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Background/Aim: The exon 3-deleted/full-length (d3/fl) growth hormone (GH) receptor (GHR) polymorphism has been associated with responsiveness to GH therapy in some diagnostic groups. However, there are still controversies on this issue. To evaluate the effect of the GHR exon 3 polymorphism on growth after 1 and 2 years of GH therapy in Turkish patients with GH deficiency (GHD) and Turner’s syndrome (TS) and the distribution of GHR exon 3 isoforms. Materials and Methods: 218 patients with GHD (125 males/93 females) and 43 patients with TS were included in the study. The control group included 477 healthy adults aged from 18 to 57 years (54 females/423 males). Anthropometric parameters and insulin-like growth factor (IGF)-1 and IGF binding protein (IGFBP)-3 were evaluated annually. GHR isoforms were studied using simple multiplex PCR. Height and body mass index were expressed as standard deviation score (SDS). Results: There were no differences among TS, GHD and healthy adults regarding the distribution of GHR exon 3 isoforms (fl/fl, fl/d3 and d3/d3). There was a significant increase in height SDS in both diagnostic groups on GH therapy; however, there were neither differences in height SDS and Δheight velocity between fl/fl, fl/d3 and d3/d3 groups nor a correlation between the distribution of GHR exon 3 isoforms and change in IGF-1 SDS and IGFBP-3 SDS levels on GH therapy in either of the diagnostic groups. There was also no gender difference in GHR isoforms in healthy adults. Conclusion: The results suggest that responsiveness to GH therapy does not depend on the exon 3 GHR genotypes in GHD and TS patients.

Sjögren-Larsson syndrome is a rare hereditary metabolic disorder characterized by congenital ichthyosis, mental retardation, and spastic diplegia or tetraplegia. This genetic disease is caused by fatty acid aldehyde dehydrogenase deficiency, leading to an accumulation of long-chain alcohols. The role of enzyme in the degradation of leukotrienes paved the way to the development of a new therapeutic strategy for Sjögren-Larsson syndrome, leukotriene antagonists. We describe a 3-year-old boy with Sjögren-Larsson syndrome who had a lipid peak on proton magnetic resonance spectroscopy despite normal findings on cerebral magnetic resonance imaging. He benefited from treatment with montelukast sodium, especially with respect to the agonizing pruritus.

Advanced oxidation protein products (AOPP) are considered reliable markers to estimate the degree of oxidant-mediated protein damage. Data on oxidative stress in childhood obesity and insulin resistance are limited.The aim of this study was to investigate the AOPP level as an oxidative stress marker in obesity and insulin resistance. The study included 57 pubertal obese children and adolescents (30 girls and 27 boys) and 20 healthy pubertal children and adolescents (11 girls and 9 boys).All participants in the obesity group underwent an oral glucose tolerance test (OGTT) and two separate groups were formed according to the existence of insulin resistance.AOPP levels were measured in the obesity and control groups spectrophotometrically. The obesity group consisted of 25 children and adolescents with insulin resistance and 32 subjects without insulin resistance. AOPP levels in the obesity group were found to be significantly higher than those in the control group. Although AOPP levels in the subjects with insulin resistance were higher than the subjects without insulin resistance, there was no significant difference between AOPP levels of subgroups with insulin resistance and without insulin resistance.This study showed protein oxidation in obesity with a novel oxidative stress marker and it also suggests that insulin resistance may play an important role as a source of oxidative stress in the development of other diseases after pubertal years.

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).

The most common chromosomal anomaly is 45,X in the Turner syndrome. In addition to this, anomaly, mosaicism such as structural 46,X,i(Xq), 46,X,del(Xp), 46,X,r(X), 46,X,t(X;Y) and numerical 46XO/46,XX/47XXX are seen rather frequently. An infant with the Turner syndrome was found to have a karyotype 45X,t(1;2) (q41;p16) using high resolution banding. Based on our knowledge, we present the first case of 45X,t(1;2) (q41;p11.2), a karyotype in Turner's syndrome in the literature. (C) 2002 Editions scientifiques et medicales Elsevier SAS. All rights reserved.

We present a 21 year-old woman with osteoporosis-pseudoglioma syndrome (OPPG) suffering from bone pain and frequent long bone fractures (approximately 1 or 2 fractures/ year) who was treated with i.v. pamidronate for 3 years. OPPG is a rare autosomal recessive disorder characterized by severe widespread osteoporosis leading to pathological fractures and congenital or early onset blindness. Bone mineral density (BMD) (g/cm 2 ) was determined at lumbar spine and femur neck by dual energy X-ray absorptiometry. BMD studies were also performed in her parents and 18 year-old brother who were phenotypically normal. Within 2 months of the first pamidronate treatment the patient reported considerable decrease in bone pain and improved mobility. During the treatment period no important side effects and no recurrent bone fracture were reported. There were substantial increases in BMD, T score and z-score at both lumbar spine and femoral neck during therapy. Baseline lumbar spine BMD increased from 0.416 to 0.489 g/cm 2 and femoral neck BMD increased from 0.455 to 0.532 g/cm 2 after 3 years. Although her parents and brother did not have any history of fracture, BMD measurements revealed that her parents were osteopenic and her brother was osteoporotic. We demonstrated that pamidronate therapy seems to be safe and beneficial in both spinal and peripheral skeleton osteoporosis in patients with OPPG. Moreover, the present study clearly indicates that bone density studies and LRP5 gene screening for mutations should be performed in phenotypically normal family members of patients with OPPG.

Objective. Simple fasting methods to measure insulin resistance, such as the homeostasis model assessment (HOMA), fasting glucose/insulin ratio (FGIR), and quantitative insulin sensitivity check index (QUICKI) methods, have been widely promoted for adult studies but have not been evaluated formally among children and adolescents. The aim of this study was to compare the HOMA, FGIR, and QUICKI methods for measuring insulin resistance, expressed by oral glucose tolerance test (OGTT) results, among obese children and adolescents. Methods. Fifty-seven pubertal obese children and adolescents (30 girls and 27 boys; mean age, 12.04 ± 2.90 years; mean BMI: 29.57 ± 5.53) participated in the study. All participants underwent an OGTT. Blood samples were obtained 0, 30, 60, 90, and 120 minutes after oral glucose administration for glucose and insulin measurements, and 2 separate groups were studied, according to the presence or absence of insulin resistance. HOMA, FGIR, and QUICKI methods were studied for validation of insulin resistance determined with the OGTT for these groups. Results. The groups consisted of 25 obese children and adolescents with insulin resistance (14 girls and 11 boys; mean age: 12.88 ± 2.88 years; mean BMI: 31.29 ± 5.86) and 32 subjects without insulin resistance (16 girls and 16 boys; mean age: 11.38 ± 2.79 years; mean BMI: 28.23 ± 4.94). There were significant differences in the mean HOMA (6.06 ± 4.98 and 3.42 ± 3.14, respectively) and QUICKI (0.313 ± 0.004 and 0.339 ± 0.004, respectively) values between the 2 groups. Sensitivity and specificity calculations based on insulin resistance with receiver operating characteristic curve analysis indicated that HOMA had high sensitivity and specificity for measuring insulin resistance. Conclusions. As a measure of insulin resistance among children and adolescents, HOMA is more reliable than FGIR and QUICKI. The present HOMA cutoff point for diagnosis of insulin resistance is 3.16. The HOMA cutoff point of >2.5 is valid for adults but not for adolescents.

We report a 6 year-old boy with the simple virilizing form of 21-hydroxylase deficiency in whom an adrenal adenoma developed following 5 years of steroid treatment. Extremely high levels of basal serum 17alpha-hydroxyprogesterone as well as an exaggerated response of 17alpha-hydroxyprogesterone to adrenocorticotropic hormone confirmed congenital adrenal hyperplasia at 7 years of age. Initially elevated serum steroid levels were restrained by high dose hydrocortisone therapy, but he chronically tended to take inadequate doses of glucocorticoid. At 12 years of age an adenoma was found in the cortex of the hyperplastic right adrenal gland. The importance of early diagnosis and compliance with medication in the simple virilizilng form of 21-hydroxylase deficiency is stressed.

Objective: To determine the prevalence of antibodies to hepatitis A (HAV) and E (HEV) viruses in the different areas of Konya. Methods: Anti-HAV and anti-HEV antibodies were investigated in 210 healthy children randomly selected (100 from rural areas and 110 from urban areas of Konya). None gave a history of previous icterus nor other signs of hepatitis, had received blood transfusion and HAV vaccine, or had been on hemodialysis. Results: Evidence of HAV infection occurred in children under the age of 6 years. The seroprevalence rate was 67.8% in rural areas and 25.8% in urban areas. This increased rapidly with age and became universal after 11 years of age in both areas. In contrast, HEV infections were not detected until children were 6–11 year olds, and the 5.2% seroprevalence rate in urban areas and 8.5% seroprevalence rate in rural areas in this age group did not significantly increase in older age group. The prevalence of anti-HAV as well as anti-HEV was significantly higher in children with poor socio-economic conditions in both areas. Conclusions: These results suggest that HAV infection in rural areas of Konya is widespread and that environmental and socio-economic factors play a major role in its transmission. In contrast, hepatitis E is not a public health problem in Konya.