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Abstract: Conducting cognitive assessment tests throughout normal daily life offers new opportunities to early detect changes in cognitive efficiency. Such tests would allow identification of early symptoms of cognitive impairment, monitor the progress of disease processes related to cognitive efficiency and reduce the risk of cognitive overload. Reaction time tests are known as simple and sensitive tests for detecting variation in cognitive efficiency. A drawback of existing reaction time tests is that they require the full attention of a test person, which prohibits the measurement of cognitive efficiency during daily routine tasks. In this contribution we present the design, implementation and empirical evaluation of two wearable reaction time tests that can be operated throughout everyday life. We designed and implemented wearable watch-like devices, which combine the generation of haptic stimuli and the recognition of hand gestures as the subject’s response. For the evaluation of the wearable interface, we conducted a user study with 20 subjects to investigate to what extent we can measure changes in length and variability of user’s reaction time with the wearable interfaces in comparison to well accepted, traditional desktop-based tests. Based on the achieved statistical results, we conclude that the presented wearable reaction time tests are suitable to measure factors that influence length and variability of reaction times. [Copyright &y& Elsevier]

Objective: To investigate vitamin D status in children with Hashimoto thyroiditis. Subjects and methods: The study group consisted of 78 children recently diagnosed as Hashimoto thyroiditis and 74 subjects as the control group. Parameters of calcium metabolism, thyroid function tests, and 25-hydroxyvitamin D [25(OH)D] levels were measured. Results: Vitamin D deficiency rate was significantly higher in the Hashimoto group compared with the control subjects (73.1% vs. 17.6%, p<0.0001). In the Hashimoto group, mean 25(OH)D levels were significantly lower compared with the control group (31.2±11.5 vs. 57.9±19.7 nmol/L, p<0.001) and was inversely correlated with the anti-thyroid peroxidase (anti-TPO) levels (r=-0.30, p=0.007). Conclusion: The higher vitamin D deficiency rates besides lower vitamin D levels in the Hashimoto group together with the inverse correlation between vitamin D and anti-TPO suggest that vitamin D deficiency may have a role in the autoimmune process in Hashimoto thyroiditis in children. [ABSTRACT FROM AUTHOR]

Abstract: Purpose: The aim of this study was to investigate whether oxcarbazepine (OXC) monotherapy causes weight gain in epileptic children. Methods: A total of 22 children with epilepsy (age 3.0–16.4 years) were assigned to OXC therapy. Serum levels of glucose, insulin, cortisol, leptin, neuropeptide Y (NPY), galanin and ghrelin were assessed before OXC therapy (month 0) and after the 6th and 18th months. Results: There was no statistically significant difference in weight–standard deviation score (SDS), Height–SDS, BMI–SDS, serum glucose, insulin, cortisol, leptin, NPY, galanin and ghrelin levels between initial values (month 0) and those in the 6th and 18th months after OXC therapy (p > 0.05). Conclusions: Our results indicate that OXC therapy causes neither weight change nor alterations in serum glucose, insulin, cortisol, leptin, NPY, galanin and ghrelin levels in children with epilepsy. [Copyright &y& Elsevier]

Summary: Objective: Insulin like growth factor 1 (IGF-1) is recognized as a potent mitogen for many cancer cell lines and there is good evidence that lung cancer cells produce both IGF-1 and insulin like growth factor binding protein 3 (IGFBP-3). The aim of this study was to investigate the clinical significance of IGF-1 and IGFBP-3 levels in serum and in bronchoalveolar lavage (BAL) fluid by comparing lung cancer patients with healthy controls. Methods: BAL fluid and serum samples were obtained from 24 lung cancer patients and 12 healthy controls, and were analyzed for IGF-1 and IGFBP-3 levels by a two site immunoradiometric assay. The recovered BAL fluid was standardized by albumin to remove the variable of dilution and the data was expressed in epithelial lining fluid (ELF). Results: Serum IGF-1 and IGFBP-3 levels were lower in lung cancer patients, but the difference between the groups did not reach a statistical significance. IGF-1/IGFBP-3 ratio in ELF was significantly lower in lung cancer patients (). Mean IGF-1 level in ELF was determined to be significantly lower in patients with distant metastasis (). Serum IGF-1/IGFBP-3 ratio was found to be significantly lower in patients with distant () and nodal metastasis (). Tumor stage was negatively correlated with IGF-1 level in ELF ( ) and serum IGF-1/IGFBP-3 ratio ( ). Conclusion: IGF-1 and IGFBP-3 levels both in serum and ELF might serve a clinical significance in patients with lung cancer. However, further studies comprising more cases are needed to investigate the cIinical significance of IGF-1 and IGFBP-3 in lung cancer. [Copyright &y& Elsevier]

Comments on the relationship between feeding and hormone leptin levels of infants. Importance of leptin in energy balance and neuroendocrine function; Effect of short-term fasting and feeding in infancy on leptin; Role of body fat mass and plasma insulin levels on leptin levels.

ABSTRACT Objective To determine whether first-voided urinary LH (FV-ULH) – level measurement can adequately assess pubertal suppression as much as standard tests can. Subjects and methods The study group included patients with central precocious puberty and rapidly progressing early puberty who received up to 3 – 4 doses of GnRHa therapy monthly and did not have adequate hormonal suppression after GnRH stimulation (90-minute LH level > 4 IU/L). Design: All of the participants underwent an LHRH test just after admission to the study. According to the stimulated peak LH levels, the patients were divided into 2 groups and followed until the end of the first year of treatment. The concordance between FV-ULH and stimulated LH levels was assessed. Results The FV-ULH levels in patients with inadequate hormonal suppression were significantly high compared to patients with adequate hormonal suppression. FV-ULH levels were very strongly correlated with stimulated LH levels (r = 0.91). Its correlation with basal LH levels was significant (r = 0.65). However, this positive correlation was modestly weakened after the first year of treatment. The cutoff value for FV-ULH of 1.01 mIU/mL had the highest sensitivity (92.3%) and specificity (100%). Conclusion FV-ULH levels, using more reliable and sensitive assay methods, can be used to monitor the adequacy of GnRHa therapy.

Aims: This study aimed to investigate whether supplemental soluble fiber, oat β-glucan, has any effect on glycemic control and variability of adolescents with type 1 diabetes mellitus., Methods: This study was conducted in 30 adolescents with type 1 diabetes mellitus and it consisted of three phases lasting one week. At Phase I, all subjects followed a standard diet program. For Phase II and Phase III, the subjects continued their standard diet program and added natural oat flakes containing 3 g/day and 6 g/day β-glucan, respectively. Glucose levels were monitored by continuous glucose monitoring (CGM). The maximal, minimal, mean and daytime and night blood glucose levels, percentages of glucose values in a target range and below and above a target values were calculated for each of the phases. Premeal, postmeal, peak blood glucose values and peak times of meals were evaluated for each of the phases. Glycemic variability was measured via SD, CV, MAGE, IQR, MODD, LBGI, HBGI, and CONGA parameters., Results: The maximal, mean and daytime and night blood glucose levels were the lowest at Phase III (p < 0.05). Minimal blood glucose levels were the highest at Phase III (p < 0.05). Phase I, II, and III showed similar durations elapsed for Level 2 and Level 1 hypoglycemia, euglycemia, Level 1 and Level 2 hyperglycemia (p > 0.05). Premeal and postmeal blood glucose levels were lowest at Phase III for breakfast, lunch, and overall (p < 0.05). The lowest peak blood glucose levels were detected at Phase III for breakfast, lunch, dinner and overall (p < 0.05). Phase III also showed delayed peaks for all time-points (p < 0.05 for each) compared to other phases. Phase III had significantly lower levels of SD, CV, LBGI, and CONGA levels than those in either Phase I or Phase II (p < 0.05 for each)., Conclusion: 6 g/day oat β-glucan have favorable outcomes in glycemic control and variability in adolescents with type 1 diabetes mellitus., Competing Interests: Declaration of Competing Interest The authors declare no conflict of interest., (Copyright © 2020 Elsevier B.V. All rights reserved.)

Objective To determine whether first-voided urinary LH (FV-ULH) - level measurement can adequately assess pubertal suppression as much as standard tests can. Subjects and methods The study group included patients with central precocious puberty and rapidly progressing early puberty who received up to 3 - 4 doses of GnRHa therapy monthly and did not have adequate hormonal suppression after GnRH stimulation (90-minute LH level > 4 IU/L). Design: All of the participants underwent an LHRH test just after admission to the study. According to the stimulated peak LH levels, the patients were divided into 2 groups and followed until the end of the first year of treatment. The concordance between FV-ULH and stimulated LH levels was assessed. Results The FV-ULH levels in patients with inadequate hormonal suppression were significantly high compared to patients with adequate hormonal suppression. FV-ULH levels were very strongly correlated with stimulated LH levels (r = 0.91). Its correlation with basal LH levels was significant (r = 0.65). However, this positive correlation was modestly weakened after the first year of treatment. The cutoff value for FV-ULH of 1.01 mIU/mL had the highest sensitivity (92.3%) and specificity (100%). Conclusion FV-ULH levels, using more reliable and sensitive assay methods, can be used to monitor the adequacy of GnRHa therapy.

Objective: A close diabetes team-patient relationship is required for establishing satisfactory metabolic control. The purpose of this study was to investigate the effect of a telehealth system on diabetes control., Methods: The study was carried out between June 2015 and January 2016 at the Gazi University Faculty of Medicine, Pediatric Endocrinology Department. The telehealth system was developed by the diabetes team. The demographic characteristics, frequency of use and hemoglobin A1c (HbA1c) changes of type 1 diabetic (T1DM) patients using this communication network were analysed., Results: Eighty two patients [43 (52.4%) females, mean (±standard deviation) age 10.89±4 years] used the telehealth system. Fourteen (17.1%) of the cases were on pump therapy and 59 (72.0%) were counting carbohydrates. The individuals with diabetes or their families preferred WhatsApp communication. Whatsapp provided a means for instant messaging in most instances (57.3%), contact with diabetes education nurse (32.9%) and consultation with the diabetes team about insulin doses and blood glucose regulation (42.7%). HbA1c values after six months were significantly lower in patients/parents calling frequently (p<0.001) compared with HbA1c values recorded at the beginning of the study., Conclusion: Increase in frequency of counselling by the diabetes team led to improved blood glucose control in T1DM patients. A telehealth system is useful for early detection of the need for changes in treatment and for intervention. It also promoted better self care.

Background: Vitamin D, an important factor in calcium-phosphate homeostasis, has recently been suggested to play an important role in the pathogenesis of numerous chronic conditions such as hyperandrogenism. The aim of this study was to investigate the relationship between vitamin D status and premature adrenarche (PA)., Methods: A total of 71 girls with PA and 52 healthy girls, as the control group, were recruited. Axillary and/or pubic hair development before the age of 8 years was defined as PA. Bone age and anthropometric measures including height, weight, and body mass index (BMI) were obtained. 25-Hydroxyvitamin D (25(OH)D), fasting plasma glucose and insulin were measured. Vitamin D insufficiency was defined as <20 ng/mL., Results: The PA patients had older bone age, higher BMI standard deviation score, homeostasis model of assessment-insulin resistance (HOMA-IR), and androgen but lower 25(OH)D than the control group. HOMA-IR and dehydroepiandrosterone sulfate were also higher in PA patients with vitamin D insufficiency compared with those with normal vitamin D. There was a negative correlation between 25(OH)D and HOMA-IR., Conclusion: Low vitamin D is associated with PA; and insulin resistance may be a factor in this association., (© 2018 Japan Pediatric Society.)

Objectives: Iron deficiency is common in obese children although the underlying mechanism is unclear. The aim of this study was to investigate the associations between iron parameters, leptin, hepcidin and adiponectin levels in obese children., Methods: A total of 237 children, ranging in age from 5 to 18 years, 180 with primary obesity and 57 healthy children and adolescents, were enrolled. Complete blood count, serum iron levels, iron-binding capacity, ferritin levels, leptin, hepcidin and adiponectin levels were studied., Results: White blood cell and platelet count, iron-binding capacity, high-sensitive C-reactive protein, leptin and hepcidin values in the obese group were higher than those of the control group (p < 0.001, p = 0.002, p < 0.001, p < 0.001, p < 0.001 and p < 0.001, respectively). However, mean corpuscular volume, adiponectin and transferrin saturation values in the obese group were lower than in the control group (p = 0.026, p = 0.003, and p < 0.001, respectively). No significant differences were found in terms of hemoglobin, serum ferritin, iron and IL-6 levels., Conclusions: Our study suggests that hepcidin levels do not contribute to the development of iron deficiency anemia in pediatric obese individuals.

Background/aim: Various studies have shown that adult patients with polycystic ovary syndrome (PCOS) have higher levels of anxiety and depression compared to their normal counterparts. However, it is still unclear whether these mood disorders already exist in adolescents affected by PCOS. The aim of the present study is to assess differences in anxiety and depression levels between adolescents with PCOS and age- and body mass index (BMI)-matched controls and to determine the possible factor(s) impacting these psychological parameters in adolescents with PCOS. Materials and methods: The study included 80 adolescents with PCOS and 50 age- and BMI-matched controls. All participants completed standardized questionnaires assessing anxiety and depression. A multiple linear regression model was used to analyze the impact of potential variables on anxiety and depression scores of the adolescents with PCOS. Results: Significantly higher levels of anxiety, specifically generalized and social anxieties, as well as depression were found in adolescents with PCOS compared to controls. Higher BMI was found to be associated with higher levels of depression and generalized anxiety, and higher modified Ferriman-Gallwey score with higher level of panic disorder in adolescents affected by PCOS. Conclusion: Adolescents with PCOS experience significantly more emotional distress compared to adolescents without PCOS. This emotional distress may be related, at least in part, to certain clinical features of PCOS including obesity and hirsutism. PCOS in adolescents should be assessed not only for the gynecological and metabolic aspects but also for the emotional aspects of the disease.

Objective: To evaluate neural and vascular retinal morphology of children with isolated growth hormone deficiency (GHD) and to determine any retinal changes due to GH treatment., Methods: Twenty-eight children with isolated GHD and 53 age-, gender- and body mass index-matched healthy volunteers were enrolled in this prospective study. The retinal nerve fibre layer (RNFL) and macular thickness (MT) were measured, as well as intraocular pressure (IOP). The number of retinal vascular branching points were calculated. Effect of GH treatment on the retina and IOP was evaluated after one year of treatment. Measurements were also made in the control group at baseline and following the initial examination. Pre- and post-treatment changes were compared. The findings were also compared with those of the controls. The correlation between ocular dimensions and insulin-like growth factor-I (IGF-1) levels were also analysed., Results: The number of branching points was significantly lower in GHD patients as compared with control subjects (15.11±2.67 and 19.70±3.37, respectively, p=0.05 for all comparisons). No statistically significant differences were found in mean RNFL, MT and IOP values between GHD patients and control subjects. GH treatment did not create any significant changes in the retinal vascularization or other retinal neural parameters and IOP either within the patient group or when compared with the control group. No correlations were observed between ocular dimensions and IGF-1 levels., Conclusion: Our findings suggest that isolated GHD may lead to decreased retinal vascularization. However, retinal neural growth and differentiation were not affected by GHD. These findings may be related to the fetal development process of pituitary somatotropic cells and the retina. Additionally, GH treatment did not cause any changes in retinal neural and vascular tissues.

Background/aim: The aim of this study was to investigate the prevalence of the microdeletions and mutations of the SHOX gene in children with idiopathic short stature (ISS) by the usage of fluorescence in situ hybridization (FISH) and direct sequencing technique. Materials and methods: Thirty-seven children referred to our clinic because of short stature were classified as having ISS after clinical examination. Chromosome analyses, FISH analysis of the SHOX gene, and direct sequencing of the coding exons of SHOX , through the second to the sixth exon, in 24 of the 37 patients were also performed. Results: All children had normal karyotypes and the SHOX gene region was found to be intact in all. No mutation was detected in the exonic sequences and exon/intron boundaries of the SHOX gene in 24 children analyzed. Conclusion: No mutation was detected in the exonic sequences and exon/intron boundaries of the SHOX gene and this indicated that the prevalence of the SHOX mutations can differ according to the selection criteria, used methods, sample size, and population.

Objective: Although polymorphisms in suppressor of cytokine signaling 3 (SOCS3) was reported to be related to obesity, Metabolic syndrome (MS), and type 2 diabetes mellitus in various adult studies, there is a lack of data in children. In this study, we examined eight reported polymorphisms of SOCS3 in obese Turkish children and adolescent with and without MS and compared the results with that of controls., Methods: One hundred and forty eight obese and 63 age- and sex-matched control subjects were enrolled in the study. Obesity classification was carried out according to body mass index. World Health Organization and National Cholesterol Education Program criteria were used for the diagnosis of MS. Genotyping procedure was carried out by polymerase chain reaction and Sanger sequencing protocol., Results: The frequency of rs2280148 polymorphism was significantly higher in obese subjects with MS than in the control group, whereas the frequency of rs8064821 polymorphism was significantly higher in obese subjects with MS than in obese children without MS., Conclusion: The significant associations of certain SOCS3 polymorphisms with obesity parameters in both MS and MS -related insulin resistance, hypertension, and fatty liver suggest that polymorphisms in this gene may play a role in the pathogenesis of MS and also that they can be potentially used as a marker for attenuated or aggressive disease., Competing Interests: Financial Disclosure: The authors declared that this study received no financial support.

Objective: Soluble endoglin (S-endoglin) has been implicated as a potential marker of endothelial dysfunction (ED) and was reported to be elevated in diabetic adults, correlating with the severity of diabetic vasculopathy. However, circulating S-endoglin and its association with other markers of ED have not been formerly analyzed in the first decade of diabetes onset in adolescents with type 1 diabetes mellitus (T1DM)., Methods: Fifty-eight adolescents with moderately/poorly controlled T1DM were included in this study and twenty-nine healthy adolescents served as controls. The diabetic group was divided into two groups based on the presence of microalbuminuria, as the microalbuminuria group (n=15) and the normoalbuminuria group (n=43). Functional vascular alterations were evaluated by measuring serum S-endoglin and plasma nitric oxide (NO) concentrations, the flow-mediated dilatation (FMD) of the brachial artery. Carotid intima media thickness (CIMT) was measured for evaluation of structural vascular alterations., Results: The S-endoglin and NO levels of both microalbuminuria and normoalbuminuria groups were higher than those of the control group (for S-endoglin, p=0.047 and p<0.001; for NO, p=0.004 and p=0.006, respectively). The FMD percent was lower in the microalbuminuria group compared to the normoalbuminuria and control groups (p=0.036 and p=0.020, respectively). There were negative correlations between S-endoglin concentration and FMD percent (r=-0.213, p=0.051) and between serum S-endoglin concentration and albumin excretion rate (r=-0.361, p=0.005). No significant differences were found in CIMT among any of the groups (p=0.443)., Conclusion: In adolescents with T1DM, S-endoglin concentrations might increase in parallel to the deterioration in endothelial function before subclinical structural vascular alterations become evident.

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.)

Individuals with 45,X/46,XY karyotype are at increased risk for germ cell tumor development. We report a case with a diagnosis of 45,X/46,XY gonadal dysgenesis who presented with short stature, physical stigmata of Turner syndrome. Her pubertal development was at Tanner stage 3. At follow-up, bilateral prophylactic gonadectomy was performed when considering the risk factors. Pathological assessment was consistent with gonadoblastoma in the left gonad, and dysgerminoma and gonadoblastoma in neighboring areas in the right gonad. The karyotype analysis of the right and left gonadal tissues reveled 45,X[97,3]/46,XY[2,7] and 45,X[92,7]/46,XY[4,5]/47,XYY [2,8] mosaic, respectively. The clinical management of such patient should be individualized according to the present risk factors. Additionally, signs of estrogenization like advanced breast development always suggest the possible presence of germ cell tumor.

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.

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.

Arachnoid cysts (ACs), particularly suprasellar cysts, cause a wide spectrum of endocrine disorders. Herein, we report two patients diagnosed with an extensive AC in the middle cranial fossa while being investigated for etiologies of precocious puberty and short stature. One of them required surgery due to his pubertal disorders associated with compression effects of cyst. After surgery, his puberty progression was regressed within one year. On the other hand, surgery was not planned for the second patient considering of his cranial imaging findings and the extremely low incidence of growth hormone (GH) deficiency caused by middle fossa AC (MFAC). We started treatment with recombinant human GH and no complication was found during treatment follow-up. Endocrine disorders associated with MFACs are extremely rare. By presenting with these two cases, we aimed to remain our fellow physcians that ACs can be possibly cause of endocrine disorders. Clinicians should be careful evaluating endocrine disorders because real cause may not be cyst itself but masked by it.

Cardio-facio-cutaneous (CFC) syndrome is a rare disorder characterized by craniofacial dysmorphia, ectodermal abnormalities, cardiac malformations, as well as growth and developmental delay. Although some endocrine abnormalities have been reported in this syndrome, very little is known about CFC syndrome-related endocrine disorders. A 7.5-year-old boy was admitted to our endocrinology clinic with the complaint of short stature. He had a height of 103 cm [-4 standard deviation (SD)], a weight of 16 kg (<3(th) percentile, -1.7 SD), a facial appearance typical for the CFC syndrome, optic nerve hypoplasia and pulmonary stenosis. Genetic investigation revealed a heterozygous mutation in exon 3 of the MEK1 gene, c.389A>G (p. Y130C). During his long-term follow-up, the patient developed a variety of endocrine disorders including precocious puberty, growth hormone deficiency and hyperprolactinemia.

Aim: To investigate the relationship of adiponectin, leptin, resistin and RBP4 levels in obese and metabolic syndrome children with nonalcoholic fatty liver disease (NAFLD)., Patients & Methods: Group I consisted of 63 obese children with liver steatosis, group II consisted of 12 obese children with elevated serum ALT activity from group I, and group III included 85 obese children without liver steatosis., Results: Leptin levels were higher in the NAFLD children than in the control group. Serum RBP4 levels in obese children with NAFLD were higher than those in obese children without NAFLD and controls. Adiponectin and resistin levels were negatively correlated and RBP4 levels positively correlated with ALT activity and ultrasonographic grading., Conclusion: These data suggest that adiponectin, resistin and RBP4 may have a role in the pathogenesis of NAFLD in obese children. Adiponectin, leptin, resistin and RBP4 may be suitable markers for predicting metabolic syndrome and NAFLD.

Aim: To investigate the relationship between serum adiponectin, resistin and RBP4 levels and the components of metabolic syndrome., Patients & Methods: Serum adiponectin, resistin and RBP4 levels were detected and analyzed in 148 8-18-year-old Turkish obese pubertal children with/without metabolic syndrome., Results: Adiponectin and resistin concentrations were significantly inversely correlated with BMI standard deviation score, homeostatic model assessment insulin resistance, waist circumference, triglyceride levels and diastolic and systolic blood pressure, and were directly correlated with high-density lipoprotein cholesterol. RBP4 concentrations were directly correlated with homeostatic model assessment insulin resistance, waist circumference, triglyceride levels and diastolic and systolic blood pressure, and inversely correlated with high-density lipoprotein cholesterol., Conclusion: Adiponectin, RBP4 and, in particular, resistin levels may be used as suitable predictive biomarkers of metabolic syndrome.

Background/aims: Congenital hyperinsulinism (CHI) denotes an inappropriate secretion of insulin from pancreatic β-cells in the presence of a low blood glucose level due to various genetic causes. Diazoxide is the first-line medical treatment for CHI. In case of failure, a somatostatin analogue called octreotide is used. A prolonged QT interval is an unusual side effect of octreotide which can be lethal if unrecognized., Case Presentation: We report on a 35-day-old infant who was diagnosed with CHI on the 3rd day of his life and underwent pancreatectomy due to failure of medical treatment at 8 months. His genetic analysis revealed a compound heterozygosity for a novel missense mutation (p.Met115Val) and a nonsense mutation (p.Trp1339X) in the ABCC8 gene. Furthermore, at the 6th month of follow-up, a long QT (0.49 s) was determined by ECG examination, which was normalized following discontinuation of octreotide treatment after pancreatectomy. Thus, the long QT was considered to be secondary to octreotide medication., Conclusion: We recommend ECG monitoring before and during octreotide treatment in order to recognize a prolonged QT interval and to prevent related complications in cases with congenital hyperinsulinemia., (© 2013 S. Karger AG, Basel.)