Search

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.

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 (

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.

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

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.

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.

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).

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

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