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Objectives The aim of this study is to determine the plasma free carnitine and acyl-carnitine levels at the time of diabetic ketoacidosis (DKA) diagnosis, and at the end of DKA treatment and to investigate their association with the duration of DKA treatment in children with DKA. Methods A total of 40 children with DKA who were treated consecutively in a tertiary health center for DKA were included in the study. The median age of the children was 11.3 years (1.1–17.5) and 25 of them (62.5%) were girls. In addition to routine blood tests, plasma free carnitine and acyl-carnitine levels were measured just before the start of intravenous insulin therapy and at the time of discontinuation of intravenous insulin therapy when DKA therapy was completed. Results There was no difference in plasma free carnitine and acyl-carnitine levels before and after DKA treatment (p=0.776 and p=0.743 respectively). However, while the frequency of low plasma free carnitine was 30% at the beginning of the treatment, it was observed that this frequency was 20% at the end of the DKA treatment. There was no correlation between duration of DKA treatment and plasma free carnitine or acyl-carnitine levels at admission (p=0.497, r=−0.111 and p=0.474, r=0.116 respectively). Conclusions There is no a relationship between duration of DKA treatment and plasma free carnitine or acyl-carnitine level at admission in children with DKA.

Objective: In this study, we aimed to investigate the clinical features of children who received growth hormone (GH) treatment with a diagnosis of GH deficiency (GHD). Material and Methods: The clinical features of children treated with GH treatment between 01.06.2013-31.12.2018 in a tertiary healthcare service were retrospectively analyzed. Children with isolated GHD and children with panhipopituitarism were compared. Results: In total, 70 boys 118 children were included in the study. 78 (66.3%) of patients were treated with GH due to isoleted GHD, 14 (11.9%) due to bio-inactive GH syndrome, 9 (7.6%) due to panhypopituitarism, 6 (5.1%) due to GH neurosecretory dysfunction, 6 (5.1%) due to Turner syndrome and 5 (4.2%) due to off-label reasons.There were no significant diffrence between groups of isoleted GHD and panhipopituitarism regarding gender, age of diagnosis and oxological features at diagnosis. Serum IGF-1 SDS, IGFBP-3 SDS, TSH and pik GH response to klonidine test were lower in panhipopituitarism group (p=0.026, p=0.002, p=0.009 ve p=0.005, respectively). Significantly higher growth rates in the first 2 years in the patient with panhypopituitarism were determined (p

Aim: Autoimmune polyendocrinopathy syndrome type 3 (APS3) is defined as the presence of autoimmune thyroid disease along with another autoimmune disorder other than Addison’s disease. If an autoimmune gastrointestinal disease is a component of the syndrome, it is defined as APS3b. In this study, we aimed to determine the frequency of APS3b in patients diagnosed with type 1 diabetes (T1D) in childhood. Material and Methods: A patient group of 446 children (232 males) with T1D whose follow-ups were conducted between 01.06.2013 and 31.08.2019 was included in the study. Hashimoto’s thyroiditis (HT) was defined with positive anti-TPO and/or anti-Tg test results whereas autoimmune enteropathy was defined with histologic findings which consisted with celiac disease (CD) in small bowel biopsy following a positive anti tissue transglutaminase IgA. Results: In total, 61 (13.7%) patients had HT and 34 (7.6%) patients had CD. While 87 (19.5%) of the patients had HT or CD, the occurrence of both HT and CD (APS3b) in the same patient was observed in only 4 patients (3 females) (0.9%). Patients with APS3b had low median age of diagnosis compared with patients with HT or CD alone, and patients with none of these two diseases, but the difference is not statistically significant (p=0.087). Conclusion: While HT or CD has been detected in approximately one-fifth of children with T1D, APS3b is rarely observed in this patient group.

Corona virus disease 2019 (COVID-19) includes a wide range of diseases with varying pathophysiology in children and adults. Although the disease mainly affects the respiratory tract, neurological involvement is also reported in the literature. The most common neurological complaints due to COVID-19 are headache, dizziness and anosmia. Acute necrotizing myelitis, acute demyelinating encephalomyelitis (ADEM), acute axonal neuropathy, acute transverse myelitis, and Guillian-Barre syndrome have been reported as neurological dysfunctions associated with COVID-19.A ten-year-old male patient presented with complaints of fever, headache and generalized muscle pain. The patient developed inability to walk and significant muscle weakness during the disease course, and he was diagnosed with ADEM and transverse myelitis on magnetic resonance imaging (MRI). As the etiological agent, COVID-19 was detected in both the respiratory panel sample and the cerebrospinal fluid (CSF) sample by the polymerase chain reaction (PCR) technique. Pulse steroid, IVIG, and plasmapheresis treatment were administered. He started to stand with support during follow-up.We presented a case of COVID-19 related ADEM and transverse myelitis who responded to pulse steroid, IVIG, and plasmapheresis.

Introduction: Ultrasonography and fine needle aspiration biopsy are reliable diagnostic methods used to predict malignancy in thyroid nodules. They are useful in identifying patients for therapy or preventing unnecessary surgery. Materials and Methods: The aim of this study was to compare clinical and ultrasonographic findings with fine needle aspiration biopsy and histopathological examination results in children with thyroid nodules. Retrospective study. This multicentre study included pediatric patients with thyroid nodules, followed up between July 2002 and November 2019 in nine Turkish Pediatric Endocrinology Units. Clinical, ultrasonographic, cytological and histopathological findings (malignant or benign) were analyzed retrospectively. Fine needle aspiration biopsy findings were classified according to American Thyroid Association criteria. Results: A total of 203 children were included, of whom 82.3% (n=167) were female. Mean±standard deviation age was 14.06±2.26 (range 3.7-19) years. Cytological diagnoses were: non–diagnostic or unsatisfactory 1.9%; benign 59.6%; atypia or follicular lesion of undetermined significance, suspicious for follicular neoplasm in 2.4%; suspicious for malignancy 12.8%; and malignant in 1.9%. Surgery was performed in 59 (29.1%) patients. In total 33 (16.3%) patients were diagnosed with malignancy. In patients with benign fine needle aspiration biopsy results, malignancy was detected in 17.6% when they underwent surgery. Malignancy was present in 44.4% of the patients with cytologically determined atypia or follicular lesion of undetermined significance. The diagnostic accuracy of fine needle aspiration biopsy was 79%. Conclusion: This study is first multicentre study investigating thyroid nodules in children and adolescents in Turkey. In this population fine needle aspiration biopsy has an important role in diagnosis, but ultrasonographic features of nodule should also be taken into consideration. Atypia or follicular lesion of undetermined significance may be of greater clinical significance than has previously been reported. Giriş: Ultrasonografi ve ince iğne aspirasyon biyopsisi, tiroid nodüllerinde maligniteyi öngörmede kullanılan güvenilir tanı yöntemleridir. Doğru hastayı bulmada ve gereksiz ameliyatları önlemede faydalıdırlar. Bu çalışmanın amacı tiroid nodülü bulunan çocuklarda ince iğne aspirasyon biyopsisi ile klinik, ultrasonografik bulgular ve histopatolojik inceleme sonuçlarını karşılaştırmaktır. Gereç ve Yöntem: Bu çok merkezli çalışmada, Türkiye’den 9 farklı Pediatrik Endokrinoloji Ünitesinde Temmuz 2002-Kasım 2019 tarihleri arasında takip edilen tiroid nodüllü hastaların verileri incelendi. Tiroid nodüllü çocuk hastaların klinik, ultrasonografik, sitolojik ve histopatolojik bulguları (malign veya benign) retrospektif olarak incelendi. İnce iğne aspirasyon biyopsisi ile takip edilen hastaların bulguları Amerikan Tiroid Birliği’ne göre sınıflandırıldı. Bulgular: Çalışmaya toplam 203 çocuk dahil edildi, hastaların %82,3’ü (n=167) kadındı. Hastaların ortalama yaşı 14,06±2,26 yıl (dağılım 3,7-19 yıl) idi. Hastaların sitolojik tanıları şu şekildeydi: %1,9’u tanı dışı veya yetersiz, %59,6’sı benign, önemi belirsiz atipi veya foliküler lezyon, %2,4’ü foliküler neoplazm şüpheli, %12,8’i malignite şüphesi, %1,9’u malign idi. 59 hastaya cerrahi uygulandı. Otuz üç hastaya malignite tanısı konuldu. Benign ince iğne aspirasyon biyopsisi sonucu olan hastaların %17,6’sında ameliyat olduklarında malignite saptandı. Önemi belirlenemeyen sitolojiye sahip atipi veya foliküler lezyonu olan hastaların %44,4’ünde malignite mevcuttu. İnce iğne aspirasyon biyopsisinin tanısal doğruluğu %79 idi. Sonuç: Bu çalışma, Türkiye’de çocuk ve ergenlerde tiroid nodüllerini araştıran ilk çok merkezli çalışmadır. Tiroid nodülü olan çocuklarda ince iğne aspirasyon biyopsisi tanıda önemli bir yere sahiptir ancak nodülün ultrasonografik özellikleri de dikkate alınmalıdır. Atipi veya önemi belirsiz foliküler lezyon bilinenden daha önemli olabilir.

BACKGROUND The present study investigated the relationship between detection of organic pathologies with magnetic resonance imaging of the pituitary gland, clinical and laboratory findings, and treatment response. MATERIAL AND METHODS The study included a total of 183 patients who had isolated growth hormone deficiency, received at least 1 year of treatment, returned regularly for follow-ups, and whose pituitary magnetic resonance images were available. The patients were divided into 2 groups: those with and without pathological evidence with magnetic resonance imaging. Clinical and laboratory features and treatment responses were compared between patients with and without pathological evidence with magnetic resonance imaging. RESULTS Of the 183 patients, 105 were females and 78 were males, and 114 patients (62.2%) were prepubertal and 69 patients (37.8%) were pubertal. Their mean age was 10.01±3.25 years (1-17.6 years). Pituitary images of 153 (83.6%) patients were normal. Of the patients with detected pathologies (16.4%), 19 (10,4%) had pituitary hypoplasia, 5 (2.7%) had partial empty sella, 3 (1.7%) had ectopic neurohypophysis and 3 (1.7%) had empty sella, pineal, and arachnoid cyst. A statistically significant increase was observed in the height increase rate after treatment compared to before treatment in both groups (p

BACKGROUND This study aimed to determine the frequency and duration of remission in children and adolescents newly diagnosed with type 1 diabetes and to investigate factors associated with these parameters. MATERIAL AND METHODS Fifty patients newly diagnosed with T1DM were followed for 1 year. Daily insulin requirement of less than 0.5 U/kg/day dose when the HbA1c value is less than 8% was regarded as partial remission. Patients were grouped according to their remission duration. Clinical and laboratory characteristics of the remission groups and non-remission groups were compared to find factors influencing remission and to investigate their contribution to the duration of remission. RESULTS Remission was observed in 24 (48%) out of 50 patients included in the study. Remission frequency was found to be associated with age, sex, and puberty. Longer duration of remission was more frequent in the younger age group, in pre-pubertal stage, and in male patients. Daily insulin dose and basal insulin requirement of those who went into remission was found to be significantly lower than in the other patients at discharge. CONCLUSIONS Decreased daily total and basal insulin requirement at discharge are valuable in predicting remission. The remission process in type 1 diabetes still has many characteristics that need to be clarified. Therefore, more extensive studies are needed.

OBJECTIVE To assess the incidence of T1D in children aged

Çalışmada 24 yazar bulunmaktadır. Bu yazarlardan sadece Bursa Uludağ Üniversitesi mensuplarının girişleri yapılmıştır. Objective: Hypophosphatemic rickets (HR) is a rare renal phosphate-wasting disorder, which is usually X-linked and is commonly caused by PHEX mutations. The treatment and follow-up of HR is challenging due to imperfect treatment options. Methods: Here we present nationwide initial and follow-up data on HR. Results: From 24 centers, 166 patients were included in the study. Genetic analysis (n = 75) showed PHEX mutation in 80% of patients. The mean follow-up period was 6.7 +/- 2.4 years. During the first 3-years of treatment (n = 91), mild increase in phosphate, decrease in alkaline phosphatase and elevation in parathyroid hormone (PTH) levels were detected. The height standard deviation scores were -2.38, -2.77, -2.72, -2.47 at initial, 1st, 2nd and 3rd year of treatment, respectively (p > 0.05). On follow-up 36% of the patients showed complete or significant improvement in leg deformities and these patients had similar phosphate levels at presentation with better levels in 1st and 2nd years of treatment; even the treatment doses of phosphate were similar. Furthermore, 27 patients developed nephrocalcinosis (NC), the patients showed no difference in biochemical differences at presentation and follow-up, but 3rd year Pill was higher. However, higher treatment doses of phosphate and calcitriol were Found in the NC group. Conclusion: HR treatment and follow-up is challenging and our results showed higher treatment doses were associated with NC without any change in serum phosphate levels, suggesting that giving higher doses led to increased phosphaturia, probably through stimulation of fibroblast growth factor 23. However, higher calcitriol doses could improve bone deformities. Safer and more efficacious therapies are needed.

Background: Idiopathic intracranial hypertension (IIH) is one of the most important and rare complications of obesity. Prevalence of IIH in childhood obesity is not known. The purpose of this study was to determine the prevalence of IIH in obese children and adolescents and to investigate the relevant factors. Methods: In this study, 1058 obese children and adolescents between 2 and 18 years of age were included. Funduscopic examination was conducted for all subjects. In cases with papilledema, increase in intracranial pressure was clarified by measuring CSF pressure with a lumbar puncture. Other causes of IIH were ruled out with clinical, laboratory tests and imaging techniques. Results: Idiopathic intracranial hypertension was diagnosed in 14 subjects (1.32%). Rates of headache and systemic hypertension in subjects with IIH was determined to be 78.6% and 28.6%, respectively. Morning cortisol, fasting insulin and HOMA-IR values were found to be significantly higher in this cases (p Conclusions: In childhood obesity, IIH should be kept in mind as a serious complication. Funduscopic examination is an easy method that suggests IIH. In particular, obese children with systemic hypertension and refractory headache should be considered for IIH.

Objective: Clinicians should show an awareness on the menstrual characteristics of adolescent girls which may differ from adults in some aspects. To define menstrual cycle features among high school girls residing in a city center in southeastern Turkey. Methods: A cross-sectional survey was conducted on 1256 girls attending a high school located in the city center of Elazig, Turkey. Data from 879 girls (median age, 16.2 years; range, 13.6-19.2 years) who agreed to participate in the study and had started to menstruate were evaluated. Results: Mean age at menarche was 12.7±1.3 years (range, 8.2-17.3 years). The mean cycle duration was 28.7±4.4 days, and the mean menstrual flow lasted 5.9±1.3 days. Severe, moderate, and mild dysmenorrhea was reported in 29%, 43%, and 28% of the girls, respectively, and 52% used analgesics for dysmenorrhea. A total of 34% of the girls defined their menstrual cycle as irregular, and 32% reported school absenteeism due to menstruation-associated complaints (pain and/or heavy bleeding). Menstrual bleeding affected attendance to classes and other school activities, daily work, social, family, and friend relationships, as well as sports/exercise activities in 43%, 49%, 58%, 48%, 44%, and 60% of the participants, respectively. In total, 30% of the responders had a problem with menstruation, and 12% and 17% of these stated that they consulted a primary care physician or specialist, respectively. Conclusion: Dysmenorrhea was found to be common in adolescent Turkish girls and to affect daily life in approximately half of the girls.

Salgilanan haberci molekuller olan sitokinler hedeflerindeki hucreleri belirli membran reseptorlerini baglayarak etkiler. Pek cok hucre islevi sitokin reseptoru aracili hucre ici sinyal mekanizmalarinin uyeleri tarafindan duzenlenir. Sitokin reseptorlerinin siniflandirmasi hucre disi sitokin baglayici alanlar ve ortak hucre ici sinyal mekanizmalarinin yapisal homolojilerine dayanir. Sitokin reseptorlerinin temel bir siniflandirmasi tip 1 sitokin reseptorlerini, tip 2 sitokin reseptorlerini, tumor nekroz faktor reseptoru ailesini, interlokin 1 reseptoru ailesini ve yedi transmembran G proteinkenetli reseptorleri icerir. Bu yazida tip 1 sitokin reseptorlerinin yapisina ve iliskili sinyal yollarina odaklanildi. Anahtar sozcukler: Sitokinler; reseptorler; tip 1 sitokin reseptorleri. ABSTRACT

Background: Although the relationship between celiac disease (CD) and type 1 diabetes mellitus (DM) is well recognized, there are no studies of this association in Southeast Region of our country. The aim of this study was to identify the prevalence of CD in a group of children with type 1 DM undergoing treatment in the Pediatric Endocrinology Department of our hospital. Methods: The patients followed up with diagnosis of type 1 DM in the Outpatient Clinics of Pediatric Endocrinology in our hospital were enrolled in the study. Anti-tissue transglutaminase (anti-tTG) IgA was measured in blood collected from these patients. Patients with anti-tTG IgA positive then had duodenal biopsy. Biopsy samples were obtained through an endoscopy procedure. Biopsy specimens were evaluated and classified according to Marsh classification. Results: The study participants consisted of 218 patients (girls, n = 117: 53.7%; boys, n = 101: 46.3%) with type 1 DM with a mean age of 12.9 ± 4.5 years (range 2 - 18 years). Sixteen patients had anti-tTG IgA positive. All of the cases with positive serology underwent duodenal biopsy. On histopathological evaluation, 11 patients had mucosal alterations compatible with celiac disease; five patients had non-specific histologic changes or normal biopsies. The prevalence of CD was 5% among 218 patients. Five cases with normal biopsy results were evaluated as having latent CD. Conclusions: These findings indicate that the prevalence of CD in children with type 1 DM was higher than that in general population. Periodic screening of diabetic children and adolescents in terms of CD is indicated to ensure early diagnosis and treatment. Int J Clin Pediatr. 2016;5(2):32-35 doi: http://dx.doi.org/10.14740/ijcp239w

The aim of this study was to determine the frequency of remission and related factors in children and adolescents with T1DM. The medical files of patients, diagnosed at our clinic with T1DM in a sequential 3-year period and followed up for at least one year, were retrospectively reviewed. Measurements of pH, blood glucose, insulin, C-peptide, HbA1c and diabetes related auto-antibodies were recorded at diagnosis along with presence of diabetic keto-acidosis and daily insulin requirements at initial discharge. Subsequent HbA1c values and daily insulin requirements were recorded at follow up visits. Partial remission was defined as the value of adjusted HbA1c of ≤ 9. Adjusted HbA1c is equal to HbA1c (percent) + [4 x insulin dose (units per kilograms per day)]. Patients were evaluated according to age groups (group 1 ≤ 10 years; Group 2 > 10 years). Data of 111 patients (males = 56) were evaluated [mean age 9.4 ± 4.2 years (0.8–16.2)]. Complete remission was observed in none of our patients. Partial remission was observed in 67 patients (60.4 %), and partial remission was observed more frequently in children ≤ 10 years of age (p = 0.043). No correlation was identified between clinical and laboratory characteristics at the time of diagnosis and frequency of partial remission. The frequency of partial remission was higher in younger children during the period of observation. Additionally, clinical and laboratory characteristics at the time of diagnosis were not helpful in predicting the degree of remission in this study group.

The aim of the presented study was to evaluate the prevalence of isolated hyperthyrotropinemia (IH) in obese children and the relation between anthropometric and metabolic parameters.Hospital records of the children, who presented to the Pediatric Endocrinology outpatient clinic of our institution with obesity, and age and gender-matched healthy children, who had undergone thyroid function test for any reason were retrospectively reviewed.The prevalence of IH was significantly higher in the obese group than in the controls (9.2 and 3.8 %, respectively). Body mass index-standard deviation score (BMI-SDS), thyroid-stimulating hormone (TSH), lipid parameters were significantly different in the obese group than in the control group. A positive correlation between TSH and BMI-SDS and negative correlation between TSH and free T4 (fT4) levels were found in obese subjects. Stepwise multiple linear regression analysis confirmed that BMI-SDS, fT4 and triglyceride levels were the strongest independent variables correlated with TSH level in obese subjects (r (2) = 0.046, p = 0.001).IH prevalence is higher in obese children as compared to healthy children and the increase in TSH level correlates negatively with serum fT4 and positively with BMI-SDS and triglyceride levels in obese children.

Background The aim of this study was to determine the individual and familial factors associated with metabolic control in children with type 1 diabetes (T1DM). Methods The study was performed in 93 children with T1DM between the ages of 3 and 19 years. Children and their families completed questionnaires on sociodemographics and data associated with diabetes. Medical information from the charts was also recorded. Results Older age, longer diabetes duration and higher hospitalization rate for acute complications were positively associated with poor metabolic control. Good school performance, regular hospital visits, young maternal age, high paternal education level and fewer numbers of siblings were found to be negatively associated with poor metabolic control. Conclusions Multiple individual and family-level factors are associated with metabolic control. These data may aid in identification of diabetic children and adolescents who have a higher risk of poor metabolic control.

We wanted to examine the relationship between initial growth response to recombinant human Growth Hormone (rhGH) treatment and body composition in children with growth hormone deficiency (GHD).Forty-two patients (21 boys and 21 girls) aged between 5.7-15.5 years (mean age: 10.8 ± 2.6 years) with isolated GHD. The auxological and laboratory data (GH and IGF-I levels) and results of bioelectrical impedance analyses were evaluated. Children with GHD were followed up for 12 months and categorized according to growth response to rhGH into good and poor responders (change in height of0.7 SDS or0.7 SDS over one year respectively). Mean doses of rhGH per kg of fat free mass (FFM) were calculated.Forty-eight percent of patients showed a good growth response to rhGH therapy. At study entry, mean age, height SDS, weight SDS, serum IGF-1 SDS, IGFBP-3 SDS, growth velocity prior to rhGH therapy, GH after clonidine and l-dopa were similar in the two groups. At baseline, BMI SDS and waist-hip ratio were significantly higher in good responders (p = 0.02 and p = 0.006, respectively). Good responders had lower percentages of FFM (73.4 ± 8.9 vs. 83.1 ± 5.9) and total body water (TBW) (56.5 ± 5.3 vs. 63.1 ± 4.4), compared to poor responders (p0.05). There were significant correlations between changes in height SDS over one year and baseline body composition in children with GHD on rhGH treatment (r = -0.617 for percentage of FFM, r = -0.629 for percentage of TBW, p0.001). A correlation between BMI SDS, waist-hip ratio, mean rhGH dose per FFM and growth response was observed only in prepubertal subjects.Baseline body composition data in children with GHD can be used to predict the growth response to rhGH treatment. A management strategy that involves titrating rhGH dose according to FFM as a means of optimizing the growth response to intervention requires further study.

Aim The negative effect of antiepileptic drugs on bone health has been previously documented. However, which antiepileptic drug is safer in regard to bone health is still questionable. Our aims were to investigate the bone mineral density alterations in pediatric patients who receive antiepileptic medication for a minimum of two years and to compare the results of these drugs. Materials and methods Fifty-nine patients (32 males, 27 females; mean age: 8.6 ± 4.6 years) and a control group (13 males, 7 females; mean age: 7.6 ± 3.3 years) were included in the study. The patients were receiving necessarily the same antiepileptic drugs (AEDs) for at least two years, and none of the patients had mental retardation or cerebral palsy. The patients were divided into three groups: group 1 (patients receiving levetiracetam (LEV), n = 20), group 2 (patients receiving carbamazepine (CBZ), n = 11), and group 3 (patients receiving valproic acid (VPA), n = 28). Plasma calcium (Ca), phosphorus (P), parathyroid hormone (PTH), alkaline phosphatase (ALP), vitamin D levels, and bone mineral density (BMD) values of femur and vertebras (L1-4) and z-scores (comparative results of BMD values of the patients with the age- and gender-matched controls in device database) of the groups were compared. Results The differences between P, PTH, ALP and age, Ca and BMD results, and vitamin D levels of the patients in all four groups was not statistically significant according to Kruskal–Wallis test (p > 0.05). The z-score levels of all the patient and control groups were also not statistically significantly different compared with each other. Conclusion In contrast to previous reports in pediatric patients, our study has documented that there is not a considerable bone loss in patients receiving long-term AED medication. Although levetiracetam has been proposed as bone-protecting medication, we did not observe any difference between AEDs regarding bone mineral density after two years of treatment.

WOS: 000351307200006, PubMed ID: 25800474, Objective: Approaches to diagnosis and treatment of growth hormone deficiency (GHD) in children vary among countries and even among centers in the same country. This survey, aiming to facilitate the process of preparing the new consensus on GHD by the Turkish Pediatric Endocrinology and Diabetes Society, was designed to evaluate the current practices in diagnosis and treatment of GHD in different centers in Turkey. Methods: A questionnaire covering relevant items for diagnosis and treatment of GHD was sent out to all pediatric endocrinology centers. Results: Twenty-four centers returned the questionnaire. The most frequently used GH stimulation test was L-dopa, followed by clonidine. Eighteen centers used a GH cut-off value of 10 ng/mL for the diagnosis of GHD; this value was 7 ng/mL in 4 centers and 5 ng/mL in 2 centers. The most frequently used assay was immunochemiluminescence for determination of GH, insulin-like growth factor-1 and insulin-like growth factor binding protein-3 concentrations. Sex steroid priming in both sexes was used by 19 centers. The most frequently used starting dose of recombinant human GH (rhGH) in prepubertal children was 0.025-0.030 mg/kg/day and 0.030-0.035 mg/kg/day in pubertal children. Growth velocity was used in the evaluation for growth response to rhGH therapy in all centers. Anthropometric measurements of patients every 3-6 months, fasting blood glucose, bone age and thyroid panel evaluation were used by all centers at follow-up. Main indications for cessation of therapy were decreased height velocity and advanced bone age. Fourteen centers used combined treatment (rhGH and gonadotropin-releasing analogues) to increase final height. Conclusion: Although conformity was found among centers in Turkey in current practice, it is very important to update guideline statements and to modify, if needed, the approach to GHD over time in accordance with new evidence-based clinical studies.

Objective: There has recently been an increase in the incidence of Type 1 diabetes mellitus (T1DM), particularly among younger children. The purpose of the present study was to analyze the differences in the clinical and laboratory fi ndings at presentation between the younger (≤6 years of age) and older (>6 years of age) groups of patients with T1DM. Material and Methods: A retrospective scan was performed on the hospital data of 99 children with T1DM registered during the past 10 years at the pediatric endocrinology clinic of Ankara Children’s Haematology Oncology Training Hospital (49 patients were ≤6 years old and 50 were >6 years old). The clinical and laboratory fi ndings at the fi rst presentation to the clinic were reviewed. Results: The mean duration of symptoms before presentation was shorter (15.2±1.9 and 27.7±5.1 days respectively) in the younger age group. The transition time from intravenous insulin to subcutaneous treatment was signifi cantly longer than in the older patients (17.1±1.3 and 13.6±1.2 hours respectively). Weight loss was found to be more signifi cant among older children and HbA1c was signifi cantly lower in the younger age group. A signifi cantly higher proportion of patients in the younger group was found to be positive for at least one of the diabetes-associated antibodies (p

WOS: 000348684000001, PubMed ID: 25296579, Alstrom syndrome (ALMS) is an autosomal recessive disease characterized by multiple organ involvement, including neurosensory vision and hearing loss, childhood obesity, diabetes mellitus, cardiomyopathy, hypogonadism, and pulmonary, hepatic, renal failure and systemic fibrosis. Alstrom Syndrome is caused by mutations in ALMS1, and ALMS1 protein is thought to have a role in microtubule organization, intraflagellar transport, endosome recycling and cell cycle regulation. Here, we report extensive phenotypic and genetic analysis of a large cohort of Turkish patients with ALMS. We evaluated 61 Turkish patients, including 11 previously reported, for both clinical spectrum and mutations in ALMS1. To reveal the molecular diagnosis of the patients, different approaches were used in combination, a cohort of patients were screened by the gene array to detect the common mutations in ALMS1 gene, then in patients having any of the common ALMS1 mutations were subjected to direct DNA sequencing or next-generation sequencing for the screening of mutations in all coding regions of the gene. In total, 20 distinct disease-causing nucleotide changes in ALMS1 have been identified, eight of which are novel, thereby increasing the reported ALMS1 mutations by 6% (8/120). Five disease-causing variants were identified in more than one kindred, but most of the alleles were unique to each single patient and identified only once (16/20). So far, 16 mutations identified were specific to the Turkish population, and four have also been reported in other ethnicities. In addition, 49 variants of uncertain pathogenicity were noted, and four of these were very rare and probably or likely deleterious according to in silico mutation prediction analyses. ALMS has a relatively high incidence in Turkey and the present study shows that the ALMS1 mutations are largely heterogeneous; thus, these data from a particular population may provide a unique source for the identification of additional mutations underlying Alstrom Syndrome and contribute to genotype-phenotype correlation studies., NIHUnited States Department of Health & Human ServicesNational Institutes of Health (NIH) - USA [HD036878]; DPTTurkiye Cumhuriyeti Kalkinma Bakanligi [1206400603]; TUBITAKTurkiye Bilimsel ve Teknolojik Arastirma Kurumu (TUBITAK) [111S217]; TurkeyTurkiye Bilimsel ve Teknolojik Arastirma Kurumu (TUBITAK), We are grateful to Alstrom Syndrome International and Nevin Bengur, Alstrom Syndrome-Canada, Alstrom Sendromu Dernegi Turkey. We are grateful to A Dufke, A Kiraz, F Silan, H Onal, JR Lupski, N Narin, O Cogulu, S Gunis-Bilgili, S Tasdemir, T Ucar, Y Seckin, and many physicians who referred their patients for this study. This study was supported, in part, by NIH HD036878 (JKN, JDM, GBC), DPT 1206400603 and TUBITAK, 111S217, Turkey (AO and RKO).

PubMedID: 25192046 Gonadotropin-releasing hormone (GnRH) neurons originate outside the CNS in the olfactory placode and migrate into the CNS, where they become integral components of the hypothalamic-pituitary-gonadal (HPG) axis. Disruption of this migration results in Kallmann syndrome (KS), which is characterized by anosmia and pubertal failure due to hypogonadotropic hypogonadism. Using candidate-gene screening, autozygosity mapping, and whole-exome sequencing in a cohort of 30 individuals with KS, we searched for genes newly associated with KS.We identified homozygous loss-of-function mutations in FEZF1 in two independent consanguineous families each with two affected siblings. The FEZF1 product is known to enable axons of olfactory receptor neurons (ORNs) to penetrate the CNS basal lamina in mice. Because a subset of axons in these tracks is the migratory pathway for GnRH neurons, in FEZF1 deficiency, GnRH neurons also fail to enter the brain. These results indicate that FEZF1 is required for establishment of the central component of the HPG axis in humans.. © 2014 by The American Society of Human Genetics. All rights reserved.

To determine the prevalence of and risk factors for decreased bone mineral density (BMD) and vitamin D deficiency in children and adolescents with congenital adrenal hyperplasia (CAH).This study was conducted on 30 girls and 22 boys with CAH (age range = 5-20 years) with median age of 12.0 years. BMD values of lumbar vertebras (L1-L4), which were determined by dual-energy X-ray absorptiometry, were used to calculate z-scores according to chronological age. A serum 25-hydroxyvitamin D level of15 ng/mL was considered as indicative of vitamin D deficiency.Mean vitamin D level was 14.8 ng/mL in the whole group. Twenty-seven (51.9%) children had vitamin D deficiency and it was more prevalent during pubertal ages. Vitamin D levels were found to be significantly lower in pubertal females. BMD z-score was below -1 standard deviation in 40.1% of cases with significantly higher mean age and lower vitamin D levels.Decreased BMD z-score and vitamin D deficiency were common in these children with CAH. Vitamin D levels were significantly lower in girls and pubertal children. Decreased BMD z-score was related to older age and lower levels of vitamin D. Periodical controls of vitamin D status and vitamin D supplementation were recommended in these cases, whenever required.

Objective: Screening of complications is an important part of diabetes care. The aim of this study was to investigate diabetic complications and related risk factors in adolescents with type 1 diabetes mellitus (T1DM). Methods: This cross-sectional study was conducted on type 1 diabetics who were over 11 years of age or had a diabetes duration of 2 years and included 155 adolescents with T1DM (67 male, 88 female). The mean age of the patients was 14.4±2.1 years. Mean diabetes duration was 6.3±2.9 years. The patients were screened for diabetic nephropathy, retinopathy and peripheral neuropathy. Results: Mean glycosylated hemoglobin (HbA1c) level of the study group was 8.4%. The frequency of microalbuminuria and peripheral neuropathy were 16.1% and 0.6%, respectively. None of the patients had diabetic retinopathy. Dyslipidemia and hypertension rates were 30.3% and 12.3%, respectively. Risk factors associated with microalbuminuria were hypertension, higher HbA1c levels, longer diabetes duration and dyslipidemia. Conclusion: Early diagnosis and treatment of hypertension and dyslipidemia as well as achieving a better metabolic control are important in prevention or postponement of complications in patients with T1DM. Yearly screening for diabetic nephropathy should be started 2 years after the onset of the diabetes. Conflict of interest:None declared.

This study was designed to assess the effect of recombinant human growth hormone (rhGH) therapy on left-ventricular (LV) chamber size and function in children with idiopathic isolated growth hormone deficiency (GHD) using conventional echocardiography and tissue Doppler imaging (TDI). Thirty patients (19 boys and 11 girls) with idiopathic isolated GHD were followed-up for 12 months. Mean age of patients was 11.0 ± 2.6 years (range 6.3–15.5). At baseline and at 3, 6, and 12 months of treatment, the structure of the left ventricle was assessed by conventional echocardiography and myocardial rates and time intervals by TDI. There was a significant increase in LV mass (LVM) compared with pretreatment values. Like LVM, relative wall thickness (RWT) was also increased significantly. The significant increase in LVM indexed to body surface area and RWT became apparent at month 3 of treatment with a significant increase in LVM indexed to height2.7 at treatment month 6. Normalized LVM increased as early month 3 of treatment, and a steady increase was observed until month 12. However, no patient had LVM > +2 standard deviation scores at month 12 of treatment. No significant differences were observed in functional parameters of the left ventricle and the interventricular septum. The results of this study showed that rhGH therapy causes an increase in myocardial mass without changing the geometry or function of the myocardium. Therefore, the increase in myocardial mass appears to be concentric, thus causing remodeling instead of hypertrophy.

The aim of this study was to determine the individual and familial factors associated with metabolic control in children with type 1 diabetes (T1DM).The study was performed in 93 children with T1DM between the ages of 3 and 19 years. Children and their families completed questionnaires on sociodemographics and data associated with diabetes. Medical information from the charts was also recorded.Older age, longer diabetes duration and higher hospitalization rate for acute complications were positively associated with poor metabolic control. Good school performance, regular hospital visits, young maternal age, high paternal education level and fewer numbers of siblings were found to be negatively associated with poor metabolic control.Multiple individual and family-level factors are associated with metabolic control. These data may aid in identification of diabetic children and adolescents who have a higher risk of poor metabolic control.

Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is a rare syndrome characterized by complete or partial agenesis of the uterus and vagina, due to a congenital defect of the Mullerian duct. Affected individuals have a 46,XX karyotype and a normal female phenotype. MRKH syndrome may be isolated (type I MRKH syndrome) or associated with renal, cardiac, and skeletal anomalies, short stature, and auditory defects. The latter is defined as type II MRKH syndrome or the Mullerian duct aplasia/hypoplasia, renal agenesis/ectopy, and cervicothoracic somite dysplasia (MURCS) association. The majority of patients with MRKH syndrome present with primary amenorrhea. We report a case of type II MRKH syndrome who has been referred by a pediatric surgeon for detection of gonadal function. During an inguinal hernia operation, the left ovary had been observed in the hernia sac. Clinical and radiological evaluation of the patient showed an absence of the uterus and left kidney, and cervical hemi vertebra. Based on these findings, the patient was diagnosed as having type II MRKH syndrome.

The aim of this cross-sectional study was to investigate the frequency of decreased areal bone mineral density (aBMD) among patients with cerebral palsy (CP), as estimated by using various aBMD Z-score adjustment methods. In addition, this study examined factors related to decreased aBMD scores. One hundred and two children between the ages of 3.2 and 17.8 years were examined. In patients with severe CP, the incidences of decreased aBMD according to various adjusting methods based on decimal age, bone age, height age, and height-for-age Z-score (HAZ) were 79.5%, 69.5%, 51.9%, and 38.3%, respectively. Abnormal levels of calcium, phosphorus, alkaline phosphatase, parathyroid hormone, or anticonvulsant were not predictive for a decreased aBMD. Mean aBMD Z-scores were significantly lower in all aBMD Z-score adjustment methods in patients with severe CP compared to patients with mild-to-moderate CP, except for the adjustment method based on HAZ.

Prasad's syndrome is characterized by geophagia, growth retardation, hypogonadism, and zinc deficiency. We report a 15-year-old boy whose medical history and clinical and laboratory findings were fully compatible with Prasad's syndrome. In addition to severe growth retardation and pubertal delay, iron deficiency anemia and zinc deficiency were determined. His gliadin and endomysium antibodies were negative. The thyroid hormone levels were in normal range but basal gonadotropins and testosterone levels were low for his age. Detailed endocrinological evaluation revealed growth hormone deficiency and hypogonadotropic hypogonadism. Pituitary gland magnetic resonance imaging revealed pituitary hypoplasia. In our opinion, before the diagnosis of Prasad's syndrome, endocrine evaluation should be done in these patients and hypopituitarism should be ruled out. Hypogonadotropic hypogonadism and growth hormone deficiency may be masked by Prasad's syndrome.

Diazoxide is the main therapeutic agent for persistent hyperinsulinemic hypoglycemia. Generally, it is tolerated well, but rarely it can cause severe life-threatening complications. We report a neonate who was treated with diazoxide for hyperinsulinemic hypoglycemia. On the 6th day of the treatment we observed sepsis-mimicking symptoms, mild pulmonary hypertension, and re-opening of the ductus arteriosus. All these findings resolved dramatically shortly after discontinuation of treatment. To our knowledge, this is the first reported case of re-opening of the ductus arteriosus due to diazoxide toxicity.

In children with untreated hypothyroidism, the onset of puberty is usually delayed, but gonadotropin-independent precocious puberty may occur in children with severe hypothyroidism of long duration. The association of hypothyroidism, delayed bone age and gonadotropin-independent precocious puberty is defined as Van Wyk Grumbach syndrome (VWGS). VWGS has been described mostly in girls, and only seldom in boys. The manifestation of VWGS in boys is only testicular enlargement without substantial Leydig cell stimulation or testosterone secretion. We report a case of testicular enlargement due to obvious hypothyroidism secondary to autoimmune thyroiditis in a boy who presented with obesity. With this case report, we would like to emphasize that VWGS is not a real gonadotropin- independent precocious puberty in boys as it is in girls. Additionally, we would like to emphasize that delayed bone age is a special discriminating feature for differentiation of VWGS from the other causes of precocious puberty.

Infantile malignant osteopetrosis is a rare and genetically autosomal recessive disease characterized by osteoclast malfunction. Decreased osteoclast-mediated bone resorption may be inadequate to maintain a normal serum calcium-phosphorus balance in the extracellular fluid. Consequently, despite markedly positive total body calcium balance, patients with osteopetrosis paradoxically could develop rickets. The concurrence of osteopetrosis and rickets has been termed "osteopetrorickets". We report here a 3-month-old boy who was diagnosed with osteopetrorickets with clinical features. Although osteopetrorickets is defined as a rare paradoxical feature of infantile malignant osteopetrosis in some studies, it seems to be more common than was previously known. Coexistence of rickets and osteopetrosis may have adverse effects on clinical response to stem cell transplantation. Therefore, a diagnosis of rickets must be considered in patients with osteopetrosis and then for better results, prior to the SCT, the rickets should be completely treated.

Dystonia is a movement disorder that causes involuntary contractions of the muscles. Dystonia can affect just 1 muscle, a group of muscles, or all of the muscles. The most common cause acquired dystonia in childhood is drugs. Cetirizine is widely used for allergic disorders in childhood. It is without central nervous system side effects at recommended dosages. There is only 1 case of cetirizine-induced dystonia in the literature. We report a second case of cetirizine-induced acute acquired dystonia whose symptoms completely resolved after the discontinuation of the drug.

Pubertal delay may be due to underlying chronic diseases and primary endocrine diseases. Celiac disease, one of the common malabsorption disorders of childhood, may progress silently in some cases, and the cases diagnosed late present with growth failure or disturbance of pubertal development. Currently, due to the changing face of celiac disease, patients are being diagnosed in adolescence with atypical symptoms and findings. This study describes 2 patients aged 13 and 16 years who presented with pubertal delay and who were diagnosed with celiac disease, concluding that routine screening of celiac disease in the differential diagnosis of delayed puberty should be recommended.

A 3-month-old female infant presented with swelling of the external genitalia. She had been born prematurely, at 27 weeks of gestation. After discharge, her mother noted the gradual development of genital swelling. Ultrasonography of the abdomen revealed two cysts on the right ovary.