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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.

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

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.

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

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.

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

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/

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.

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).

ABALI, SAYGIN/0000-0001-6552-2801; Turan, Serap/0000-0002-5172-5402; Hatun, Sukru/0000-0003-1633-9570; Akgun, Abdurrahman/0000-0002-2917-2469; yesiltepe mutlu, gul/0000-0003-3919-7763; Ozgen, Ilker Tolga/0000-0001-6592-9652 WOS: 000451667000006 PubMed: 29789274 Objective: To assess the incidence of type I diabetes mellitus (T1DM) in children under 18 years of age in the northwest region of Turkey during 2013-2015. Methods: All newly diagnosed T1DM cases were recorded prospectively during 2013-2015. Total, as well as gender and age group specific (0-4, 5-9. 10-14 and 15-17 age) mean incidences per 100,000 per year were calculated. Results: There were 1,773 patients diagnosed during 2013-2015 (588 cases in 2013, 592 cases in 2014, 593 cases in 2015). Of these, 862 (48.6 %) were girls and 911 (51.4%)were boys. The mean age at diagnosis was 9.2 +/- 4.2 years and it was not significantly different between girls (9.0 +/- 4.1 years) and boys (9.4 +/- 4.4 years) (p = 0.052). The crude mean incidence was 8.99/100.000 confidence interval (CI) (95% CI: 8.58-9.42). Although mean incidence was similar between boys [8.98/100.000 (CI: 8.40 to 9.58)] and girls [9.01/100.000 (CI: 8.42 to 9.63)], there was male predominance in all groups except for 5-9 year age group. The standardized mean incidence was 9.02/100.000 according to the World Health Organization standard population. The mean incidence for the 0-4, 5-9, 10-14 and 15-17 age groups was 6.13, 11.68, 11.7 and 5.04/1 00.000 respectively. The incidence of T1DM was similar over the course of three years (p = 0.95). A significant increase in the proportion of cases diagnosed was observed in the autumn-winter seasons. Conclusion: The northwest region of Turkey experienced an intermediate incidence of T1DM over the period of the study.

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

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.

BACKGROUND AND OBJECTIVE: Pulmonary problems are vitally important in newborns. Increased intense and mucoid secretions may lead to atelectasis, pulmonary infections, respiratory distress, prolonged mechanical ventilation or even death. The aim of this study was to evaluate the safety of recombinant human deoxyribonuclease (rhDNase) in the management of persistent atelectasis in term and preterm newborns, unresponsive to the conventional treatment. DESIGN AND SETTING: Prospective study of patients admitted to a general community setting of a neonatal intensive care unit between December 2007 and December 2009. PATIENTS AND METHODS: The study included 22 patients (12 premature and 10 term) who were admitted to the neonatal intensive care unit because of respiratory distress and developed atelectasis, and were unresponsive to conventional treatment. Nebulized rhDNase was administered to all patients at a dose of 1 mg/m2 twice daily for 3 days. In patients who did not respond to 3 days of treatment, endotracheal rhDNase was administered at a dose of 1 mg/m2. We assessed the clinical (respiratory rate and oxygen requirement) and radiologic responses (chest radiographic score), recurrence of atelectasis, the need for a repetitive treatment, and mortality rate. RESULTS: A clinical and radiologic improvement of atelectasis was observed in 18 of 22 patients following 3 days of nebulized rhDNase treatment. Atelectasis relapsed in 4 patients. Following the administration of combined endotracheal and nebulized rhDNase treatment, an improvement of atelectasis was noted in all four recurrent cases. No adverse events were observed in patients because of the rhDNase treatment. CONCLUSIONS: rhDNase treatment is a safe option and may be used as an effective method for the management of persistent atelectasis in newborns, which is resistant to other conventional treatment methods.