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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.

Ellis‐van Creveld syndrome 10‐year‐old Turkish girl and her parents were first degree cousins. A novel pathogenic variant (p.Glu1178Glyfs*82) was detected in the EVC2 gene in patient. She had no peg‐shaped teeth, multiple frenula, and limb shortness., Ellis‐van Creveld syndrome 10‐year‐old Turkish girl and her parents were first degree cousins. A novel pathogenic variant (p.Glu1178Glyfs*82) was detected in the EVC2 gene in patient. She had no peg‐shaped teeth, multiple frenula, and limb shortness

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 (

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

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.

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.

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

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

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.

Objective To investigate phenotype-genotype correlations in Turkish children with glucokinase gene mutations leading to Maturity-onset diabetes in young (GCK-MODY). Methods Retrospective analysis of 40 patients (16 girls) aged under 18 with GCK-MODY. Results Mean (SD) serum fasting blood glucose level was 6.79 (0.59) mmol/L and the mean (SD) HbA1c level at diagnosis was 6.3% (0.5). Sixteen different variations were detected in the GCK genes of the 40 cases; 33 missense mutations, 6 deletions, and one nonsense mutation. The birthweight of infants with deletion mutation was significantly lower than that of infants with other mutations [2460 (353.66) g vs 2944.11 (502.08) g]. Conclusion GCK-MODY patients with deletion mutation inherited from mothers had lower birthweight and higher fasting blood glucose than those with other inherited mutations but similar HbA1c values. WOS:000591119000012 2-s2.0-85096309947 PubMed: 32533685

Elhan, Atilla Halil/0000-0003-3324-248X; siklar, zeynep/0000-0003-0921-2694; Turan, Serap/0000-0002-5172-5402; ABALI, SAYGIN/0000-0001-6552-2801; Abaci, Ayhan/0000-0002-1812-0321; Buyukinan, Muammer/0000-0002-2937-823X; GUVEN, AYLA/0000-0002-2026-1326; yilmaz, gulay can/0000-0003-0525-1231; berberoglu, merih/0000-0003-3102-0242; Ozgen, Ilker Tolga/0000-0001-6592-9652 WOS: 000385025700008 PubMed: 27125300 Objective: Noonan syndrome (NS) is a multisystem disorder, and short stature is its most striking manifestation. Optimal growth hormone (GH) treatment for NS is still controversial. In this study, using a nationwide registration system, we aimed to evaluate the growth characteristics and the clinical features of NS patients in Turkey and their growth response to GH treatment. Methods: Children and adolescents with a diagnosis of NS were included inthe study. Laboratory assessment including standard GH stimulation test results were evaluated. Height increment of patients with or without GH treatment were analyzed after three years of therapy. Results: A total of 124 NS patients from different centers were entered in the web-based system. Short stature and typical face appearance were the most frequently encountered diagnostic features of our patients. Of the 84 patients who were followed long-term, 47 hadreceived recombinant human GH (rhGH). In this group of 47 patients, height standard deviation score (HSDS) increased from -3.62 +/- 1.14 to -2.85 +/- 0.96 after three years of therapy, indicating significant differences from the patients who did not receive GH treatment. PTPN11 gene was analyzed in 61 patients, and 64% of these patients were found to have a mutation. HSDS at admission was similar in patients with or without PTPN11 gene mutation. Conclusion: A diagnosis of NS should be kept in mind in all patients with short stature showing systemic clinical findings. GH therapy is effective for improvement of short stature especially in the first two years of treatment. Further studies are needed for optimisation of GH therapy and evaluation of final height data in NS patients. Turkish Pediatric Endocrinology and Diabetes Society [042014] This work was supported by the Turkish Pediatric Endocrinology and Diabetes Society (Grant Number: 042014).

Aim: Turner syndrome (TS) is the most common chromosomal disorder in girls. Several systems can be adversely affected in association with genetic disorders. The purpose of this study was to examine the karyotype distribution in patients with TS, frequently seen clinical characteristics, and their relations with the karyotypes.Materials and Methods: Fifty-four cases ranging in age between two and 40 years and diagnosed with TS at three different centers in Turkey between May 2013 and June 2019 were evaluated retrospectively. Results: The patients’ mean age was 17.5±9.3 years. The most common chromosomal anomaly was 45,X (35.2%), followed by low-level mosaic (20.4%), isochromosome (18.5%), deletion (9.3%) and other chromosomal disorders (16.7%). The most common presentation symptom was short stature (66.6%), followed by infertility (12.9%). Cardiovascular pathology was determined in 33.3% of cases, hypothyroidism in 25.9%, ophthalmological problems in 24.1%, renal anomaly in 18.5%, hearing loss in 12.9%, and scoliosis in 9.3% and mental retardation in 16.6%. Obesity was present in 33.3% of cases.Conclusion: Turner Syndrome is a chromosomal disorder affecting several systems. Clinical manifestations in patients with TS can be affected to varying degrees depending on the karyotype.

Turnersendromu (TS), kadınlarda ikinci X kromozomunun kısmi veya tam kaybı ya da Xkromozomunun yapısal anomalileri sonucu oluşan ve boy kısalığı, lenfödem,kardiyak anomaliler, primer over yetmezliği ve nörokognitif problemler gibiklinik bulgular ile karakterize bir hastalıktır. Prevalansı 1/2000-1/2500 canlıdişi doğum olarak ortaya konmuştur. Hastaların TS tanısı almaları geniş yaşaralıklarında olabilmektedir. TS’luhastalar farklı karyotip kompozisyonları göstermekte bu da hastalarda farklıklinik manifestasyonlara neden olmaktadır. Yaptığımız çalışmadasitogenetik analizi sonuçlarına göre 9 hastada 45,X (%45), 1 hastada 46,X,der(X),t(X,X)(p.11.2;q22)/45,X (%5), 1 hastada 45,X/46,X,del(X)(p.11.2)(%5), 1 hastada 45,X/47,XXX (%5), 4 hastada 45,X/46,XX (%20), 2 hastada46,X,i(X)(q10)/45,X (%10), 1 hastada 46,X,i(X)(q10) (%5) ve 1 hastada46,X,del(X)(p21) (%5) kromozomal kompozisyon tespit edildi.Turner sendromlu olgularımızın karyotip kompozisyonlarını, başvuru şikayetlerini,antropometrik verileriyle birlikte literatüre katkı amaçlı sunduk., Turner syndrome (TS) is the result of partial or complete lossof the second X chromosome in women or structural anomalies of the Xchromosome, and is characterized by clinical manifestations such as shortstature, lymphedema, cardiac anomalies, primer over failure and neurocognitiveproblems. The prevalence is 1/2000-1/2500 live born female children. Patientswith Turner syndrome can be diagnosed at a wide age of range. Patients with TSshow different karyotype compositions, which cause different clinicalmanifestations in cases. According to the results of cytogenetic analysis inour study, it was detected that 9 patients were 45, X (45%), 1 patient was 46,X,der(X),t(X,X)(p.11.2;q22)/45,X (%5), 1 patient was45,X/46,X,del(X)(p.11.2) (%5), 1 patient was 45,X/47,XXX (%5), 4 patients were45,X/46,XX (%20), 2 patients were 46,X,i(X)(q10)/45,X (%10), 1 patient was46,X,i(X)(q10) (%5),1 patient was 46,X,del(X)(p21) (%5) chromosomal composition. We have presented our patients with Turner syndrometogether with the reasons for application complaints and anthropometric dataswith karyotype compositions for contribution to the literature.

PubMedID: 29353264 The aim of the study was to assess the response to growth hormone (GH) treatment in very young patients with GH deficiency (GHD) through a national, multi-center study. Possible factors affecting growth response were assessed (especially mini-puberty). Medical reports of GHD patients in whom treatment was initiated between 0 and 3 years of age were retrospectively evaluated. The cohort numbered 67. The diagnosis age was 12.4±8.6 months, peak GH stimulation test response (at diagnosis) as 1.0±1.4 ng/mL. The first and second years length gain was 15.0±4.3 and 10.4±3.4 cm. Weight gain had the largest effect on first year growth response; whereas weight gain and GH dose were both important factors affecting second year growth response. In the multiple pituitary hormone deficiency (MPHD) group (n=50), first year GH response was significantly greater than in the isolated GH deficiency (IGHD) group (n=17) (p=0.030). In addition first year growth response of infants starting GH between 0 and 12 months of age (n=24) was significantly greater than those who started treatment between 12 and 36 months of age (n=43) (p

Aim: Type 1 diabetes which is a chronic metabolic disease can affect the quality of life of a person. The aim of this study is to evaluate the life quality of diabetic children and adolescents who are diagnosed with type 1 diabetes mellitus and compare the perceptions of life quality through the life quality scale before and after summer camp. Materials and Method: A scale of life quality was applied to 31 children/adolescents with type 1 Diabetes Mellitus between ages 9-16 years in the Diabetes Summer Camp. Results: The perceived quality of life of children / adolescents with type 1 diabetes were better after diabetes camp (p< 0.05). When the Quality of Life Scale scores compared by gender, it was found that the emotional well-being and self esteem subscale scores and the total scores of boys were statistically significantly higher after diabetes camp. But the Quality of Life Scale scores of girls did not show a significant increase. Conclusion: This study showed that the diabetes camp, which promoted the ability of diabetic children and adolescents to manage their illnesses, changed the perception of quality of life of male diabetic patients in particular. However, repeating similar studies involving a larger number of cases will allow better evaluation of the results of such activities.

Objective: Because congenital adrenal hiperplazi (CAH) and autism spectrum sisorders (ASD) is rarely seen, it is difficult to assess whether the increased incidence of ASD in girls with CAH. ASD behaviors and 2D:4D finger ratio changes in patients with androgen overproduction have been reported. The aim of this study is determining the 2D:4D finger ratios and ASD features in girls with CAH and normal control group. Methods: The study group will consist of thirty female children and adolescents between the ages of 3 and 15 who are diagnosed with classic CAH who were followed at the Pediatric Endocrinology Department of Düzce University Medical Faculty Hospital. For the control group, 30 healthy children and adolescents equalized with CAH patients in terms of age and gender will be taken. Al patients and controls examined for psychiatric disorders. by clinicians Patients and control groups filled Autism Behavior Checlist and semistructured sociodemogrphic form that evaluated the gender, age, pregnancy and birth complications, history of mothers’ cigarette and alcohol use. 2D:4D ratios were measured in both of control and CAH groups. Results: KAH group right and left hand 2D:4D ratios were statistically lower compared to controls and also lower 2D:4D ratios had association with high ABC scores. When compared with control group, CAH group ABC scores were significantly higher. In KAH group there was a pozitive correlation between 2D:4D ratios and ABC scores. Conclusion: In light of present study findings, suggest that high androjen may have effect on low 2D:4D ratios and high ASD symptoms. Further researchs with a large sample are needed in this field. © 2017, Cukurova University, Faculty of Medicine. All rights reserved.

ABALI, SAYGIN/0000-0001-6552-2801; Gurbuz, Fatih/0000-0003-2160-9838; Hatun, Sukru/0000-0003-1633-9570; Abaci, Ayhan/0000-0002-1812-0321; Turan, Serap/0000-0002-5172-5402; Buyukinan, Muammer/0000-0002-2937-823X; yuksel, bilgin/0000-0003-4378-3255; Ozgen, Ilker Tolga/0000-0001-6592-9652; binay, cigdem/0000-0002-7749-8818; ozkan, Behzat/0000-0002-9153-8409; Demir, Korcan/0000-0002-8334-2422; Eren, Erdal/0000-0002-1684-1053 WOS: 000373099300016 PubMed: 26788866 To evaluate the anthropometric features of girls with Turner syndrome (TS) at birth and presentation and the effect of karyotype on these parameters. Data were collected from 842 patients with TS from 35 different centers, who were followed-up between 1984 and 2014 and whose diagnosis age ranged from birth to 18 years. Of the 842 patients, 122 girls who received growth hormone, estrogen or oxandrolone were excluded, and 720 girls were included in the study. In this cohort, the frequency of small for gestational age (SGA) birth was 33%. The frequency of SGA birth was 4.2% (2/48) in preterm and 36% (174/483) in term neonates (P

WOS: 000360842500004, PubMed: 26831551, Objective: Children with Turner syndrome (TS) have a specific growth pattern that is quite different from that of healthy children. Many countries have population-specific growth charts for TS. Considering national and ethnic differences, we undertook this multicenter collaborative study to construct growth charts and reference values for height, weight and body mass index (BMI) from 3 years of age to adulthood for spontaneous growth of Turkish girls with TS. Methods: Cross-sectional height and weight data of 842 patients with TS, younger than 18 years of age and before starting any therapy, were evaluated. Results: The data were processed to calculate the 3rd, 10th, 25th, 50th, 75th, 90th and 97th percentile values for defined ages and to construct growth curves for height-for-age, weight-for-age and BMI-for-age of girls with TS. The growth pattern of TS girls in this series resembled the growth pattern of TS girls in other reports, but there were differences in height between our series and the others. Conclusion: This study provides disease-specific growth charts for Turkish girls with TS. These disease-specific national growth charts will serve to improve the evaluation of growth and its management with growth-promoting therapeutic agents in TS patients., Turkish Pediatric Endocrinology and Diabetes Society [012013], This work was supported by the Turkish Pediatric Endocrinology and Diabetes Society (Grand number: 012013).

WOS: 000351307200005, PubMed ID: 25800473, Objective: Turner syndrome (TS) is a chromosomal disorder caused by complete or partial X chromosome monosomy that manifests various clinical features depending on the karyotype and on the genetic background of affected girls. This study aimed to systematically investigate the key clinical features of TS in relationship to karyotype in a large pediatric Turkish patient population. Methods: Our retrospective study included 842 karyotype-proven TS patients aged 0-18 years who were evaluated in 35 different centers in Turkey in the years 2013-2014. Results: The most common karyotype was 45, X (50.7%), followed by 45, X/46, XX (10.8%), 46, X, i(Xq) (10.1%) and 45, X/46, X, i(Xq) (9.5%). Mean age at diagnosis was 10.2 +/- 4.4 years. The most common presenting complaints were short stature and delayed puberty. Among patients diagnosed before age one year, the ratio of karyotype 45, X was significantly higher than that of other karyotype groups. Cardiac defects (bicuspid aortic valve, coarctation of the aorta and aortic stenosis) were the most common congenital anomalies, occurring in 25% of the TS cases. This was followed by urinary system anomalies (horseshoe kidney, double collector duct system and renal rotation) detected in 16.3%. Hashimoto's thyroiditis was found in 11.1% of patients, gastrointestinal abnormalities in 8.9%, ear nose and throat problems in 22.6%, dermatologic problems in 21.8% and osteoporosis in 15.3%. Learning difficulties and/or psychosocial problems were encountered in 39.1%. Insulin resistance and impaired fasting glucose were detected in 3.4% and 2.2%, respectively. Dyslipidemia prevalence was 11.4%. Conclusion: This comprehensive study systematically evaluated the largest group of karyotype-proven TS girls to date. The karyotype distribution, congenital anomaly and comorbidity profile closely parallel that from other countries and support the need for close medical surveillance of these complex patients throughout their lifespan.