Common polymorphisms of growth hormone: Growth hormone receptor axis in Turkish children with short stature

Objective: A single-nucleotide polymorphism of the growth hormone 1 gene, GH1IVS4+90A>T (rs2665802), associated with short stature and a polymorphism of the growth hormone receptor gene, exon 3 deleted variant, associated with increased responsiveness to growth hormone have been reported previously. We aimed to investigate the frequency of both polymorphisms and their correlation to height in Turkish short children. Also, we aimed to evaluate the effect of exon 3 deleted variant on response to 1-year growth hormone therapy. Materials and Methods: Children with idiopathic isolated growth hormone deficiency (n = 39) and with idiopathic short stature (n = 10) and 50 control subjects were evaluated for anthropo-metric parameters, annual growth velocity, and annual height gain. Growth hormone receptor gene polymorphisms were analyzed via multiplex polymerase chain reaction; growth hormone 1 gene polymorphism was analyzed via polymerase chain reaction and single-strand confor-mation polymorphism techniques. Results: The frequency of genotypes carrying the “A” allele was not significantly higher in the idiopathic isolated growth hormone deficiency group than in the idiopathic short stature and control groups (P = .03 for each). The exon 3 deleted variant genotype was significantly lower in the idiopathic short stature group compared to the control group (P = .01). There was no effect of exon 3 deleted variant, on response to the first-year growth hormone therapy. Conclusion: In Turkish population, no correlation was found between the “A” allele of GH1IVS4+90A>T polymorphism and idiopathic isolated growth hormone deficiency and short stature, and a significant negative correlation was found between exon 3 deleted variant and idiopathic short stature and short stature. Exon 3 deleted variant has no effect on response to growth hormone treatment.Istanbul Universit

Factors associated with increased carotid intima-media thickness and being nondipper in nonobese and normotensive young patients affected by PCOS

Polycystic ovary syndrome (PCOS) is characterized by chronic unovulation, hyperandrogenism, and insulin resistance. We evaluated factors that affect nondipper status during 24-hour ambulatory blood pressure monitoring (ABPM) and carotid intima-media thickness (cIMT) in PCOS. Forty-two nonobese women newly diagnosed as PCOS and 32 healthy women were included. After biochemical and hormonal measurements, the ovaries were imaged by pelvic ultrasonography and cIMT was measured by B-mode ultrasonography. A 24-hour ABPM was performed thereafter. Carotid IMT and the ratio of nondippers were elevated compared with controls. Homeostasis model assessment insulin resistance index (HOMA-IR) and low-density lipoprotein cholesterol (LDL-C) were found to be related with being a nondipper in PCOS. None of the parameters evaluated were found to correlate with cIMT. In conclusion, patients with PCOS had increased nondipping ratios and cIMT when compared with controls. Insulin resistance and LDL cholesterol are factors that are related to diurnal variation in normotensive and young patients with PCOS

Cross-national variation in the association between family structure and overweight and obesity: Findings from the Health Behaviour in School-aged children (HBSC) study

Background Trends of increased complexity in family structure have developed alongside increasing prevalence of overweight and obesity. This study examines cross-national variations in the likelihood of living with overweight and obesity among adolescents living with one parent versus two parents, as well as the influence of living with stepparents, grandparents and siblings. Furthermore, the study explores how these associations relate to age, gender and individual-level socioeconomic status (SES) and country-level SES. We hypothesised that adolescents living in one-parent versus two-parents families, were more likely to live with overweight and obesity. Methods The study is based on nationally representative data from 41 countries participating in the 2013/14 Health Behaviors in School-Aged Children study (n = 211.798). Multilevel logistic regression analysis was used to examine the associations between family structure and overweight and obesity by age, gender, SES, and geographic region, among adolescents aged 11, 13 and 15 years. Results Living with one versus two parent(s) was associated with a higher likelihood of overweight and obesity (ORadj.1.13, 95%CI 1.08,1.17). Age, gender, individual-level SES, and living with grandparents were also associated with a higher likelihood of overweight and obesity, whereas living with siblings was associated with a lower likelihood of overweight and obesity. The effect of family structure varied also by age and gender with no significant associations found between living with one parent and overweight and obesity in the 15-year-old age group. Some cross-national variation was observed, and this was partly explained by country-level SES. The effect of family structure increased by a factor 1.08 per one-unit change in country-level SES (OR 1.08, 95%CI1.03, 1.12). Conclusion The study indicates that living in a one-parent family, as well as living together with grandparents, are associated with overweight and obesity among adolescents, particularly in the Nordic European region. Existing welfare policies may be insufficient to eliminate inequalities related to family structure differences.publishedVersio

Clinical characteristics and growth hormone treatment in patients with prader-willi syndrome

Objective: To investigate clinical characteristics and response to growth hormone (GH) treatment in patients with Prader-Willi syndrome (PWS) in Turkey. Methods: The data of 52 PWS patients from ten centers was retrospectively analyzed. A nation-wide, web-based data system was used for data collection. Demographic, clinical, genetic, and laboratory data and follow-up information of the patients were evaluated. Results: The median age of patients at presentation was 1.5 years, and 50% were females. Genetic analysis showed microdeletion in 69.2%, uniparental disomy in 11.5%, imprinting defect in 1.9% and methylation abnormality in 17.3%. Hypotonia (55.7%), feeding difficulties (36.5%) and obesity (30.7%) were the most common complaints. Cryptorchidism and micropenis were present in 69.2% and 15.3% of males, respectively. At presentation, 25% had short stature, 44.2% were obese, 9.6% were overweight and 17.3% were underweight. Median age of obese patients was significantly higher than underweight patients. Central hypothyroidism and adrenal insufficiency were present in 30.7% and 4.7%, respectively. Hypogonadism was present in 75% at normal age of puberty. GH treatment was started in 40% at a mean age of 4.7±2.7 years. After two years of GH treatment, a significant increase in height SDS was observed. However, body mass index (BMI) standard deviation (SDS) remained unchanged. Conclusion: The most frequent complaints were hypotonia and feeding difficulty at first presentation. Obesity was the initial finding in 44.2%. GH treatment was started in less than half of the patients. While GH treatment significantly increased height SDS, BMI SDS remained unchanged, possibly due to the relatively older age at GH start. Keywords: Prader-Willi syndrome, endocrine dysfunction, growth hormone treatment, body compositio

Weight Status and Mental Well-Being Among Adolescents: The Mediating Role of Self-Perceived Body Weight. A Cross-National Survey

Purpose Overweight and obesity are associated with poor mental health in adolescents. However, little is known about whether the influence of overweight and obesity on mental well-being is mediated by self-perceived body weight. Exploring the mechanisms underlying the relationships between obesity and mental well-being is of interest to policy makers and others working in the field of adolescent health. Methods 76,998). Mixed regression models that included gender and socioeconomic status as covariates were used to identify associations between weight status and mental well-being (life satisfaction and subjective health complaints) and to explore whether self-perceived body weight (feeling too thin or too fat) has a mediating effect. Associations between weight status, self-perceived weight, and mental well-being were further assessed country by country. Results Self-perceived body weight mediated the observed associations between overweight or obesity and mental well-being. Perceiving one's body weight as “too thin” or “too fat” was associated with poorer mental well-being, regardless of weight status. Self-perceived body weight varied by gender, socioeconomic status, and country. Discussion Self-perceived body weight may explain, to a greater extent than body mass index, variation in mental well-being among adolescents. These results are important to policy makers, clinicians, and others targeting adolescent health

Volume CXIV, Number 4, November 7, 1996

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 lifespa

Clinical and Laboratory Characteristics of Hyperprolactinemia in Children and Adolescents: National Survey

Conclusion: We present the largest cohort of children and adolescents with hyperprolactinemia in the literature to date. Hyperprolactinemia is more common in females and cabergoline is highly effective and practical to use in adolescents, due to its biweekly dosing. Indications for surgery in pediatric cases need to be revised

Kuraklık ve tuz streslerinin mercimek ((lens culinaris m.) fidelerinin antioksidan savunma sistemi ve fizyolojisi üzerine etkileri.

In this study, 14 days old lentil seedlings (Lens culinaris Medik cv. Sultan), which were subjected to 7 days of drought (20% PEG 6000), and salt (150 mM NaCl ) stress , were examined in a comparative manner for the effects of drought and salt stress treatments. In shoot and root tissues physiological parameters such as wet-dry weight, relative water content, root-shoot lengths, membrane electrolyte leakage, and lipid peroxidation in terms of malondialdehyde (MDA) were determined. H2O2 content, proline accumulation and chlorophyll fluorescence analysis were also performed. Changes in the activity of antioxidant enzymes such as superoxide dismutase (SOD: EC 1.15.1.1), catalase (CAT: EC 1.11.1.6) ascorbate peroxidase (APX: EC 1.11.1.11) and glutathione reductase (GR: EC 1.6.4.2) were observed upon stress treatments. In salt treated lentil seedlings, significant decreases in wet-dry weight, RWC, shoot-root length and chlorophyll fluorescence measurements indicated a sensitivity, when compared to drought treated plants. Higher MDA concentration and higher electrolyte leakage amounts are supported these results. APX, GR and proline seem to play important roles in antioxidant defense against salt stress for both tissues by removing reactive oxygen species and protecting macromolecules and membranes. GR and proline are also maintains the main protective mechanism against drought stress effects. SOD is active in drought stressed roots and salt stressed shoots, where the H2O2 contents are also observed to be increased.M.S. - Master of Scienc