Betul Ersoy

Bone mineral density in girls and boys at different pubertal stages: relation with gonadal steroids, bone formation markers, and growth parameters

Puberty has a key role in bone development. During puberty, several nutritional and hormonal factors play a major role in this process. The aim of this study was to determine the changes in areal bone mineral density (BMD), gonadal steroids, bone formation markers, and growth parameters in healthy Turkish pubertal girls and boys at different pubertal stages. In additional, we aimed to detect the relationship between BMD, sex steroids, and growth parameters, and to reveal the most important determinant of BMD in the pubertal period. BMD of the lumbar spine and total body was performed by dual-energy X-ray absorptiometry (Lunar DPX series) in 174 healthy pubertal children (91 girls, 83 boys), aged 11–15 years. Height and weight were measured. Pubertal stages were assesed. Bone formation markers and gonadal steroids were measured. BMD values significantly increased until stage IV in girls. In boys, BMD values also increased during puberty (P < 0.05), but it was significantly higher in stage IV compared with that in other pubertal stages (P < 0.01). Testosterone levels increased until stage IV in both sexes, particularly in boys. Estrogen levels significantly increased during puberty in girls, whereas it was significantly higher at stage IV in boys (P < 0.001). Bone-specific alkaline phosphatase (BAP) level was higher in early and midpuberty, and decreased in late puberty in girls (P < 0.001). BAP level was higher in stage IV in boys. Osteocalcin level was shown not to change significantly in pubertal stages. There was a modest correlation between BMD values and estrogen and testosterone levels in boys. In girls, there was a correlation between BMD values and estrogen levels only (P < 0.05). Weight was significantly associated with BMD in both sexes (P < 0.05). Estrogen had a significant influence on BMD in boys and girls. In conclusion, bone mass increased throughout puberty in both sexes. Peak bone mass was not achieved in girls, but was obtained at stage IV in boys. Bone formation markers were good predictors of bone mass in girls, but not in boys. Estrogen level made the greatest contribution to bone mineral acquisition in boys and girls. The achievement of peak bone mass was sustained by estrogen in boys. The major independent determinant of BMD in both sexes was weight.

Partial and whole gene deletion mutations of the GCK and HNF1A genes in maturity-onset diabetes of the young.

Aims/hypothesisHeterozygous mutations of glucokinase (GCK) and hepatocyte nuclear factor-1 alpha (HNF1A; also known as hepatic transcription factor 1 [TCF1]) genes are the most common cause of MODY. Genomic deletions of the HNF1B (also known as TCF2) gene have recently been shown to account for one third of mutations causing renal cysts and diabetes syndrome. We investigated the prevalence of partial and whole gene deletions in UK patients meeting clinical criteria for GCK or HNF-1α/-4α MODY and in whom no mutation had been identified by sequence analysis.MethodsA multiplex ligation-dependent probe amplification (MLPA) assay was developed using synthetic oligonucleotide probes for 30 exons of the GCK, HNF1A and HNF4A genes.ResultsPartial or whole gene deletions were identified in 1/29 (3.5%) probands using the GCK MLPA assay and 4/60 (6.7%) of probands using the HNF1A/-4A MLPA assay. Four different deletions were detected: GCK exon 2, HNF1A exon 1, HNF1A exons 2 to 10 and HNF1A exons 1 to 10. An additional Danish pedigree with evidence of linkage to HNF1A had a deletion of exons 2 to 10. Testing other family members confirmed co-segregation of the deletion mutations with diabetes in the pedigrees.Conclusions/interpretationLarge deletions encompassing whole exons can cause GCK or HNF-1α MODY and will not be detected by sequencing. Gene dosage assays, such as MLPA, are a useful adjunct to sequence analysis when a diagnosis of MODY is strongly suspected.

The effect of obesity on testicular function by insulin-like factor 3, inhibin B, and leptin concentrations in obese adolescents according to pubertal stages.

OBJECTIVES The aim of the present study is to investigate the effect of obesity on testicular function by evaluating reproductive hormones, inhibinB, insulin-like 3(INSL3), and leptin, in obese and non-obese adolescents according to pubertal Tanner stages. DESIGN AND METHODS Eighty adolescent boys were grouped (n=20) as; Group1: obese-Tanner2, Group2: non-obese-Tanner2, Group3: obese-Tanner4, Group4: non-obese-Tanner4. Serum INSL3, luteinizing hormone, follicle-stimulating hormone, total testosterone, free testosterone, estradiol, sex hormone binding globulin, inhibin B and leptin levels were assessed in all groups. RESULTS INSL3 levels were significantly lower in obese adolescents compared to non-obese boys (p=0.003, Tanner2) and (p=0.031, Tanner4). There was a negative correlation between INSL3 and leptin (r=-0.468, p=0.001). The negative correlation between INSL3 and BMISDS indicates that pubertal obesity leads to Leydig cell impairment. CONCLUSIONS This study demonstrated for the first time in the literature that obesity effects testicular Leydig cell function starting from Tanner stage 2.

Evaluation of Nutritional Status in Turkish Adolescents as Related to Gender and Socioeconomic Status

Objective: To evaluate the nutritional status of Turkish high school adolescents using anthropometric indicators and to determine the relationship of nutritional status with gender and socioeconomic status (SES) in adolescents. Methods: Six hundred eighty adolescent students (n=284 males, 396 females) aged 14−18 years were selected from 6 high schools of different regions. Nutritional status was evaluated according to the anthropometric indicators, which were based on the WHO criteria. Adolescents were grouped into three SES categories. Results: The rates of being stunted, underweight, and overweight/obesity were 4.4%, 5.0% and 16.8%, respectively. Height and weight standard deviation scores (SDS) were significantly lower in adolescents with low SES (p<0.05). The frequency of stunting was significantly higher in adolescents with low SES (p=0.012). Frequency of underweight, overweight and obesity did not differ significantly between socioeconomic groups and genders (p>0.05). Conclusion: Adolescents of low SES were shorter and thinner than those of other SES categories. Undernutrition needs to be addressed in low SES. Among all Turkish adolescents, the major nutritional problems were overweight and obesity. There were no SES and gender differences in prevalence of overweight and obesity among the Turkish school adolescents living in urban areas. Prevalence of obesity is rising, regardless of differences in SES and gender, in developing countries too. Conflict of interest:None declared.

Assessment of Sleep-Related Breathing Disorders in Patients With Duchenne Muscular Dystrophy

Background Respiratory failure is a significant cause of morbidity and mortality in neuromuscular diseases. Although clinical findings and respiratory function tests aid in diagnosing sleep-related breathing disorders, polysomnography is the gold standard for the diagnosis of these disorders. We aimed to investigate the role of sleep-wake symptoms and clinical findings of patients with Duchenne muscular dystrophy (DMD) in predicting sleep-related breathing disorders through the comparison of polysomnography findings. In addition, we evaluated the sleep architecture of our patients. Methods A total of 35 children (12 patients with DMD and 23 controls) were included in this cross-sectional study. Activity status and clinical severity of the patients were determined by history and clinical findings such as scoliosis, obesity. All subjects were hospitalized for one night in the Sleep Unit and their polysomnography examinations were performed. Sleep, breathing, arousals and limb movements were scored manually according to the American Sleep Disorders Association criteria. Results Nocturnal and daytime symptoms were present in 50% of patients with DMD, 40.8% were wheelchair-bound and 58% had scoliosis. Obstructive sleep apnea was noted in 16.6% of patients with DMD. The apnea-hypopnea index, leg movement index were significantly higher in the DMD group as compared to the control group (P < 0.05). The number of desaturations, total arousal index and the percentage of total superficial sleep were significantly higher in patients with wheelchair, scoliosis, sleep-wake symptoms. Conclusions Being wheelchair-bound or having scoliosis do not predict sleep-related breathing disorders, so patients with DMD should be followed-up via polysomnography. Sleep-wake symptoms should be carefully questioned in these patients and symptomatic patients should be referred to pediatric respiratory units.

Are Human Adenovirus-5 and 36 Associated With Obesity in Children?

Objectives The aims of this study were to determine the association between adenovirus-5– and adenovirus-36–specific antibodies and obesity in children and to investigate their relationship with serum lipid and leptin levels. Methods A cross-sectional study was performed on a total of 120 children who were divided into subgroups according to body mass index percentile as obese (≥95th percentile) or nonobese (<95th percentile). The presence of adenovirus-36 and adenovirus-5–neutralizing antibodies was investigated by using the serum neutralization assay. Serum leptin levels were determined by microenzyme immonoassay; high-density lipoprotein, low-density lipoprotein, triglyceride, and cholesterol levels were measured by chemiluminescence method. Results The presence of adenovirus-5–specific antibodies was 28.3% and 6.6% in the obese children and in non–obese children, respectively (P = 0.02). The frequency of adenovirus-36–specific antibodies was significantly greater (P = 0.018) in the obese children (26.6%) than in the non–obese children (10.0%). Serum leptin level of the obese group were significantly higher than that of the non–obese group (P = 0.000). Conclusions Our data support the association between obesity and the presence of specific antibodies to adenovirus-36 and adenovirus-5 in children. Our research has the feature of being the first national study to indicate the relationship between adenovirus-36 and human obesity as well as the first international study to indicate the relationship between adenovirus-5 and human obesity.

Changes in quantitative ultrasound in preterm and term infants during the first year of life

Since most of in utero bone mass accretion occurs during the third trimester and postnatal need for bone nutrients is increased, preterm infants have an increased risk of low bone mass. Early identification of the risk is of crucial importance. Quantitative ultrasound, which is a relatively inexpensive, portable, noninvasive, and radiation-free method, gives information about bone density, cortical thickness, elasticity and microarchitecture. The aim of this study was to obtain quantitative ultrasound measurements of tibial speed of sound of preterm and term infants and to assess clinical factors associated with these measurements during the first year of life. Seventy-eight preterm and 48 term infants were enrolled in this study. Measurements were made on the 10th day of life in both groups, and were repeated on the 2nd, 6th and 12th months for preterm infants and on the 12th month for the term infants. Speed of sound on preterm infants was significantly decreased on the 2nd month but significantly increased on the 12th month (P=0.00). Comparing speed of sound of term and preterm infants, 10th day measurements were significantly different (P=0.00), but there was not any significant difference between the 12th month values (P=0.26). There was not any relation between biochemical parameters and speed of sound. The technique has potential clinical value for assessment of bone status. Further studies with long term follow up are needed to evaluate the value of quantitative ultrasound with other bone markers to predict the risk of fracture.

Inflammatory marker levels in obese adolescents with glucose intolerance: Increased chitotriosidase activity

OBJECTIVES Existence of low grade persistent inflammation in obese children may increase the risk of metabolic and cardiovascular events. The aim was to determine whether glucose intolerance has an influence on inflammatory markers in obese adolescents. DESIGNS AND METHODS 45 obese adolescents (mean BMI: 30.34±5.42 kg/m²) were grouped as normal or impaired glucose tolerance. IL-6 and CRP levels were analyzed by commercially available kits. Chitotriosidase activity was measured by a fluorescence method and neopterin levels were determined by ELISA. Data were expressed as mean±SD. RESULTS IL-6 and CRP levels were similar in the two groups. Serum neopterin levels were not different between the groups. The chitotriosidase activity was significantly higher in the IGT group than NGT (124.33±51.97 μmol/L/h vs 84.50±53.99 μmol/L/h, p=0.04). CONCLUSION Serum chitotriosidase activity is increased in obese adolescents with impaired glucose tolerance.

Factors affecting carotid intima media thickness predicts early atherosclerosis in overweight and obese adolescents

SUMMARY OBJECTIVE Aims of this study were to compare serum leptin levels, atherosclerotic markers and carotid intima media thickness (IMT) among the overweight, obese and normal weight healthy adolescents and to investigate the association of carotid IMT with leptin and atherosclerotic markers in adolescence. METHODS Seventy obese-overweight adolescents (27 of them obese, 43 of them overweight) and 72 two normal weight adolescents aged 14-18 years were included in this study. Leptin and homocysteine levels and lipid profiles were determined and carotid IMT were measured in all adolescents. Subjects were evaluated as obese-overweight and normal weight and obese, overweight and normal weight. RESULTS Carotid IMT was significantly different among the overweight adolescents, obese adolescents and the control group (p < 0.001). Leptin levels were significantly higher in obese-overweight adolescents compared to the control group (p < 0.001). Apolipoprotein (Apo) B levels were significantly higher in obese adolescents than the overweight ones and the control group (p < 0.016). There were significantly positive correlations of carotid IMT with leptin, homocysteine and Apo B levels (p < 0.05, r = 0.33, 0.28, 021, respectively). The factors associated with carotid IMT were leptin and ApoB levels (β = 0.632, p < 0.04, β = 0.264, p = 0.019, respectively). CONCLUSION Subclinical atherosclerosis determined by carotid IMT begins in overweight adolescents. Elevated leptin and Apo B levels are independent predictors of subclinical atherosclerosis. Leptin resistance, which is related to subclinical atherosclerosis, also begins in overweight adolescents. High Apo B levels, which promote development of atherosclerosis are more prominent in obese adolescents than other groups. For these reasons, all necessary precautions should be taken in overweight adolescents to prevent atherosclerosis as well as in obese adolescents.

Turner syndrome and associated problems in turkish children: A multicenter study

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.