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The aim of the study was to evaluate the relationship between sedentary behavior, bone mass, and bone geometry among young male basketball and volleyball players. This cross-sectional study included 55 adolescent basketball (n = 21) and volleyball (n = 34) players (14–17 years). Body composition (body mass index, fat mass, and lean mass) was measured by dual-energy X-ray absorptiometry, comprising bone mineral density, bone mineral content at the lumbar spine, and femoral neck. Bone geometry considered the femur strength index, section modulus, cross-sectional moment of inertia, and cross-sectional area. Dietary intake was obtained through a semiquantitative questionnaire, and the sedentary behavior, by the Adolescent Sedentary Activity Questionnaire. Linear regression models, fitted by Bayesian methods, explored the variation of the variables by sport. Body composition and bone mass values were high for both sports, but there was no variation for body composition. Adjusting for age, there was no association of sedentary behavior on bone parameters. For femoral strength index, age had a moderate to large association with all bone indicators. Lastly, there was influence of sport (level-2 unit) on the estimates of the association between sedentary behavior and age with bone indicators, as uncertainty estimates for group-level effects were high. There is no association between sedentary behavior and bone parameters, showing that accumulated training loads (15+ h/wk) among young basketball and volleyball players are critical; producing a positive stimulus on bone parameters development. [ABSTRACT FROM AUTHOR]

Background: Patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CAH21OHD) have increased fat mass and metabolic alterations. The bioelectrical impedance phase angle (PhA) is an indicator of cellular integrity in several diseases. This study aimed to determine the influence of adiposity levels, sex, CAH21OHD, pubertal development, body composition, and treatment on the PhA of patients with CAH21OHD. Methods: Forty girls and 30 boys with CAH21OHD aged 15.3 ± 5.8 years were evaluated. Sexual maturation was assessed by a pediatrician. The PhA was assessed using bioelectrical impedance, percentage of fat mass (% FM), and lean soft tissue (LST) with dual-energy X-ray absorptiometry. Adiposity levels were compared using % FM tertiles and body mass index (BMI). Glucocorticoid dosage was converted using hydrocortisone dose equivalent (HDE). Results: No differences were found in the PhA values among the clinical form (p=0.103), BMI (p=0.498), and % FM (p=0.654) groups. High PhA values were observed in boys (p=0.011) and postpubertal (p<0.001) patients. LST, HDE, and height in girls (r² = 0.68, p<0.001) and age, HDE, and FM in boys (r² = 0.82, p<0.001) determined the PhA variations. BMI explained 14% (p=0.032) of the PhA variations, whereas LST, height, HDE, and FM (kg) explained 66% (p<0.001) in the prepubertal, pubertal, and postpubertal groups, respectively. Conclusion: LST determined the PhA variations in girls and the postpubertal group. Age and BMI were determinants in boys and the pre- and pubertal groups, respectively. [ABSTRACT FROM AUTHOR]

Purpose: To examine the influence of participation in competitive sports on bone parameters, as assessed by quantitative ultrasound (QUS) of the phalanges in female adolescents. Methods: Female adolescents (n = 329, 13.0-16.7 years old) were classified into handball (n = 55), swimming (n = 49) and control (n = 225) groups. QUS was used to evaluate the amplitude-dependent speed of sound (AD-SoS) and bone transmission time (BTT), and their z-scores (zAD-SoS and zBTT) were calculated. Anthropometric measurements and Tanner's stages were also obtained. Results: Swimmers had higher AD-SoS (2089 ± 43.8 m/s) and zAD-SoS (0.47 ± 0.8) than controls (2060 ± 54.0 m/s; 0.09 ± 1.0; both p ≤ .05) and both groups of athletes had higher BTT (handball: 1.44 ± 0.2 |as; swimming: 1.45 ± 0.2) and zBTT (handball: 0.71+0.8; swimming: 0.72 ±1.1) than the control group (1.37 ± 0.2 µs; 0.32 ± 0.9; all p ≤ .05). Swimmers had a higher total training time (TTT: 52.5 ± 27.6 months) and frequency of training per week (FT: 5.38 ±0.1) compared with the handball group (35.9 ±18.1; 3.32 ±0.8;p ≤ .05). zAD-SoS, BTT and zBTT were positively correlated with FT, while BTT and zBTT showed a positive correlation with TTT. Conclusions: Sports practice influences bone parameters and higher bone parameter values are related to the amount of time and frequency of weekly training. The differences in phalangeal QUS parameters are independent of the impact of weight-bearing exercise. [ABSTRACT FROM AUTHOR]

Objectives: to evaluate the bone mass in prepubertal patients with Turner Syndrome (TS) according to height age (HA) and verify the influence of karyotype and adiposity. Methods: retrospective and analytical study of prepubertal TS patients. The variables analyzed were: karyotype, age at bone densitometry (BD), height, body mass index (BMI) and BD result. The result of the BD was corrected using HA. BMI and BD were calculated on Z score for chronological age (CA) and for HA. Results: thirty-seven prepubertal patients were selected and after exclusion criteria, 13 cases between 10 and 13 years old were included in the study. The BD for HA was significantly higher than for CA (0.39 ± 1.18 x -1.62 ± 1.32), without karyotype (p=0.369) and BMI (p=0.697) influence. Conclusion: prepubertal TS patients present normal BD when corrected for HA, without influence of karyotype and BMI. [ABSTRACT FROM AUTHOR]

We compared the effect of dapagliflozin versus glibenclamide on the ratio of lean-to total mass in patients with type 2 diabetes mellitus, carotid subclinical atherosclerosis, HbA1c 7.0–9.0% and 40–70 years-old. Ninety-eight patients (61% male; mean age 57 ± 7 years) were randomized into dapagliflozin 10 mg/day or glibenclamide 5 mg/day on top of metformin. Body composition was measured by Dual Energy X-Ray at randomization and after 12 weeks of treatment. Glycemic control was equivalent in both groups. Dapagliflozin decreased total body mass (−2741 g [95% CI: −3360 to 1945]; p < 0.001) and lean mass (−347 g [95% CI: −761 to −106]; p < 0.001), while glibenclamide increased total body mass (1060 g [95% CI: 140 to 1836]; p < 0.001) and lean mass (929 g [95% CI: 575 to 1283]; p < 0.001) for the differences between arms. The lean-to-total mass ratio increased by 1.2% in the dapagliflozin group and 0,018% in the glibenclamide group (p < 0.001). Dapagliflozin reduced the risk of a negative balance in the lean-to total mass ratio [OR: 0.16 (95% CI: 0.05 to 0.45); p < 0.001] even after adjustment for baseline lean-to total mass ratio, waist circumference, HOMAIR, HbA1c, mean of the two hands handgrip strength and gait speed [OR: 0.13 (95% CI: 0.03–0.57); p < 0.007]. In conclusion, under equivalent glycemic control, dapagliflozin reduced total body mass but increased the ratio of lean-to-total mass when compared with glibenclamide. [ABSTRACT FROM AUTHOR]

Abstract Background Congenital adrenal hyperplasia due to 21-hydroxylase deficiency is caused by deletions, large gene conversions or mutations in CYP21A2 gene. The human gene is located at 6p21.3 within a locus containing the genes for putative serine/threonine Kinase RP, complement C4, steroid 21-hydroxylase CYP21 tenascin TNX, normally, in a duplicated cluster known as RCCX module. The CYP21 extra copy is a pseudogene (CYP21A1P). In Brazil, 30-kb deletion forming monomodular alleles that carry chimeric CYP21A1P/A2 genes corresponds to ~9% of disease-causing alleles. Such alleles are considered to result from unequal crossovers within the bimodular C4/CYP21 locus. Depending on the localization of recombination breakpoint, different alleles can be generated conferring the locus high degree of allelic variability. The purpose of the study was to investigate the variability of deleted alleles in patients with 21-hydroxylase deficiency. Methods We used different techniques to investigate the variability of 30-kb deletion alleles in patients with 21-hydroxylase deficiency. Alleles were first selected after Southern blotting. The composition of CYP21A1P/A2 chimeric genes was investigated by ASO-PCR and MLPA analyses followed by sequencing to refine the location of recombination breakpoints. Twenty patients carrying at least one allele with C4/CYP21 30-kb deletion were included in the study. Results An allele carrying a CYP21A1P/A2 chimeric gene was found unusually associated to a C4B/C4A Taq I 6.4-kb fragment, generally associated to C4B and CYP21A1P deletions. A novel haplotype bearing both p.P34L and p.H62L, novel and rare mutations, respectively, was identified in exon 1, however p.P30L, the most frequent pseudogene-derived mutation in this exon, was absent. Four unrelated patients showed this haplotype. Absence of p.P34L in CYP21A1P of normal controls indicated that it is not derived from pseudogene. In addition, the combination of different approaches revealed nine haplotypes for deleted 21-hydroxylase deficiency alleles. Conclusions This study demonstrated high allelic variability for 30-kb deletion in patients with 21-hydroxylase deficiency indicating that a founder effect might be improbable for most monomodular alleles carrying CYP21A1P/A2 chimeric genes in Brazil.

Objective: To indicate neck circumference (NC) cutoff points to identify excess weight at different stages of somatic maturation and evaluate the association between NC and body mass index (BMI). Methods: Cross-sectional study with 1715 adolescents. BMI was classified according to the World Health Organization (WHO) criteria. Somatic maturation was obtained through the peak growth velocity (PGV). To define the cutoff points, curves of the receiver operating characteristic (ROC) model were constructed. The agreement between the anthropometric evaluation instruments was analyzed. The association between the variables was verified. Results: Of the girls, 93 were in the pre-PGV stage, 266 in the PGV stage, and 481 in the post-PGV stage. Of the boys, 264 were in the pre-PGV stage, 334 in the PGV stage, and 277 in the post-PGV stage. For the pre-PGV group, the cutoff point was 28 cm for females and 29 cm for males; for the group during PGV, the cutoff points were 30 cm for females and 33 cm for males; in the post-PGV group the cutoff values were 32 cm in females and 35 cm in males. The prevalence of excess weight was higher in the pre-PGV stage in males and in the PGV stage in females. The correlation coefficients were higher in the pre-PGV and PGV stages. Conclusion: The cutoff points for NC found in this study showed good sensitivity and specificity to identify excess weight in Brazilian adolescents and can be used as a reference in epidemiological studies. [ABSTRACT FROM AUTHOR]

Copyright of Revista Paulista de Pediatria is the property of Assocoacao de Pediatria de Sao Paulo and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

We aimed to compare detailed fat distribution and lipid profile between young adults with congenital adrenal hyperplasia due to 21‐hydroxylase enzyme deficiency and a control group. We also verified independent associations of treatment duration and daily hydrocortisone dose equivalent (HDE) with lipid profile within patients. This case–control study included 23 patients (7 male and 16 female) matched by an age range of young adults (18–31 years) with 20 control subjects (8 male and 12 female). Dual energy X‐ray absorptiometry was used to measure the fat distribution. Male patients demonstrated elevated indices of fat mass for total (7.7 ± 2.1 vs. 4.5 ± 1.3 kg/m2, p = 0.003), trunk (4.0 ± 1.2 vs. 2.2 ± 0.8 kg/m2, p = 0.005), android (0.63 ± 0.24 vs. 0.32 ± 0.15 kg/m2, p = 0.008), gynoid (1.34 ± 0.43 vs. 0.74 ± 0.24 kg/m2, p = 0.005), arm (0.65 ± 0.16 vs. 0.39 ± 0.10 kg/m2, p = 0.009), and leg regions (2.7 ± 0.8 vs. 1.6 ± 0.4 kg/m2, p = 0.005) than the control group, but not in females. However, female patients demonstrated elevated ratio of low‐density lipoprotein cholesterol to high‐density lipoprotein cholesterol (1.90 ± 0.46 vs. 1.39 ± 0.47, p = 0.009) than the control group, but not in males. Total fat mass was inversely correlated with total testosterone (r = −0.64, p = 0.014) and positively correlated with leptin in males (r = 0.75, p = 0.002). An elevated daily HDE (β = 0.43, p = 0.038 and β = 0.47, p = 0.033) and trunk to total fat mass ratio (β = 0.46, p = 0.025, and β = 0.45, p = 0.037) were independently correlated with impaired lipid profile markers. Although there is no altered lipid profile, male patients demonstrated an increased fat distribution. However, female patients presented with an impaired lipid profile marker but demonstrated close values of normal fat distribution. Interestingly, the dose of glucocorticoid therapy can have some role in the lipid mechanisms. [ABSTRACT FROM AUTHOR]

Copyright of Jornal de Pediatria is the property of Sociedade Brasileira de Pediatria and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Nuclear receptor subfamily 5 group A member 1 (NR5A1), also named steroidogenic factor 1, is an essential transcription factor that regulates a number of target genes crucial for normal reproductive physiology and endocrine function. It is encoded by NR5A1 gene and is expressed in high doses mainly in steroidogenic tissues, where it controls several steps of adrenal and gonadal development. NR5A1 mutations are associated with a wide phenotypic spectrum of disorders/differences of sex development (DSD), a group of conditions in which development of chromosomal, gonadal, or anatomic sex is atypical. Here, we reviewed 188 NR5A1 mutations from 238 cases reported in literature so far. Additionally, we report the variations p.Ser4*, p.(Cys55Ser), p.(Met78Leu), and p.Met98Glyfs*45, which have not been annotated for NR5A1 before and were identified in some of the 205 46,XY patients of our own cohort. This is the first NR5A1 mutation review which includes both 46,XX and 46,XY karyotype, with the purpose of discussing the complexity of genotype–phenotype correlations among DSD and infertile male patients and also females with primary ovarian failure. [ABSTRACT FROM AUTHOR]