Oculo-auriculo-vertebral spectrum and frontonasal dysplasia are two well-known examples of dysmorphology syndromes. Oculoauriculofrontonasal syndrome (OAFNS) is a clinical entity involving the characteristics of both OAVS and FND and is thought to be a result of the abnormal development of structures in the first and the second branchial arches, including the abnormal morphogenesis of maxillary processes. Herein we report a case of OAFNS with cliteral hypertrophy, premaxillary teeth, and inguinal hernia, features not previously reported in the literature.

Objective: Childhood obesity is a worldwide health concern. Studies have shown autonomic dysfunction in obese children. The exact mechanism of this dysfunction is still unknown. The aim of this study was to assess the relationship between erythrocyte membrane fatty acid (EMFA) levels and cardiac autonomic function in obese children using heart rate variability (HRV). Methods: A total of 48 obese and 32 healthy children were included in this case-control study. Anthropometric and biochemical data, HRV indices, and EMFA levels in both groups were compared statistically. Results: HRV parameters including standard deviation of normal-to-normal R-R intervals (NN), root mean square of successive differences, the number of pairs of successive NNs that differ by >50 ms (NN50), the proportion of NN50 divided by the total number of NNs, high-frequency power, and low-frequency power were lower in obese children compared to controls, implying parasympathetic impairment. Eicosapentaenoic acid and docosahexaenoic acid levels were lower in the obese group (p<0.001 and p=0.012, respectively). In correlation analysis, in the obese group, body mass index standard deviation and linoleic acid, arachidonic acid, triglycerides, and high-density lipoprotein levels showed a linear correlation with one or more HRV parameter, and age, eicosapentaenoic acid, and systolic and diastolic blood pressure correlated with mean heart rate. In linear regression analysis, age, dihomo-gamma-linolenic acid, linoleic acid, arachidonic acid, body mass index standard deviation, systolic blood pressure, triglycerides, low-density lipoprotein and high-density lipoprotein were related to HRV parameters, implying an effect on cardiac autonomic function. Conclusion: There is impairment of cardiac autonomic function in obese children. It appears that levels of EMFAs such as linoleic acid, arachidonic acid and dihomo-gamma-linolenic acid play a role in the regulation of cardiac autonomic function in obese children. Resumo: Objetivos: A obesidade infantil constitui um problema de saúde a nível mundial. Alguns estudos têm demonstrado a presença de disfunção autonómica em crianças obesas. O mecanismo exato desta disfunção é ainda desconhecido. O objetivo deste estudo foi avaliar a relação entre os níveis dos ácidos gordos da membrana eritrocitária (AGME) e as funções autonómicas cardíacas nas crianças obesas, através do uso da variabilidade da frequência cardíaca (VFC). Métodos: Um total de 48 crianças obesas e de 32 crianças saudáveis foram incluídas neste estudo de caso-controlo. Dados antropométricos e bioquímicos, índices de VFC e níveis de AGME em ambos os grupos foram estatisticamente comparados. Resultados: Nas crianças obesas os parâmetros da VFC, que incluíam um desvio standard do intervalo normal-a-normal (NN), a diferença sucessiva do valor quadrático médio, o número de pares de NN sucessivos que diferem mais de cerca de 50 ms (NN50), a proporção de NN50 divididos pelo número total de NN, a potência de alta frequência e a potência de baixa frequência foram inferiores quando comparados com os do controlo, significando uma deficiência/insuficiência parassimpática. O ácido eicosapentaenoico e o ácido docosahexaenoico foram inferiores no grupo de crianças obesas (p < 0,001 e p = 0,012, respetivamente). Na análise de correlação do grupo obeso, o ácido linoleico, o ácido araquidónico, o desvio standard do índice da massa corporal, os triglicéridos, a lipoproteína de alta densidade mostraram uma correlação linear com parâmetros ≥ 1 da VFC e a idade, o ácido eicosapentaenoico, a pressão arterial sistólica e diastólica tiveram uma correlação com a frequência cardíaca média. Na análise da regressão linear, a idade, o ácido dihomo gama-linolénico, o ácido linoleico, o ácido araquidónico, o desvio standard do índice da massa corporal, a pressão arterial sistólica, os triglicéridos, as lipoproteínas de baixa e de alta densidades tiveram um efeito nos parâmetros de VFC implicando as funções autonómicas cardíacas. Conclusão: Há uma insuficiência das funções autonómicas cardíacas nas crianças obesas. Parece que os níveis de AGME, tais como o ácido linoleico, o ácido araquidónico e o ácido dihomo gama-linolénico contribuem para a regulação das funções autonómicas cardíacas nas crianças obesas. Keywords: Heart rate, Fatty acid, Obesity, Child, Omega-3 fatty acids, Palavras-chave: Frequência cardíaca, Ácidos gordos, Obesidade, Criança, Ácidos gordos ómega 3

Searchable abstracts of presentations at key conferences in endocrinology ISSN 1470-3947 (print) | ISSN 1479-6848 (online)

OBJECTIVE:Noonan syndrome (NS) is a multisystem disorder, and short stature is its most striking manifestation. Optimal growth hormone (GH) treatment for NS is still controversial. In this study, using a nationwide registration system, we aimed to evaluate the growth characteristics and the clinical features of NS patients in Turkey and their growth response to GH treatment.METHODS:Children and adolescents with a diagnosis of NS were included inthe study. Laboratory assessment including standard GH stimulation test results were evaluated. Height increment of patients with or without GH treatment were analyzed after three years of therapy.RESULTS:A total of 124 NS patients from different centers were entered in the web-based system. Short stature and typical face appearance were the most frequently encountered diagnostic features of our patients. Of the 84 patients who were followed long-term, 47 hadreceived recombinant human GH (rhGH). In this group of 47 patients, height standard deviation score (HSDS) increased from -3.62±1.14 to -2.85±0.96 after three years of therapy, indicating significant differences from the patients who did not receive GH treatment. PTPN11 gene was analyzed in 61 patients, and 64% of these patients were found to have a mutation. HSDS at admission was similar in patients with or without PTPN11 gene mutation.CONCLUSION:A diagnosis of NS should be kept in mind in all patients with short stature showing systemic clinical findings. GH therapy is effective for improvement of short stature especially in the first two years of treatment. Further studies are needed for optimisation of GH therapy and evaluation of final height data in NS patients.

Objectives: Alström Syndrome (ALMS), occured due to mutations in ALMS1 gene, is a rare otosomal ressesive disorder. 700 cases have been reported so far. Main clinical findings are rod con dystrofy, neurosensorial deafness, obesity and type 2 diabetes. Hypogonadism, hypothyroidism, growth hormone deficiency, hipertryglyceridemia, cognitive dysfunction, cardiomyopathy, renal, hepatic and pulmoner disorders could also be seen. Herein, we report a patient with ALMS who experienced both type 2 diabetes and hepatic disorder.

Hyperinsulinism, one of the most important causes of hypoglycaemia, can be congenital or acquired. Rarely, drug toxicity can be a reason for hyperinsulinism. In the context of Munchausen syndrome by proxy (MSP), toxicity usually occurs in children due to drug administration by a parent or caregiver. A 7-year-old girl was referred to our department due to a hyperglycaemic period and hypoglycaemic episodes. On admission, gliclazide was initiated due to her hyperglycaemia, which we attributed to maturity onset diabetes of the young. However, during follow-up, hypoglycaemic levels were detected. Despite cessation of gliclazide, hypoglycaemic seizures occurred. Even with the medications administered, hypoglycaemia could not be prevented. During follow-up, the mother's affect, characterized by anxiety and interest in her daughter's medical care, appeared discordant with the situation. Due to our suspicion of MSP, we discovered toxic levels of gliclazide in the blood and urine samples which had been sent to the toxicology laboratory to search for hypoglycaemic agents. The patient was isolated, and all medications were stopped. After isolation, her hypoglycaemia disappeared, and she became hyperglycaemic (250 mg/dl). Physicians should consider the possibility of MSP in hyperinsulinaemic patients with discordant laboratory results and clinical symptoms, even if the child's parents display great concern.

Background: Obesity is a well-established risk factor for asthma. Previous studies have reported that central obesity is associated with asthma.Objective: To investigate the association between fat distribution, which is determined by anthropometric measures, including neck circumference (NC), and asthma in school-aged children.Methods: Children diagnosed as having asthma were enrolled along with controls who were admitted to our outpatient department with allergic symptoms, such as rhinitis, urticaria and atopic dermatitis. Anthropometric measures, including height, weight, NC, waist circumference, and hip circumference, were obtained. Skin prick tests, blood eosinophil counts, and serum total IgE level measurements were performed.Results: A total of 196 children (92 male [46.9%]) were included. Asthma was present in 102 patients (52.1%). Ninety-one of the patients (46.4%) were overweight, and 45 patients (22.9%) were obese. The NC of children with asthma was significantly higher than that of children in the control group. Grades defined according to NC percentiles were also significantly different between groups. In children with asthma, the prevalence of children with an NC higher than the 90th percentile (grade 6) was more frequent when compared with controls. The median NC of obese-overweight children with asthma was significantly higher compared with obese-overweight controls without asthma. Results of multivariable logistic regression analysis revealed that the presence of an NC in the greater than 90th percentile was associated with asthma in obese-overweight children.Conclusion: This study found that NC, which is a simple anthropometric measure, is associated with asthma in obese children. (C) 2016 American College of Allergy, Asthma & Immunology. Published by Elsevier Inc. All rights reserved.

Congenital adrenal hyperplasia (CAH) is an autosomal recessive disease causing gender differentation disorder. 21-Hydroxylase deficiency comprises more than 90% of patients and leads to cortisol deficiency. Cortisol deficiency causes life threatining adrenal failure. The diagnosis could be missed and the disease may cause to death especially in male neonate and girls with virilised severely. After the CAH diagnosis, the management of disease is possible both medical and surgical. Therefore neonatal CAH screening program is performed in many developed countries. Both male and female infant death can be prevented as well as early medical/surgical intervention correct the problems without grow-up. Europe and American Societies of Pediatric Endocrinology recommend the neonatal CAH screening. Because of all these reason neonatal CAH screening is important and necessary in our country that has high prevalence of consanguineous marriage.

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 < 0.001). The mean birth length was 1.3 cm shorter and mean birth weight was 0.36 kg lower than that of the normal population. The mean age at diagnosis was 10.1 ± 4.4 years. Mean height, weight and body mass index standard deviation scores at presentation were −3.1 ± 1.7, −1.4 ± 1.5, and 0.4 ± 1.7, respectively. Patients with isochromosome Xq were significantly heavier than those with other karyotype groups (P = 0.007). Age at presentation was negatively correlated and mid‐parental height was positively correlated with height at presentation. Mid‐parental height and age at presentation were the only parameters that were associated with height of children with TS. The frequency of SGA birth was found higher in preterm than term neonates but the mechanism could not be clarified. We found no effect of karyotype on height of girls with TS, whereas weight was greater in 46,X,i(Xq) and 45,X/46,X,i(Xq) karyotype groups. © 2016 Wiley Periodicals, Inc.

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 café-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.

AIMS:The aim of our study is to investigate alterations in visual evoked potentials (VEP) and brainstem auditory evoked potentials (BAEP) in children with obesity. METHODS:A total of 96 children, with a mean age of 12.1±2.0 years (range 9-17 years, 63 obese and 33 age and sex-matched control subjects) were included in the study. Laboratory tests were performed to detect insulin resistance (IR) and dyslipidemia. The latencies and amplitudes of VEP and BAEP were measured in healthy and obese subjects. RESULTS:The VEP P100, BAEP interpeak latency (IPL) I-III and IPL I-V averages of obese children were significantly longer than the control subjects. When the obese group was divided into two subgroups, those with IR and without IR, BAEP wave I, wave III and P100 wave latencies were found to be longer in the group with IR. A statistically significant correlation was observed between BAEP wave I latency, IPL I-V, IPL I-III and the homeostatic model assessment insulin resistance (HOMA IR) index and fasting insulin level. CONCLUSIONS:Our findings suggest that VEP and BAEP can be used to determine early subclinical on auditory and visual functions of obese children with insulin resistance.

Objective: Studies have demonstrated a significant relationship between maternal fructose intake and metabolic outcome in their offspring. However, there is a paucity of data about the long-term effects of fructose intake on the offspring of fructose-fed dams. Therefore, we planned a study to evaluate the long-term effects of fructose intake on the offspring of dam rats fed a high-fructose diet. Methods: Sixteen virgin female Sprague-Dawley rats were divided into two groups. Group 1 received a regular diet and Group 2 a high-fructose diet. Both groups received their experimental diets for 8 weeks before conception. They were mated and continued to feed with their experimental diet during mating and during their pregnancy and lactation periods. After weaning, the offspring from each group were divided into two groups. Group 1A received a regular diet, Group 1B - a fructose diet, Group 2A - a regular diet and Group 2B received a fructose diet. After weaning, the offspring were anesthetized and blood samples were collected for biochemical analysis. Liver, kidney and retroperitoneal adipose tissue were harvested for histopathological examination. Primary antibodies against inducible nitric oxide synthase (iNOS) and cyclooxygenase-2 (COX-2) were determined as early inflammation markers. Results: After weaning, while daily water consumption was found to be significantly higher in Groups 2B and 1B (p<0.01), daily laboratory chow consumption was significantly lower in Groups 1A and 2A (p<0.01). Body weight was significantly higher in Groups 1B and 2B (p<0.01). Serum glucose, triglyceride, low-density lipoprotein cholesterol and very low-density lipoprotein cholesterol levels were found to be increased and high-density lipoprotein cholesterol levels decreased in Group 2B (p<0.05). The intensities of iNOS staining in the retroperitoneal adipose tissue, COX-2 staining in the liver and both iNOS and COX-2 staining in the kidney were higher in Group 2B (p<0.05). Conclusion: Based on our findings, we believe that the offspring of dams which received a high fructose intake during their pregestation, gestation and lactation periods are at risk of developing metabolic syndrome in their later life only if they continue to receive a high intake of fructose. We therefore propose that the risk of developing metabolic syndrome can probably be reduced by modifying the diet of the offspring after weaning.

Objective: Neonatal sepsis remains a major cause of morbidity and mortality in newborns. The chemokine CXCL12 and its receptor CXCR4 are now known to play an important role in inflammatory states. However, it is unclear how chemokines respond to late-onset neonatal sepsis.Methods: Patients were classified into the groups of septic and non-septic ones. Samples of venous blood were obtained from all septic and non-septic newborns at the beginning and within 48-72 h after initiation of treatment. Serum levels of CXCR4 and CXCL12 were measured.Results: Concentrations of IL-6, CXCR4 and CXCL12 at the time of diagnosis were significantly higher in the septic neonates compared with the non-septic ones. Additionally, there were statistically significant differences in septic neonates between the first and the second levels of IL-6, CXCR4, CXCL12 and I/T ratio. ROC curve analyses revealed that IL-6, CXCR4, CXCL12 and I/T ratio resulted in significant AUC with respect to early identification of septic neonates. Univariate logistic regression analysis showed that increased IL-6, CXCR4 and CXCL12 were strong predictors of neonatal LOS.Conclusions: Serum CXCR4 and CXCL12 levels increase in septic neonates and that both chemokines decrease within 48-72 h of treatment. Serum concentrations of both chemokines represent promising novel biomarkers for neonatal sepsis.

Gonadotropin-releasing hormone analogues are generally regarded as safe drugs. Gonadorelin acetate has been widely used for the diagnosis of central precocious puberty, and life-threatening reactions to gonadorelin acetate are extremely rare. Herein, we described - to the best of our knowledge - the first pediatric case in which severe anaphylaxis was encountered after intravenous gonadorelin acetate administration. An 8-year-old girl who was diagnosed with central precocious puberty was receiving triptorelin acetate treatment uneventfully for 6 months. In order to evaluate the efficacy of the treatment, an LH-RH stimulation test with gonadorelin acetate was planned. Within 3 min after intravenous administration of gonadorelin acetate, she lost consciousness and tonic seizures began in her hands and feet. She was immediately treated with epinephrine, diphenhydramine, and fluids. Her vital signs recovered within 30 min. Based on the results, anaphylaxis should be anticipated and the administration of these drugs should be performed in a setting that is equipped to deal with systemic reactions.

Allogeneic hematopoietic stem cell transplantation (allo-HSCT) has the potention to provide curative therapy for selected benign and malignant disorders. In patients undergoing allo-HSCT in childhood, long term side effects are increased as with the prolonged survival time. Fifty-one patients underwent allo-HSCT between 2001-2014 and survived for at least two years were enrolled in this study. Clinical evaluation with detailed physical examination and required laboratory tests were done routinely to determine long term side effects. Mean follow-up period after allo-HSCT was 68.3±31.4 months (range: 24-141 months), patients’ age average was 9.3 ± 4.9 years (range: 6 moths-17 years), 56.9% of them were male, and 92.2 % (n= 47) of donors were match family donors. We determined long term side effects in 56.8% of patients. Most of the long term side effects were endocrine complications with 17.6%. Oculary long term side effects were found in 15.7% and associated with haploidentical and match unrelated donor (MUD) transplantations (p= 0.002). We found that chronic graft versus host disease (GVHD) rate was increased with MUD transplantation (p=0.003) and acute liver GVHD (p= 0.002). Osteoporosis frequency was positively correlated with follow-up time (p= 0.002) and found much more in malign disorders than benign ones (p=0.002). Osteoporosis was rarely found in conditioning regimens included cyclophosphamide (p= 0.004). Long-term side effect risk was higher in patients underwent allo-HSCT in older age (p= 0.003). Patients need to be monitored routinely for a long time after allo-HSCT. Haploidentical and MUD transplantation increase long term side effects. Future wide-spread studies are necessary to determine long term side effects of allo-HSCT-received children.