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Aim: Partial remission (PR) is a significant period in the early course of type 1 diabetes (T1D) with implications for diabetes management. We aimed to investigate whether long-term hemoglobin A1c (HbA1c) outcomes in T1D differed as a result of experiencing PR. We also analyzed the demographic and clinical factors that may influence long-term glycemic control. Material and methods: We retrospectively tracked the HbA1c values of 131 children and adolescents with T1D over a 5-year period. Patients were stratified into low (

Introduction: Partial trisomy 6p is a rare chromosomal anomaly, characterized by low birth weight, developmental delay, craniofacial abnormalities, feeding difficulties, congenital heart defects, and renal abnormalities. Some of the partial trisomy 6p cases reported in the literature included partial monosomy of another chromosome. This is often due to the fact that one of the parents is a balanced translocation carrier, thereby making it difficult to determine the genotype-phenotype relationship. Pure partial trisomy 6p cases are even rarer and may occur as a result of a marker chromosome, tandem or inverted duplication, and interchromosomal insertion. Case Presentation: In this study, we evaluated the physical characteristics and genetic data of a 2-year-old girl with developmental delay and facial dysmorphic features. Dysmorphology assessment revealed the presence of a prominent forehead, short and narrow palpebral fissures, blepharoptosis, convex nasal ridge, hemangioma on the left eyelid, high-arched palate, retromicrognathia, and low-set ears. The patient’s G-banded karyotype was 46,XX,der(2)t(2;6)(q37.3;p22.1). Upon SNP-array analysis, aimed to determine the origin of the extra chromosomal material detected in chromosome 2 of the patient, there was a de novo 27.5-Mb duplication at 6p, arr[GRCh37] 6p25.3p22.1(204,909_27,835,272)×3, interpreted to be pathogenic. Conclusion: We present this case report to clarify the clinical findings of a rare chromosomal anomaly, discuss the genes that may be related to the phenotype and contribute to the literature in terms of knowledge regarding genotype-phenotype correlation.

Intrathyroidal ectopic thymus (IET), a benign lesion due to aberrant thymic migration during embryogenesis, is often discovered incidentally. We aimed to present the ultrasound (US) features, diagnostic methods, and follow-up of IET in children and adolescents.We searched our database of patients with a nodular thyroid lesion detected by US, between January 2007 and December 2019. In 30/255 (11.7%), IET was diagnosed.The study included 30 patients (20 males/10 females), mean age 5 years (0.1-12.2, median 5.6) with 34 lesions diagnosed by US as `incidentalomas.` None of the patients had palpable nodules. On US, IET appeared as a hypoechoic lesion, with multiple punctuate internal echoes. 29/34 of lesions had well-defined margins. The most common location of IET was in the middle part (27/34) of the left lobe (19/34). The mean longest diameter at diagnosis was 6.4 mm (2.5-21, median 4.5). Sonographic follow-up was available in 25 patients with 27 lesions. The mean time of observation was 2.7 years (0.3-7.5, median 2.1). While 13/27 cases showed decreased size or regression during follow-up, the other 13 increased in size, and there was no change in size in one. Pubertal progression was associated with both increment and decrease in size of IET. Fine needle aspiration (FNA) was performed in 5 patients and surgery in one.IET should be considered in the differential diagnosis of pediatric thyroid nodules as a cause of FNA and/or surgery. Regular US monitoring can be used safely in the follow-up of this lesion. We present one of the largest series in the literature with long-term follow-up and description of patients` pubertal status. IET prevalence was 11.7% among children and adolescents with a nodular thyroid lesion, higher than that stated in the literature.

Objectives Most patients with type 1 diabetes (T1D) experience a transient phase of partial remission (PR). This study aimed to identify the demographic and clinical factors associated with PR. Methods This was a longitudinal retrospective cohort study of 133 children and adolescents with T1D. PR was defined by the gold standard insulin dose-adjusted hemoglobin A1c (HbA1c) (IDAA1c) of ≤9. Results Remission was observed in 77 (57.9%) patients. At diagnosis, remitters had significantly higher pH (7.3 ± 0.12 vs. 7.23 ± 0.15, p=0.003), higher C-peptide levels (0.45 ± 0.31 ng/mL vs. 0.3 ± 0.22, p=0.003), and they were significantly older (9.3 ± 3.6 years vs. 7.3 ± 4.2, p=0.008) compared with non-remitters. PR developed more frequently in patients without diabetic ketoacidosis (DKA) (p=0.026) and with disease onset after age 5 (p=0.001). Patients using multiple daily insulin regimen were more likely to experience PR than those treated with a twice daily regimen (63.9 vs. 32%, p=0.004). Only age at onset was an independent predictor of PR (OR: 1.12, 95% CI: 1-1.25; p=0.044). Remitters had lower HbA1c levels and daily insulin requirement from diagnosis until one year after diagnosis (p Conclusions Addressing factors associated with the occurrence of PR could provide a better comprehension of metabolic control in T1D. The lack of DKA and higher C-peptide levels may influence PR, but the main factor associated with PR presence was older age at onset. PR may recur in a small proportion of patients.

Objective The study aimed to analyze the risk factors and clinical features of metabolic bone disease of prematurity (MBDP) in premature infants compared with infants of similar gestational age and birth weight without MBDP. Study Design This retrospective case–control study was performed by comparing 81 cases of MBDP with 63 controls to identify potential risk factors. Premature infants with a gestational age ≤33 weeks and birth weight Results Bone fractures and invasive ventilator dependence were the most common clinical features of MBDP. Duration of invasive ventilation and total mechanical ventilation days, necrotizing enterocolitis, corticosteroid use, anticonvulsive drug use, duration of dexamethasone and caffeine use, total parenteral nutrition, and length of hospitalization were significantly higher in neonates with MBDP (p Conclusion Our results show that anticonvulsive drug use is a significant risk factor for the development of MBDP. If long-term use is not required, anticonvulsive drugs should be stopped as soon as possible. Further studies involving patients with MBDP are required to determine the risk factors and clinical features. Key Points

Objective: Turkish Directorate of Public Health introduced the first pilot screening program for congenital adrenal hyperplasia (CAH) in four Turkish cities in 2017, and in 2018 extended the program, with a slight change in screening strategy, to fourteen cities. To evaluate the performance of the extended study and update previously reported outcomes. Methods: Retrospective, descriptive study. Neonates of >= 32 gestational weeks and >= 1500 gr birth weight from fourteen cities, born between May-December 2018, were included. Screening protocol included one sample, two-tier testing as applied in the previous pilot study. In the first step, 17 alpha-hydroxyprogesterone (17-OHP) was measured by fluoroimmunoassay in dried blood spots (DBS) obtained at 3-5 days of life. Cases with positive initial screening underwent second tier testing by steroid profiling in DBS using liquid chromatography-tandem mass spectrometry to measure 17-OHP, 21-deoxycortisol (21-S), cortisol (F), 11-deoxycortisol and androstenedione. The babies with a steroid ratio (21-S+ 17-OHP)/F of >= 0.7 (increased from >= 0.5 in the earlier pilot study) were referred to pediatric endocrinology clinics for diagnostic assessment. Results: In the evaluated period, 241,083 newborns were screened. 12,321 (5.11 %) required second-tier testing and 880 (0.36 %) were referred for clinical assessment, twenty of whom were diagnosed with CAH (10 females, 10 males). Sixteen were diagnosed as classical 21-hydroxylase deficiency (21-OHD) CAH (12 with salt-wasting and four with simple virilising CAH), and four cases were identified with 11 beta-OHD CAH. No case of salt-wasting CAH was missed by neonatal screening (sensitivity was 100 %). The incidence of classical 21-OHD and 11 beta-OHD in the screened population was 1:15,067 and 1:60,270, respectively. Conclusion: Turkish neonatal CAH screening effectively led to earlier diagnosis of 21-OHD and 11 beta-OHD, using steroid profiling as a second-tier test. This will result in improved care of these patients in the future.

The literature does not commonly describe cardiac rhythm disturbances, including bradycardia, in patients who are receiving corticosteroids, and the exact mechanism of such disturbances remains unknown. Herein, we present a case of sinus bradycardia associated with stress-dose corticosteroid therapy. A nine-year-old boy with a history of panhypopituitarism was admitted with gastroenteritis and pneumonia and developed septic shock on the day of admission. Management using intravenous fluids, stress doses of hydrocortisone, and antibiotics resulted in full recovery. However, within 24 hours following treatment, sinus bradycardia was documented, with a heart rate of 45 beats per minute (BPM). The bradycardia resolved after the dose of hydrocortisone was decreased gradually. Corticosteroid-induced sinus bradycardia is an adverse effect that usually resolves after corticosteroid treatment is discontinued. During stress-dose corticosteroid therapy, hemodynamic monitoring should be considered. To our knowledge, this is the first report of sinus bradycardia following the use of hydrocortisone in children who have adrenal insufficiency.

Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is an early onset systemic autoimmune genetic disorder caused by mutation of the forkhead box protein 3 (FOXP3) gene. Enteropathy, endocrinopathy and skin manifestations are considered the classic triad of IPEX syndrome. However, the patients with IPEX syndrome display a variety of phenotypes including life threatening multi-organ autoimmunity. Here, we present the case of two siblings with IPEX syndrome with the same hemizygous mutation, but with different types of symptomology at onset of the disease.

Serum 17α- hydroxyprogesterone (17OHP) and bilateral adrenal sizes are pivotal for clinical practice in both diagnosis and treatment of congenital adrenal disorders during the first month of life. Our aims were to determine the reference ranges for serum 17OHP and bilateral adrenal gland sizes according to sex and age groups in healthy term newborns.A total of 156 healthy newborns, aged 4-7 days (Group 1) or 26-30 days old (Group 2) were included in the study. Serum 17OHP concentration was measured in the morning by radioimmunoassay. The right and left adrenal glands' width, length, and depth were measured with ultrasonography by the same radiologist and the volumes were calculated.The clinical characteristics and serum 17OHP concentrations were similar in male and female newborns. Percentiles for serum 17OHP concentration and the volume of adrenal glands according to age groups and sexes were obtained. Mean 17OHP concentration was 4.67 ± 2.6 ng/ml and 4.49 ± 2.7 ng/ml at the first and fourth week of life, respectively (p .05). There was a significant decrease in adrenal sizes during the fourth week of life. There was no significant correlation between serum 17OHP concentration and adrenal gland sizes.We have determined reference intervals for serum 17OHP concentration and bilateral adrenal gland sizes for healthy newborns. Although serum concentrations of 17OHP did not change significantly through the first month of life, our reference intervals for serum 17OHP concentration and adrenal sizes may improve clinical approach toward newborns who are suspected of adrenal disorder. We conclude that our reference intervals can guide for congenital adrenal screening regarding serum 17OHP concentration besides diagnosis of adrenal hypoplasia or hyperplasia with ultrasonographic adrenal gland sizes.

Thyroid nodules are less frequent in children than in adults. A higher rate of malignancy is highlighted in this group. We aimed to analyze the clinical, laboratory, and ultrasound (US) findings of children and adolescents with benign and malignant thyroid nodules. This was a retrospective review of children and adolescents evaluated at a tertiary pediatric institution between 2007 and 2019. Patients with autonomously functioning nodules, autoimmune thyroid diseases, and a history of oncohematological disorders were excluded. A total of 102 patients with 131 nodules were identified. The study population included 57 females (55.9%); the average age was 10.6 ±4 years. Thirty-five nodules (26.7%) ranging 4.5-36 mm had a fine-needle aspiration (FNA) done: 45.7% (n = 16) were benign, 11.4% (n = 4) were classified as atypia, and 8.5% (n = 3) were consistent with papillary carcinoma. Fourteen patients (13.7%) underwent surgery. Five (4.9%) were finally diagnosed with papillary thyroid cancer. Of the 6 patients with benign FNAs, all except one, which was initially reported as atypia by an earlier FNA but was later diagnosed with papillary carcinoma, had a colloid nodular goiter. Of the 3 patients with atypia FNAs, one was found to be papillary carcinoma. One hundred twenty-five benign nodules (21 based on cytology and/or histology, 104 on clinical and imaging follow-up) were diagnosed. Nodule size, microcalcifications, solid parenchyma, and pathologic lymph node alterations were associated with malignancy, but nodule growth was not.Conclusion: Diagnostic approach and management of children with thyroid nodules should be based on a stepwise evaluation including clinical, laboratory, and US findings. Of the 102 patients identified, 4.9% had thyroid carcinoma below the range described in previous literature. What is Known: • Thyroid nodules are less frequent in children than in adults but more frequently malignant. Research on factors associated with malignancy have mostly been conducted in adults; further studies in pediatric thyroid nodules are warranted. What is New: • Microcalcifications, pathologic lymph node alterations, solid parenchyma, and larger nodule size are associated with malignant nodules, but nodule growth is not always suggestive of thyroid malignancy. The incidence of thyroid malignancy in this population was below the reported worldwide incidence in children with thyroid nodules.

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.

Herein, we aimed to present a child with extremely severe hypertriglyceridemia (ESHTG) secondary to diabetic ketoacidosis concomitant with type IX glycogen storage disease (GSD). Extremely severe hypertriglyceridemia (10 700 mg/dL) was detected through the apparent lipemic appearance of the sampled blood in a 17-year-old male patient with severe diabetic ketoacidosis. In spite of insulin infusion, the patient's clinical condition deteriorated to acute pancreatitis. Single sessions of therapeutic plasma exchange (TPE) along with insulin treatment have successfully intercepted the progression of the state of acute pancreatitis. The patient was also diagnosed with type IX GSD on the basis of the genetic analyses performed for the potential underlying metabolic diseases. In conclusion, underlying metabolic diseases, such as glycogen storage disease, should be investigated in patients with diabetic ketoacidosis accompanied by severe hypertriglyceridemia. If ESHTG does not relieve despite insulin infusion, and/or acute pancreatitis occurs as a complication, TPE should be kept in mind.

Background Amitriptyline ingestion is an important cause of poisoning morbidity and mortality in Turkey and other countries. In contrast to adults, data concerning amitriptyline intoxication in children are limited. The purpose of this study was to investigate amitriptyline intoxication findings in the pediatric population, based on age groups and reported dosages. Methods The medical records of 192 patients admitted to the Karadeniz Technical University Medical Faculty Farabi Hospital Pediatric Emergency Department, Turkey, due to amitriptyline intoxication in 1997-2017 were examined retrospectively. Patients were divided into 6 groups based on amitriptyline doses and 4 groups based on age. Complete blood count, blood glucose, serum electrolytes, renal and liver function tests, coagulation tests (prothrombin time and partial thromboplastin time), and blood gas analysis were studied in all patients. Electrocardiography was performed on all children, and chest radiography and electroencephalography on those with respiratory or central nervous system symptoms. Results Amitriptyline intoxication was most frequently observed between the ages of 1 and 4 years. The most common signs and symptoms observed at time of hospital admission were lethargy and drowsiness (45.3%), sinus tachycardia (19.2%), and nausea and vomiting (13%). The most common laboratory finding was hyperglycemia (17.7). Six patients were intubated because of respiratory failure, and mechanical ventilation was initiated in these cases. One patient with amitriptyline overdose had persistent supraventricular tachycardia. Four children died due to amitriptyline intoxication. Conclusions Tricyclic antidepressant intoxication is a leading cause of mortality and morbidity in children. It is therefore particularly important to identify the clinical and laboratory findings that develop with high-dose consumption.

BACKGROUND Acute liver failure (ALF) is a rare multisystemic disease occurring in individuals with no history of liver disease, characterized by coagulopathy and / or hepatic encephalopathy secondary to acute liver injury. It is mostly caused by viral infections, drug intoxication, and metabolic diseases (MD), and can also have an indeterminate etiology. In this study, we aimed to evaluate the demographic and clinical characteristics and clinical outcomes of the patients that presented to our clinic with MD-associated ALF. METHODS This retrospective study reviewed age, gender, parental consanguinity, family history, presence of encephalopathy, laboratory parameters, and clinical outcomes of the patients that presented to our clinic between January 2009 and January 2019. Patients with MD-associated ALF were compared with patients in whom ALF was associated with other etiologies. RESULTS The study included 39 patients (53.8% boys; mean age + SD 6.13 ± 1.43 years). The total and direct bilirubin, international normalized ratio, and ammoniac levels were significantly higher in patients with MD than in the others (P

Background Virginal breast hypertrophy is a rapid and massive enlargement of one or both breasts. There are several proposed causes and treatment options for virginal breast hypertrophy, but the investigations to support these theories are lacking. Cases We report two premenarchal girls with virginal breast hypertrophy who presented as different clinical cases. After their surgical interventions, their clinical courses were followed for more than 2 years with tamoxifen as an adjuvant therapy. Summary and Conclusion Breast size and shape disorders can be a disturbing cosmetic problem for adolescents who worry about their body image. A combination treatment of breast reduction surgery and tamoxifen is reasonable and can eliminate the need for repeated surgeries for girls with virginal breast hypertrophy.

Summary Background & aims Vitiligo is a pigmentary disorder and autoimmune pathogenesis seems most likely. Decreased vitamin D levels have been related to several autoimmune diseases. Little is known about the association of vitiligo and vitamin D. We aimed to evaluate serum 25-hydroxyvitamin D [25(OH)D] levels in children with vitiligo and to determine the efficacy of oral vitamin D therapy on the repigmentation of vitamin D deficient patients. Methods Thirty patients aged 6–17 years with vitiligo and 30 sex- and age-matched apparently healthy controls were included in this prospective study. Size of the vitiligo representative area was estimated using the point counting method and blood samples were obtained at the beginning and month six. By the end of the study, all patients treated with topical tacrolimus for six months and the patients who were vitamin D deficient (n = 14) had been on combination treatment of oral vitamin D and topical tacrolimus. A dose of 1500 IU/day vitamin D was given if the serum 25(OH)D levels Results Serum 25(OH)D levels of patients and controls were not significantly different (p > 0.05). Lesion size decreased from 66.1 ± 58.3 cm 2 to 48.0 ± 52.6 cm 2 after six months of treatment in patients who received combination treatment (p 2 to 53.5 ± 64.9 cm 2 (p Conclusions Although we did not determine decreased serum 25(OH)D levels in children with vitiligo, we showed that combination treatment with oral vitamin D and topical tacrolimus is more effective in reaching repigmentation than topical tacrolimus alone. Oral vitamin D supplementation might be useful for children with vitiligo who are also deficient in vitamin D.

Objectives: Little is known about the association of vitamin D and alopecia areata (AA). Our objectives were to search a relation between 25-hydroxyvitamin D [25(OH)D] levels and the development of AA and the efficacy of oral vitamin D treatment in children with AA and vitamin D deficiency. Methods: Thirty newly diagnosed AA patients and 30 sex- and age-matched controls were included in the study. Levels of 25(OH)D, parathormone, calcium, inorganic phosphate, alkaline phosphatase were measured at baseline and sixth month. Both patients and controls who diagnosed vitamin D deficiency were treated with oral vitamin D for six months. Results: Serum 25(OH) D levels of the patients and controls were 25.3 ± 19.4 ng/ml and 21.3 ± 12.5 ng/ml, respectively (p>0.05). The frequency of vitamin D deficiency was similar in patients and controls. Serum levels of 25(OH)D and calcium were increased significantly after six months of the treatment in both patients and controls with vitamin D deficiency (p

WOS: 000327687300008 PubMed: 23937963 Purpose: Antiepileptic drugs may affect the endocrine system. We investigated the effects of valproic acid and topiramate on the levels of insulin, c-peptide and adipocytokines in pre-pubertal patients with idiopathic partial and generalized epilepsy. Methods: Forty-one children with epilepsy were included. The patients were divided into two groups (valproic acid; n = 21, topiramate; n = 20). The weight, height, body mass index and homeostasis model assessment of insulin resistance (HOMA-IR) were recorded and insulin, c-peptide, leptin, neuropeptide Y, adiponectin, visfatin and resistin levels were determined at 0, 6 and 12 months of therapy. Results: In the valproate group, weight and height increased significantly. Seven of 21 patients were overweight at the end of one year. Leptin was higher in the overweight subgroup. Although insulin and HOMA-IR increased (p < 0.05), none of the patients showed hyperinsulinism or IR. Resistin had decreased at the 6th and 12th months (p < 0.05). In the topiramate group, some statistically nonsignificant changes were demonstrated. Conclusion: The mechanisms behind valproate and topiramate-related weight control are still unclear, especially in children. Valproate and topiramate affect the weight, BMI, and insulin, leptin and adipocytokine levels in prepubertal children. We suggest that further studies including more patients with a long follow-up period are necessary to draw a firm conclusion regarding an association between the treatment with these drugs and the levels of leptin, insulin and adipocytokines. (C) 2013 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved. Karadeniz Technical University Research Foundation [2006-114031] This study was supported by the Karadeniz Technical University Research Foundation (Project number: 2006-114031).

Objective: Type 1 diabetes mellitus (T1DM) is characterized by inability to produce insulin due to the autoimmune destruction of the beta cells in the pancreas. In this study we aimed to evaluate anthropometric and metabolic parameters of patients diagnosed with T1DM. Material and Methods: Clinical and laboratory data of patients with T1DM were analyzed from medical records, retrospectively. Results: A total of 89 patients (45 male, 44 female) were evaluated in this study. The mean age of the patients was 12 ± 3.7 decimal years (DY) and age at diagnosis was 7.5 ± 3.9 DY (0.3-16.2 DY). Gender ratio was equal in patients and the mean follow-up time was 4.5 ± 3.4 years (0.1 – 16.2 years). While the mean height in standard deviation score (HSDS) of the patients at diagnosis was -0.07 ± 1, mean final HSDS was found to be -0.37 ± 1 (p = 0.002). Remission was achieved in 46 (51.6%) patients. 12 patients (13.5%) were classified in ‘good’; 32 patients (35.9%) in ‘moderate’ and 45 (50.6%) patients in ‘bad’ metabolic control groups, but four patients could not be classified in a metabolic control group. There was a slight correlation between body mass indexes and the mean insulin doses of the patients (r=0.20, P 0.05) or daily insulin dose requirement (p>0.05) and delta-HSDS. While there was no significant difference in terms of age, age at diagnosis, pubertal stage and insulin requirement between the patients with goodmoderate metabolic control and bad metabolic control, final HSDS was significantly lower in patients with bad metabolic control (-0.2 ± 0.9 vs. -0.8 ± 1.1; p = 0.04).

Congenital adrenal hyperplasia (CAH) is a group of autosomal recessively inherited disorders characterized by impaired production of adrenal steroids. Approximately 95% of all CAH are caused by mutations of the CYP21A2 that encodes 21-hydroxylase. In this study, mutation analyses of CYP21A2 were performed in 48 CAH patients from 45 Turkish families with the clinical diagnosis of 21-hydroxylase deficiency (21OHD). While in 39 (86.7%) of 21OHD patients, disease causing CYP21A2 mutations were identified in both alleles, in two 21OHD patients CYP21A2 mutations were identified only in one allele. In four patients, mutation was not detected at all. In total, seventeen known and one novel, disease causing CYP21A2 mutations were observed. Among identified mutations, previously described c.293-13C/A>G, large rearrangements and p.Q319X mutations were the most common mutations accounting for 33.3%, 14.4% and 12.2% of all evaluated chromosomes, respectively. In six families (13.3%) a novel founder mutation, c.2T>C (p.M1?), inactivating the translation initiation codon was found. This mutation is not present in pseudogene CYP21A1P and causes the classical form of the disease in six patients. In addition, depending on the nature of the rearrangements CYP21A1P/CYP21A2 chimeras were further classified as CH(c/d), and CH-1(c) was shown to be the most prominent chimera in our study group. In conclusion, with this study we identified a novel founder CYP21A2 mutation and suggest a further classification for CYP21A1P/CYP21A2 chimeras depending on the combination of junction site position and whether it is occurred as a result of deletion or conversion. Absence of disease causing mutation of CYP21A2 in ten of screened ninety chromosomes suggests the contribution of regulatory elements in occurrences of CAH due to the 21OHD.

WOS: 000378819700011, PubMed ID: 26964727, Aim: The causes of gonadotropin-independent precocious puberty are diverse, and often have overlapping clinical and biochemical features. With the exception of congenital adrenal hyperplasia (CAH), disorders that cause gonadotropin-independent precocious puberty (GIPP) are uncommon. The literature is devoid of any large-scale studies on the etiologic distribution of GIPP. The aim of this study was to determine the frequency of each etiology in a cohort of patients with GIPP (excluding those with CAH), and to evaluate the clinical and laboratory features of these patients. Materials and Methods: This multicenter, nationwide web-based study collected data on patients who presented with non-CAH GIPP in Turkey. Results: Data were collected for 129 patients (102 girls and 27 boys) from 29 centers. Based on the data collected, the estimated prevalence of non-CAH GIPP in the studied population was 14 in 1 000 000 children. Functional ovarian cyst was the most common etiology, accounting for 37% of all cases, followed by McCune-Albright syndrome (MAS) (26%). Among the patients with MAS, 11.7% had fibrous dysplasia, 32.3% had caf-au-lait spots, and 52.9% had both. Human chorionic gonadotrophin-secreting tumors included choriocarcinoma of the liver, hepatoblastoma, and germ cell tumors of the sellar-suprasellar region and mediastinum. Patients with adrenocortical tumors presented at an earlier age than those with other etiologies. Ovarian tumors included mature cystic teratoma, dysgerminoma, juvenile granulosa tumor, and steroid cell tumor. Despite overlapping features, it was possible to identify some unique clinical and laboratory features associated with each etiology. Conclusion: This largest cohort of patients with non-CAH GIPP to date yielded an estimation of the frequency of non-CAH GIPP in the general pediatric population and showed that girls were affected at a rate 4-fold greater than that of boys owing to functional ovarian cysts and MAS, which were the two most common etiologies. The data collected also provided some unique characteristics associated with each etiology., Turkish Pediatric Endocrinology and Diabetes Society [052014], This work was supported by the Turkish Pediatric Endocrinology and Diabetes Society (No: 052014).

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

To evaluate the effects of three specific conditions related to critical care on adrenal function with special regard to the levels of serum cortisol, corticotropin (ACTH), dehydroepiandrosterone sulfate, and cytokines. The study enrolled a total of 74 children who were divided into three groups. Group 1 comprised 23 patients who had acute critical illness (ACI) associated with severe sepsis/septic shock. Group 2 comprised 27 patients who had ACI without sepsis. Group 3 comprised 24 patients who underwent major surgery. Blood samples were obtained for baseline measurements and a low-dose ACTH stimulation test (LD-ST) was performed. Serial ACTH and cortisol levels were measured with an interval of 3 days and LD-ST was repeated on day 14 for all groups. Baseline cortisol, ACTH, and dehydroepiandrosterone sulfate levels were significantly higher in patients with adrenal insufficiency (AI) than those of without AI. AI was detected in four patients in group 1, seven in group 2, and ten in group 3. Consecutive cortisol and ACTH levels did not differ significantly among the groups. On day 14, the recovery rate in patients with AI was 82 % in the whole group. Patient’s age and interleukin-10 level were found to be independent predictors of AI. A considerable proportion of patients in these three groups had AI with a high spontaneous recovery rate in 2 weeks. The presence of sepsis was not associated with an increased risk of AI. Our serial cortisol and ACTH values in these different groups could be used as reference values for further studies.

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).

A 6-month-old boy was referred to our clinic with a 4-month history of progressive bilateral breast enlargement (figure 1). There was no history of maternal medication, infection, trauma, nipple discharge, contact with oestrogen products or familial breast disorder. He had bilateral painless breast enlargement without nipple discharge and signs of inflammation. His testes were both palpable in the scrotum, measuring 2 mL in volume. Figure 1 General appearance of the patient. There were no signs of other endocrine abnormalities. 1. From the patient's clinical presentation, what is the most likely diagnosis? 1. Prepubertal gynaecomastia 2. 46,XX disorder of sex development 3. 17α-hydroxylase deficiency 4. 46,XY disorder of sex development 5. Breast abscess 2. Other than breast ultrasound, which investigation(s) would you perform (multiple answers are possible)? 1. Whole blood count and erythrocyte sedimentation rate 2. Prolactin, total testosterone and oestradiol 3. Free thyroxine, thyroid stimulating hormone (TSH) and cortisol 4. Human chorionic gonadotropic hormone 5. Karyotype …

Objective: Generalized joint hypermobility (GJH) and fibromyalgia syndrome (FMS) are two clinical conditions that may cause common musculoskeletal pain during childhood. Our study aimed to evaluate the frequency of juvenile FMS and GJH in children aged 11-18 years in the province Trabzon as well as to evaluate the correlation between these two conditions. Material and Methods: This cross-sectional study was conducted in 437 students aged 11-18 years who received education in Trabzon. Questionnaire forms were filled, and each student was examined. The children reported to have any disease were excluded from the study. GJH was diagnosed according to criteria of Beighton diagnosis. The presence of FMS was determined according to the 1990 American College of Rheumatology classification criteria. A total of 437 students [209 girls (52.2%) and 228 (47.8%) boys] participated in the study. The mean age was 14.3±1.7 years for girls and 14.7±1.79 years for boys. Results: The frequency of GJH was found to be 9.1% and that of FMS was found to be 5.9% for children included in the study. Although significant difference was observed among the female and male participants in terms of the frequency of GJH (p=0.023), no such difference was detected in of the frequency of FMS (p=0.065). A statistically significant and highly negative correlation was found between age and Beighton score (r=-0.187, p

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.

The purpose of this study was to determine the relationship between serum leptin levels and body composition and to evaluate the variables related to disease in children and adolescents with type 1 diabetes. We studied 49 diabetic patients aged 6-16 years (age: 11.2+/-2.9 years, M/F: 26/23), and 37 healthy controls. Body composition was determined by dual-energy X-ray absorptiometry. Serum leptin, glycated hemoglobin (HbA1c), free thyroxin, thyrotropin, testosterone and estradiol levels were measured in patients and controls. We did not observe significant difference in serum leptin levels between patients and controls. Girls had significantly higher serum leptin levels than boys in both patient and control groups. Serum leptin levels did not correlate significantly with HbA1c, disease duration or daily insulin dose but, correlated positively with body mass index (BMI) and fat mass (FM) in patients as in controls. Body composition in diabetic girls and boys was similar with respective controls. When analyzed by pubertal stage, BMI, lean body mass (LBM), FM, and total bone mineral density (BMD) were significantly higher in pubertal girls with type 1 diabetes compared to prepubertal ones. In pubertal boys with type 1 diabetes, LBM and FM were significantly higher than prepubertal ones. The results of the present study showed that neither serum leptin levels nor body composition was significantly altered in children and adolescents with type 1 diabetes managed with intensive insulin therapy.

Recurrent acute pancreatic attacks is a rare clinical condition (2-5% of all acute pancreatis) in children and is mainly idiopathic in most cases. Sometimes it may be associated with congenital anomalies, metabolic diseases or hereditary conditions. Isovaleric acidemia (IVA) is a rare autosomal recessive amino acid metabolism disorder associated with isovaleryl coenzyme A dehydrogenase deficiency presenting the clinical findings such metabolic acidosis with increased anion gap, hyperammonemia, ketonemia, hypoglycemia, “the odor of sweaty feet,” abdominal pain, vomiting, feeding intolerance, shock and coma. Recurrent acute pancreatitis associated with IVA have been rarely reported. Herein; we report a child who admitted with recurrent acute pancreatic attacks and had the final diagnosis of IVA. Mutation analysis revealed a novel homozygous mutation of (p.E117K [c.349G>A]) in the IVA gene. Organic acidemias must kept in mind in the differential diagnosis of recurrent acute pancreatic attacks in children.

Vulvovaginitis caused by Shigella species (Shigella spp.) has rarely been reported. This paper describes two cases of prepubertal vulvovaginitis, presenting with a bloody and purulent vaginal discharge, separately caused by ampicillin-resistant Shigella flexneri and trimethoprim-sulfomethoxazoleresistant Shigella sonnei. Our conclusions are that Shigella spp. is the potential cause of vulvovaginitis in prepubertal girls in developing countries where these pathogens are endemic, and identification of the bacteria and making antibiotic susceptibility testing in these cases should not be overlooked. Turkish Başlık: Shigella Flexneri ve Shigella Sonnei'nin Neden Olduğu İki Vulvovajinit Olgusu: Olgu Sunumu Anahtar Kelimeler: Shigella flexneri, Shigella sonnei, vulvovajinit, prebubertal kız çocukları Shigella species (Shigella spp.)'in neden olduğu vulvovajinitler nadir olarak bildirilmiştir. Burada kanlı irinli vaginal akıntı şikayeti ile başvuran ve birinde ampisilin dirençli Shigella flexneri ve diğerinde trimetoprim-sulfametoksazole dirençli Shigella sonnei tespit edilen prebubertal vulvovajinitli iki olgu sunulmaktadır. Bulgularımız kuvvetle düşündürmektedir ki özellikle bu patojenlerin endemik olduğu gelişmekte olan ülkelerde vulvovajiniti olan prebubertal kız çocuklarında Shigella spp.'nin tanımlanması ve antibiyotik duyarlılık testi göz ardı edilmemelidir.

OBJECTIVES The aim of the study was to assess seasonal prevalence of vitamin D deficiency according to sex and to determine the relations between serum levels of 25-hydroxyvitamin D [25(OH)D] and parathyroid hormone (PTH) and sociodemographic characteristics in otherwise healthy schoolchildren during spring and autumn. METHODS In a cross-sectional study, 746 healthy students aged between 11 and 18 years were recruited during spring (n = 375) and autumn (n = 371). Sociodemographic data were collected by a questionnaire. Serum 25(OH)D, PTH, calcium, phosphate, and alkaline phosphatase were measured. Serum 25(OH)D levels were categorized as

Tricyclic antidepressant (TCA) overdose is one of the common causes of drug poisoning and it has cardiovascular, respiratory and neurological side effects. An 18-month male infant was admitted to our pediatric emergency service due to poisoning with amitriptyline. The infant was unconscious. Tachycardia, irregular and shallow breathing, and tonic-clonic seizures were observed on physical examination. An electrocardiogram displayed a narrow complex tachycardia that was consistent with re-entrant supraventricular tachycardia (SVT). Although antiarrhythmic and anticonvulsive agents were administrated, SVT and seizures persisted. Charcoal hemoperfusion (HP) was performed for 4 hours. The infant’s clinical condition has improved after the charcoal HP, seizures and SVT were not observed. It is concluded that charcoal HP can be used efficiently in patients with severe amitriptyline intoxication.

The effects of budesonide, nedocromil sodium and salmeterol on bronchial hyperresponsiveness were determined over a period of 3 weeks.Forty-three asymptomatic children (22 male, 21 female, aged 7-17 years) with mild-to-moderate asthma were evaluated. The study was placebo-controlled and double-blind. At the beginning the forced expiratory volume in 1 second (FEV1) was measured and a methacholine challenge was performed to determine PC20 (provocative concentration of inhaled methacholine required to reduce FEV1 by 20%). The patients in group I (n = 12), group II (n = 10), group III (n = 11), and group IV (n = 10) inhaled 200 micrograms of budesonide, 2 mg of nedocromil sodium, 25 micrograms of salmeterol and a placebo, respectively, twice a day over the period of 3 weeks. Then the methacholine PC20 values of all patients were measured again and the results were compared statistically with their previous values.The statistical data revealed that the methacholine doses in PC20 before and after treatment were different in group I (P0.01). However, these differences were not statistically significant in the other groups (P0.05).The short term usage of budesonide decreases bronchial hyperresponsiveness, but nedocromil sodium and salmeterol in the given dises do not affect bronchial hyperresponsiveness.

WOS: 000339649100004, PubMed ID: 23419424, Objective: Epidemiologic and clinical features of type 1 diabetes mellitus (T1DM) may show substantial differences among countries. The primary goal in the management of T1DM is to prevent micro- and macrovascular complications by achieving good glycemic control. The present study aimed to assess metabolic control, presence of concomitant autoimmune diseases, and of acute and long-term complications in patients diagnosed with T1DM during childhood and adolescence. The study also aimed to be a first step in the development of a national registry system for T1DM, in Turkey. Methods: Based on hospital records, this cross-sectional, multicenter study included 1 032 patients with T1DM from 12 different centers in Turkey, in whom the diagnosis was established during childhood. Epidemiological and clinical characteristics of the patients were recorded. Metabolic control, diabetes care, complications, and concomitant autoimmune diseases were evaluated. Results: Mean age, diabetes duration, and hemoglobin A1c level were 12.5 +/- 4.1 years, 4.7 +/- 3.2 years, and 8.5 +/- 1.6%, respectively. Acute complications noted in the past year included ketoacidosis in 5.2% of the patients and severe hypoglycemia in 4.9%. Chronic lymphocytic thyroiditis was noted in 12%, Graves' disease in 0.1%, and celiac disease in 4.3% of the patients. Chronic complications including neuropathy, retinopathy, and persistent microalbuminuria were present in 2.6%, 1.4%, and 5.4% of the patients, respectively. Diabetic nephropathy was not present in any of the patients. Mean diabetes duration and age of patients with neuropathy, retinopathy and microalbuminuria were significantly different from the patients without these long-term complications (p

Patients with DAX-1 gene mutations on chromosome Xp21 usually present with adrenal hypoplasia congenita and hypogonadotropic hypogonadism. Yet, neither correlation between the type of mutation and the age of onset of the disease nor mechanism of the mutation on puberty is fully understood. Here, we report a novel non-sense p.Gln208X mutation in the amino terminal domain of the DAX-1 gene observed in a large family with three boys presenting with adrenal manifestations at different ages. Furthermore, two boys developed spontaneous puberty that failed to progress at similar ages, whereas the other boy developed precocious puberty at 10 month of age. The unique structure of the DAX-1 gene may explain this phenotypic variability. However, more studies are needed to understand the role of the DAX-1 gene on development of the adrenal gland and hypothalamus-pituitary-gonadal axis.

Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder with a wide spectrum of clinical manifestations. BBS is predominantly characterized by dysmorphic distal extremities, obesity, structural abnormalities or functional impairment of the kidney, rod cone dystrophy, and varying degrees of mental retardation. Hypogenitalism is also present, only in males, and in all cases, facial similarities. We present herein two sisters with BBS, one of whom also had cerebellar vermis hypoplasia and cerebral and cerebellar atrophy, and both of whom had ocular abnormalities in the form of epicanthus and telecanthus and metabolic syndrome. It should also be emphasized that the occurrence of cerebellar involvement such as cerebellar vermis hypoplasia and cerebellar atrophy in BBS is very unusual. The association of abnormalities in brain development and other facial features in children with BBS is not seen frequently; thus, these abnormalities should be searched carefully.

To determine thyrotropin (TSH) and thyroid hormones reference ranges in healthy term newborns during the neonatal period and to assess the ranges of thyroid volume in newborns using ultrasound scanning.Blood samples were collected from 296 healthy newborns at birth (cord; n: 47) and before feeding on the 1st, 3rd, 5th, 7th, 10th, 14th, and 28th days of life. The levels of TSH and thyroid hormones of the newborns were then compared with results from 50 healthy adults. Thyroid ultrasonography (USG) was performed by the same radiologist on 38 newborns aged 10 days.TSH and thyroid hormone levels in newborns were statistically higher than those in adults for each day (p0.001). Serum TSH concentration on the 1st day of life was higher than at other times (p0.001). Mean TSH concentration reverted to the cord level at the 5th or 7th day of life (p0.05). TSH levels were no higher than 10 mIU/ml after 2 weeks postnatal age. There was no correlation between hormone levels and Ponderal index (PI), birth weight, gender, or delivery type. Mean thyroid volume was 0.72 ± 0.24 ml (0.36-1.62 ml).We conclude that our results are important for CH screening regarding time-dependent changes of TSH and thyroid hormones besides diagnosis of thyroid hypoplasia or hyperplasia.

Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score −1 to −2.5. There are many causes for osteopenia including calcium and vitamin D deficiency and inactivity. Genetics plays an important role in a person’s bone mineral density and often Caucasian women with a thin body habitus who are premenopausal are found to have osteopenia. Correction of calcium and vitamin D deficiency and walking 3 to 5 miles a week can often improve bone density in the hip and spine. There are a variety of pharmaceutical agents that have been recommended for the treatment of osteopenia and osteoporosis including hormone replacement therapy, selective estrogen receptor modulator therapy, anti-resorptive therapy. In addition patients with osteoporosis who have failed anti-resorptive therapy can have a significant improvement in their bone density with anabolic therapy.