short stature because they have no pubertal growth spurt during adolescence. Therefore, 17 OHD should be considered in the differential diagnosis of patients with delayed puberty and short stature. WOS:000582494600018 2-s2.0-85094182824