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Adriana Aparecida Siviero-Miachon,1,2 Angela Maria Spinola-Castro,1,2 Maria Lucia de Martino Lee,2 Carlos Manoel de Castro Monteiro,3 Antonio Carlos de Camargo Carvalho,4 Antonio Ramos Calixto,5 Bruno Geloneze,5 Gil Guerra-Junior6 1Division of Pediatric Endocrinology, Department of Pediatrics, Federal University of Sao Paulo (UNIFESP/EPM), 2Pediatric Oncology Institute – IOP/GRAACC, Federal University of Sao Paulo (UNIFESP/EPM), 3Private Office, Castro Monteiro, Sao Paulo, 4Division of Cardiology, Federal University of Sao Paulo (UNIFESP/EPM), 5Laboratory of Investigation on Metabolism and Diabetes (LIMED), Faculty of Medical Sciences, State University of Campinas (UNICAMP), 6Division of Pediatric Endocrinology, Department of Pediatrics, Faculty of Medical Sciences, State University of Campinas (UNICAMP), Brazil Purpose: The aim of this study was to evaluate the relationship between body composition, metabolic profile, adipokines, and carotid intima-media thickness (cIMT) in young survivors of childhood acute lymphocytic leukemia (ALL). Patients and methods: This cross-sectional study compared 55 ALL survivors, of chronological age between 15 years and 24 years, assigned into two groups according to the exposure to cranial radiation therapy (CRT; 25 irradiated and 30 nonirradiated) with 24 leukemia-free controls, and assessed body fat mass (dual-energy X-ray absorptiometry), computed tomography scan-derived abdominal adipose tissue, lipid profile, blood pressure (BP), adipokines, and cIMT by a multiple regression analysis. Results: Treatment with CRT had an effect on all of the variables derived from the computed tomography scan: visceral adipose tissue (VAT) and subcutaneous adipose tissue (SAT) (P

Abstract Background The androgen insensitivity syndrome may cause developmental failure of normal male external genitalia in individuals with 46,XY karyotype. It results from the diminished or absent biological action of androgens, which is mediated by the androgen receptor in both embryo and secondary sex development. Mutations in the androgen receptor gene, located on the X chromosome, are responsible for the disease. Almost 70% of 46,XY affected individuals inherited mutations from their carrier mothers. Findings Molecular abnormalities in the androgen receptor gene in individuals of a Brazilian family with clinical features of severe forms of partial androgen insensitivity syndrome were evaluated. Seven members (five 46,XY females and two healthy mothers) of the family were included in the investigation. The coding exons and exon-intron junctions of androgen receptor gene were sequenced. Five 46,XY members of the family have been found to be hemizygous for the c.3015C>T nucleotide change in exon 7 of the androgen receptor gene, whereas the two 46,XX mothers were heterozygote carriers. This nucleotide substitution leads to the p.L830F mutation in the androgen receptor. Conclusions The novel p.L830F mutation is responsible for grades 5 and 6 of partial androgen insensitivity syndrome in two generations of a Brazilian family.

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.

Background: Raw data obtained through bioelectrical impedance analysis (BIA) have been applied in different populations to assess body fluids and cell integrity. Assessing raw BIA parameters in specific muscles is an emerging method for evaluating muscle function. We investigated the associations of the BIA-derived variables of resistance (R), reactance (Xc) and phase angle (PhA) measured through whole-body (WB) and muscle-localized (ML) methods with performance in the countermovement jump (CMJ) and 50-meter (m) sprint., Methods: Thirty-one male track and field athletes (16.5 ± 1.6 years) were assessed. Fat-free mass (FFM) and Fat mass percentage (%FM) were determined by skinfold thickness. BIA at 50 kHz was employed to obtain the WB and ML (right thigh) parameters. The WB and ML-BIA parameters were adjusted by height (R/H, Xc/H) and segment length (R/L, Xc/L). The CMJ assessment was conducted via a contact mat; the software recorded the jump height. The 50-m sprint time was measured via two sets of photocells. Pearson's correlation and linear multiple regression were performed., Results: ML-PhA was inversely related to the 50-m sprint (β=-0.56) and by itself explained 29% of the sprint time variation. It remained a significant predictor even after adjusting for age, height, FFM and peak height velocity (PHV). ML-R/L was directly related to 50-m sprint (β = 0.48) and inversely related to CMJ performance (β=-0.54), explaining 20% and 27% of the variation in 50-m sprint and CMJ performance, respectively. Similarly, it remained a significant predictor in the adjusted models. Correlations between WB-BIA (PhA, R/H) and performance tests were found to be dependent on covariates., Conclusions: In this sample, the ML-BIA parameters of R/L and PhA were significantly associated with performance independent of age, height, FFM and PHV. Higher ML-PhA values were associated with better sprint times, whereas higher ML-R/L values were associated with worse sprint times and CMJ performance., Competing Interests: Declarations. Ethics approval and consent to participate: The study was approved by the Ethics Committee of the State University of Campinas under protocol number 6.735.234 and was conducted in accordance with the Declaration of Helsinki. All participants provided written informed consent. For minors, informed consent to participate was obtained from their parents or legal guardians after they were thoroughly informed about all study procedures. Consent for publication: Not applicable. Competing interests: The authors declare no competing interests., (© 2024. The Author(s).)

This study aimed to verify the relationship between changes in thigh muscle-localized bioelectrical impedance analysis (ML-BIA) parameters and performance in a multiple-set exercise. The sample consisted of 30 female university students (22.1 ± 3.2 years). The ML-BIA parameters, including localized muscle resistance (ML-R), reactance (ML-Xc), and phase angle (ML-AngF), were evaluated using a tetrapolar bioelectric impedance device operating at a frequency of 50 KHz. The multiple sets protocol was performed with an isokinetic dynamometer. For body composition, total and leg lean soft tissue (LST) were evaluated using dual X-ray absortiometry. Student's t-test for paired samples was used to compare the ML-BIA parameters and thigh circumference pre and postexercise. Linear regression analysis was performed to verify the ∆ML-PhA as a predictor of peak torque for the three sets alone while controlling for total and leg LST. There were differences in the ML-R (∆ = 0.02 ± 1.45 Ω; p = 0.001; and E.S = 0.19), ML-Xc (∆ = 2.90 ± 4.12 Ω; p = 0.043; and E.S = 0.36), and thigh circumference (∆ = 0.82 ± 0.60 cm; p < 0.001; and E.S = 0.16) pre- and post-multiple sets. ΔML-PhA was a predictor of performance in the first set (p = 0.002), regardless of total and leg LST. However, the ΔML-PhA lost its explanatory power in the other sets (second and third), and the variables that best explained performance were total and leg LST. The ML-BIA (ML-R and ML-Xc) parameters were sensitive and changed after the multiple sets protocol, and the ΔML-PhA was a predictor of performance in the first set regardless of the total and leg LST., (© 2024 The Author(s). European Journal of Sport Science published by Wiley‐VCH GmbH on behalf of European College of Sport Science.)

Introduction: Military Physical Training programs represent a constant challenge for the Armed Forces to improve body composition indices and physical fitness levels. This study aimed to verify the influence of the type of training on the physical fitness and body composition of army cadets, using 2 strategies: a sports program (Athletes group) and conventional physical training (Traditional group)., Materials and Methods: This study involved new entrant male cadets who were selected for the Athletes group (n = 243, 19.08 ± 1.23 years) or the Traditional group (n = 356, 18.89 ± 0.97 years), with assessments occurring before and after the period of training (31.4 ± 3.9 weeks). Dual-energy X-ray absorptiometry was used to measure the bone mineral content (BMC), fat mass (FM), percentage of fat mass (%FM), and lean soft tissue (LST). The physical tests evaluated the 3,000 m run (RUN), 50 m swim (SWIM), pull-ups (PULL) on the horizontal bar, push-ups (PUSH) on the ground, and abdominal flexion (SITUP)., Results: Time × group interaction effects were observed for BMC (P < .001), LST (P < .023), RUN (P < .001), PULL (P = .006), PUSH (P < .001), SITUP (P = .007), and SWIM (P < .001). A significant effect of time was noted for all variables analyzed in both groups, except %FM. The Athletes group achieved better results in body composition and in PULL, PUSH, RUN, and SWIM at baseline and after the training period. The Traditional group demonstrated higher relative changes (%) after the training period in the LST (P = .001), PULL (P < .001), PUSH (P < .001), SITUP (P < .004), and SWIM (P < .001) compared to the Athletes group., Conclusion: Both physical training programs improved body composition and physical performance., (© The Association of Military Surgeons of the United States 2024. All rights reserved. For commercial re-use, please contact reprints@oup.com for reprints and translation rights for reprints. All other permissions can be obtained through our RightsLink service via the Permissions link on the article page on our site–for further information please contact journals.permissions@oup.com.)

Objective . This study aimed to investigate the capacity of the bioelectrical muscle localized phase angle (ML-PhA) as an indicator of muscle power and strength compared to whole body PhA (WB-PhA). Approach . This study assessed 30 young women (22.1 ± 3.2 years) for muscle power and strength using the Wingate test and isokinetic dynamometer, respectively. Bioimpedance analysis at 50 kHz was employed to assess WB-PhA and ML-PhA. Lean soft tissue (LST) and fat mass (FM) were quantified using dual x-ray absorptiometry. Performance values were stratified into tertiles for comparisons. Regression and mediation analysis were used to test WB-PhA and ML-PhA as performance predictors. Main results . Women in the second tertile of maximum muscle power demonstrated higher ML-PhA values than those in first tertile (13.6° ± 1.5° versus 11.5° ± 1.5°, p = 0.031). WB-PhA was a predictor of maximum muscle power even after adjusting for LST and FM ( β = 0.40, p = 0.039). ML-PhA alone predicted average muscle power ( β = 0.47, p = 0.008). FM percentage was negatively related to ML-PhA and average muscle power, and it mediated their relationship ( b = 0.14; bias-corrected and accelerated 95% confidence interval: 0.007-0.269). Significance . PhA values among tertiles demonstrated no differences and no correlation for strength variables. The results revealed that both WB and ML-PhA may be markers of muscle power in active young women., (© 2023 Institute of Physics and Engineering in Medicine.)

Background: Bioelectrical impedance analysis (BIA) is a technique widely used for estimating body composition and health-related parameters. The technology is relatively simple, quick, and non-invasive, and is currently used globally in diverse settings, including private clinicians' offices, sports and health clubs, and hospitals, and across a spectrum of age, body weight, and disease states. BIA parameters can be used to estimate body composition (fat, fat-free mass, total-body water and its compartments). Moreover, raw measurements including resistance, reactance, phase angle, and impedance vector length can also be used to track health-related markers, including hydration and malnutrition, and disease-prognostic, athletic and general health status. Body composition shows profound variability in association with age, sex, race and ethnicity, geographic ancestry, lifestyle, and health status. To advance understanding of this variability, we propose to develop a large and diverse multi-country dataset of BIA raw measures and derived body components. The aim of this paper is to describe the 'BIA International Database' project and encourage researchers to join the consortium., Methods: The Exercise and Health Laboratory of the Faculty of Human Kinetics, University of Lisbon has agreed to host the database using an online portal. At present, the database contains 277,922 measures from individuals ranging from 11 months to 102 years, along with additional data on these participants., Conclusion: The BIA International Database represents a key resource for research on body composition., (© 2023. The Author(s), under exclusive licence to Springer Nature Limited.)

Objective: The aim of this study was to evaluate the association of food consumption and body composition on bone parameters in adolescent soccer players., Methods: There were 148 male soccer players 12 to 18 y who participated in the study. Body composition was assessed by dual energy x-ray absorptiometry, comprising bone mineral density (BMD) and bone mineral content (BMC) of total body without head (TBLH), lumbar spine (L1-L4), and right femoral neck (RFN). The bone geometry variables measured were femoral strength index (FSI), buckling ratio (BR), section modulus (Z), cross-sectional moment of inertia (CSMI), and cross-sectional area (CSA). Food intake was analyzed using the 24-h food recall. Somatic maturation was estimated by the peak height velocity equation. For the statistical analysis, the stepwise multiple linear regression was used, with P < 0.05., Results: Regarding food consumption, there was a high protein intake and low calcium intake. Lean mass was a predictor of BMC of TBLH (R 2  = 0.524), L1-L4 (R 2  = 0.492), and RFN (R 2  = 0.405); BMD of L1-L4 (R 2  = 0.407) and RFN (R 2  = 0.27); Z (R 2  = 0.683), CSMI (R 2  = 0.630), and CSA (R 2  = 0.640). There was a negative correlation between protein intake with bone mass and bone geometry parameters., Conclusion: In adolescent soccer players, lean mass was a predictor of bone parameters, and high protein intake was negatively associated with bone mass and geometry., (Copyright © 2022 Elsevier Inc. All rights reserved.)

This study aimed to compare phase angle (PhA) and bioelectrical impedance vector analysis (BIVA) values between adult patients with congenital adrenal hyperplasia caused by 21-hydroxylase deficiency (CAH21OHD) and a control group. A total of 22 patients (15 women, 22.9 ± 3.7 years) were compared with 17 controls (11 women, 27.0 ± 2.5 years). Body composition was determined by dual-energy X-ray absorptiometry. Bioelectrical impedance was used to calculate PhA, and BIVA was performed using specific software. Student’s t-test and analysis of covariance were used to compare groups. Hedges’ G and partial n2 were calculated for the effect estimates. Hotelling’s t2 test was used to compare the mean impedance vectors between the groups. The Mahalanobis test was used to determine the distance between confidence ellipses. Patients with CAH21OHD had a higher fat mass percentage than that of the control group (both sexes). There was no significant difference in PhA values between groups (CAH21OHD vs. control) in females (6.9° vs. 6.3°, p = 0.092) and males (8.2° vs. 8.1°, p = 0.849), after adjusting for covariates (age and height). BIVA analysis showed a significant difference in the mean impedance vectors between the female groups (T2 = 15.9, D = 1.58, p = 0.003) owing to the higher reactance/height (Δ = 8.5; p < 0.001) of the patients. The PhA did not significantly differ between the groups. Female patients had significantly higher reactance values. However, further studies are needed to determine the usefulness of bioimpedance parameters in evaluating the hydration status and cellular integrity of patients with CAH21OHD.

Background: Applied research using the phase angle (PhA) in children and adolescents has increased notably. Using multilevel modeling in a fully Bayesian framework, we examined the relationships between PhA, age, sex, biological maturity status, and body size in 10-16-year-old adolescents., Methods: The sample comprised 519 adolescents (women, n = 241; men, n = 278) from Campinas, São Paulo, Brazil. Biological maturity status was assessed with self-examination of pubertal development for sexual maturity and maturity offset protocol to estimate age at peak height velocity (PHV) for somatic maturity status. Stature and body mass were measured by anthropometry. Phase angle was calculated based on raw resistance and reactance values (50 kHz frequency) obtained by bioelectrical impedance with the foot-to-hand technology., Results: The multilevel regression analysis revealed that boys had significantly higher values of phase angle than girls, adjusting for age group and sexual maturity status. Overall, older and more mature adolescents had higher values of phase angle. When considering aligning variation in the phase angle by distance to estimated PHV (maturity offset), there was a higher association between the phase angle and time before and after predicted age at PHV for boys ( r = 0.31, 90% CI: 0.23 to 0.39) than girls ( r = 0.2, 90% CI: 0.11 to 0.28). When including body mass in the multilevel models, corresponding changes in the overall body mass mediate most of the influence of the maturity status and age group on the phase angle., Conclusion: The present study demonstrated that the variability in phase angle is related to inter-individual variation in sex, age, and maturity status, as well as differences in body size. Research with adolescents considering phase angle should use multilevel modeling with standardized parameters as default to adjust for the concurrent influence of sex, age, maturity status, and body size., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2022 de Moraes, Quinaud, Ferreira, Lima, Carvalho and Guerra-Júnior.)

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 (r 2 = 0.68, p  < 0.001) and age, HDE, and FM in boys (r 2 = 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.

Background: Optimal control of traditional risk factors only partially attenuates the exceeding cardiovascular mortality of individuals with diabetes. Employment of machine learning (ML) techniques aimed at the identification of novel features of risk prediction is a compelling target to tackle residual cardiovascular risk. The objective of this study is to identify clinical phenotypes of T2D which are more prone to developing cardiovascular disease., Methods: The Brazilian Diabetes Study is a single-center, ongoing, prospective registry of T2D individuals. Eligible patients are 30 years old or older, with a confirmed T2D diagnosis. After an initial visit for the signature of the informed consent form and medical history registration, all volunteers undergo biochemical analysis, echocardiography, carotid ultrasound, ophthalmologist visit, dual x-ray absorptiometry, coronary artery calcium score, polyneuropathy assessment, advanced glycation end-products reader, and ambulatory blood pressure monitoring. A 5-year follow-up will be conducted by yearly phone interviews for endpoints disclosure. The primary endpoint is the difference between ML-based clinical phenotypes in the incidence of a composite of death, myocardial infarction, revascularization, and stroke. Since June/2016, 1030 patients (mean age: 57 years, diabetes duration of 9.7 years, 58% male) were enrolled in our study. The mean follow-up time was 3.7 years in October/2021., Conclusion: The BDS will be the first large population-based cohort dedicated to the identification of clinical phenotypes of T2D at higher risk of cardiovascular events. Data derived from this study will provide valuable information on risk estimation and prevention of cardiovascular and other diabetes-related events., Clinicaltrials.gov Identifier: NCT04949152.

Objectives: Wilm's Tumor (WT) is the most common pediatric kidney cancer. Whereas most WTs are isolated, approximately 5% are associated with syndromes such as Denys-Drash (DDS), characterized by early onset nephropathy, disorders of sex development and predisposition to WT., Case Presentation: A 46,XY patient presenting with bilateral WT and genital ambiguity without nephropathy was heterozygous for the novel c.851&#95;854dup variant in WT1 gene sequence. This variant affects the protein generating the frameshift p.(Ser285Argfs*14) that disrupts a nuclear localization signal (NLS) region., Conclusions: This molecular finding is compatible with the severe scenario regarding the Wilm's tumor presented by the patient even though nephropathy was absent., (© 2022 Walter de Gruyter GmbH, Berlin/Boston.)

The military are selected on the basis of physical standards and are regularly involved in strong physical activities, also related to particular sports training. The aims of the study were to analyze the effect of a 7-month military training program on body composition variables and the suitability of specific 'bioelectrical impedance vector analysis' (spBIVA), compared to DXA, to detect the changes in body composition. A sample of 270 male Brazilian cadets (19.1 ± 1.1 years), composed of a group practicing military physical training routine only (MT = 155) and a group involved in a specific sport training (SMT = 115), were measured by body composition assessments (evaluated by means of DXA and spBIVA) at the beginning and the end of the military routine year. The effect of training on body composition was similar in SMT and MT groups, with an increase in LST. DXA and spBIVA were correlated, with specific resistance (Rsp) and reactance (Xcsp) positively related to fat mass (FM), FM%, LST, and lean soft tissue index (LSTI), and phase angle positively related to LST and LSTI. Body composition variations due to physical training were recognized by spBIVA: the increase in muscle mass was indicated by the phase angle and Xcsp increase, and the stability of FM% was consistent with the unchanged values of Rsp. Military training produced an increase in muscle mass, but no change in FM%, independently of the sample characteristics at baseline and the practice of additional sports. SpBIVA is a suitable technique for the assessment of body composition in military people.

Introduction: Phase angle (PhA) determined by bioelectrical impedance (BIA) is related to body fluid balance and cell membrane integrity. Handgrip strength (HGS) is used to assess muscle strength and as an indicator of health. We aimed to determine the relationship between PhA and HGS in healthy young males and to verify whether this relationship is dependent on body components., Materials and Methods: Hundred and sixty-three healthy male army cadets (18.8 ± 0.6 years old) participated in the study. PhA was determined by BIA, HGS was assessed by a hydraulic dynamometer, and dual-energy X-ray absorptiometry determined: fat mass (FM), bone mineral content (BMC), and lean soft tissue (LST). Participants were divided according to the PhA tertile (first tertile: PhA < 7.14°, second tertile: 7.14° ≤ PhA < 7.83°, and third tertile: PhA ≥ 7.83°)., Results: Youth from the first tertile of PhA had lower BMC (2.8 kg vs. 3.0 kg and vs. 3.1 kg) and LST (51.7 vs. 53.8 kg and vs. 57.6 kg) compared to youth from the second and third tertile of PhA (P < .001), respectively. Additionally, lower HGS (83.0 kg vs. 93.1 kg) was found in the first tertile compared to the third tertile of PhA (P < .001). PhA explained 3% of the HGS variation (R2 = 0.029), while LST and BMC explained 39% (R2 = 0.385) and 22% (R2 = 0.221), respectively. Furthermore, the correlation between PhA and HGS was dependent on LST (P = .567) and BMC (P = .182)., Conclusion: In this sample, PhA showed a small relationship with HGS, remaining dependent on BMC and LST values. These results reinforce the importance of maintaining a physically active lifestyle with great lean mass and muscle strength values., (© The Association of Military Surgeons of the United States 2022. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.)

It is of great importance to investigate any potential detrimental effect on bone health in young adults with 21-hydroxylase enzyme deficiency undergoing glucocorticoid replacement therapy. This study demonstrated normal bone health in well-controlled patients. Additionally, glucocorticoid dose may play an important role in the mineral density of femoral neck region., Purpose: To compare regional bone mineral densities (BMDs) and bone statuses of young adults with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase enzyme (21OHase) deficiency with a control group. The duration and dose of glucocorticoid therapy and relative skeletal muscle index (an indicator of sarcopenia) were also analyzed as parameters to predict bone health., Methods: This case-control study included 23 patients (7 male and 16 female) and 20 controls (8 male and 12 female) matched by age range (18 to 31 years). Dual energy X-ray absorptiometry and phalangeal quantitative ultrasound (QUS) were used to estimate BMD and bone status, respectively., Results: No difference was observed between patients and controls (of both sexes) in absolute values of BMD and Z-scores for the total body, lumbar spine, and femoral neck; or the bone status (estimated by phalangeal QUS). Multiple linear regression analysis demonstrated that relative skeletal muscle index independently correlated with BMD of the entire body (β: 0.67, P = 0.007), the lumbar spine (β: 0.73, P = 0.005), and the femoral neck (β: 0.67, P = 0.007). However, the dose of glucocorticoids (β: - 0.38, P = 0.028) independently correlated with BMD in the femoral neck region alone., Conclusion: No signs of change in bone health were observed in patients with CAH when compared to the reference group. Additionally, a marker of sarcopenia was demonstrated to have a role in mineral density mechanisms in all analyzed bone sites. Only the femoral neck BMD seemed to be significantly dependent on glucocorticoid dose., (© 2021. International Osteoporosis Foundation and National Osteoporosis Foundation.)

Introduction: Ovotesticular disorder of sex development (OT-DSD) is a rare condition defined by concomitance of testicular tissue and ovarian tissue (containing follicles) in the same individual. In SRY-negative 46,XX OT-DSD, the presence of testicular tissue may be due to variations in NR5A1. Our aims were to search for NR5A1 variants in SRY-negative 46,XX OT-DSD patients and to perform a systematic review on the contribution of NR5A1 variations to 46,XX OT-DSD., Methods: Sanger sequencing of NR5A1 was performed in seven SRY-negative 46,XX OT-DSD patients: five simplex cases and two with another sibling with a 46,XX DSD. Systematic review of original studies on NR5A1 sequencing of 46,XX OT-DSD patients was performed according to PRISMA-P guideline. Case reports were selected for analysis of clinical features. Individuals with NR5A1-associated testicular DSD were not included., Results: Sanger sequencing of NR5A1 did not reveal pathogenic variants among our patients. Our cohort was included in this systematic review with seven other articles, totalizing fifty-six 46,XX OT-DSD patients investigated by Sanger or whole-exome sequencing. From them, three NR5A1 pathogenic variants were identified (5% of the cases). Clinical analysis of these 3 cases and 5 case reports revealed: predominance of ovotestis (13/16 gonads) and bilateral OT-DSD (5/8 cases)., Conclusion: The etiology of most 46,XX OT-DSD cases remains elusive, highlighting the importance of a deeper molecular investigation., (© 2023 S. Karger AG, Basel.)

Introduction: NR5A1 is an essential transcription factor that regulates several target genes involved in reproduction and endocrine function. Pathogenic variants in this gene are responsible for a wide spectrum of disorders/differences of sex development (DSD)., Methods: The molecular study involved Sanger sequencing, in vitro assays, and whole exome sequencing (WES)., Results: Four variants were identified within the NR5A1 non-coding region in 3 patients with 46,XY DSD. In vitro analyses showed that promoter activity was affected in all cases. WES revealed variants in SRA1, WWOX, and WDR11 genes., Discussion/conclusion: Evaluation of clinical and phenotypic significance of variants located in a non-coding region of a gene can be complex, and little is known regarding their association with DSD. Nevertheless, based on the important region for interaction with cofactors essential to promote appropriated sex development and on our in vitro results, it is feasible to say that an impact on gene expression can be expected and that this may be correlated with the DSD pathophysiology presented in our patients. Considering the number of cases that remain elusive after screening for the well-known DSD related genes, we emphasize the importance of a careful molecular analysis of NR5A1 non-coding region which is commonly neglected and might explain some idiopathic DSD cases., (© 2022 S. Karger AG, Basel.)

Background: The association of congenital adrenal hyperplasia (CAH) caused by 21-hydroxylase enzyme (21OHase) deficiency, duration of treatment and dosage with cardiovascular dysfunction in young adults remains unclear. We aimed to evaluate myocardial function, vascular structures and epicardial fat thickness in young adults with CAH as a result of 21OHase deficiency. Correlations between the duration and dose of glucocorticoid therapy and cardiovascular parameters were analysed., Methods: This case-control study of young adults (18-31 years old) included 20 patients (5 men and 15 women) and 16 control subjects (8 men and 8 women). Echocardiographic analysis was performed using high-resolution ultrasound., Results: No ultrasonographic changes in any indices of myocardial function, vascular structures and epicardial fat thickness were found in patients, except for an impaired left ventricular end-diastolic diameter in female patients (28.1 ± 1.6 vs 26.0 ± 2.4 mm/m 2 , P = .021), compared with those in individuals in the control group. Nevertheless, the individual patient values were within the normal range. Multiple linear regression analysis in female patients demonstrated that an elevated daily dose of glucocorticoids correlated with increased indices of left ventricular posterior wall thickness (Partial r = 0.68, P = .007), left ventricular end-diastolic diameter (Partial r = 0.62, P = .017), aortic diameter (Partial r = 0.60, P = .022) and left carotid artery intima-media thickness (Partial r = 0.61, P = .021), independently of treatment duration., Conclusion: No signs of cardiovascular dysfunction were observed in any patient. The daily dose of glucocorticoids may play a role in the mechanisms of some markers of cardiac hypertrophy, left ventricular and aortic dilation and subclinical atherosclerosis., (© 2021 John Wiley & Sons Ltd.)

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.

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 28cm for females and 29cm for males; for the group during PGV, the cutoff points were 30cm for females and 33cm for males; in the post-PGV group the cutoff values were 32cm in females and 35cm 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., (Copyright © 2021 Sociedade Brasileira de Pediatria. Published by Elsevier Editora Ltda. All rights reserved.)

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/m 2 , p = 0.003), trunk (4.0 ± 1.2 vs. 2.2 ± 0.8 kg/m 2 , p = 0.005), android (0.63 ± 0.24 vs. 0.32 ± 0.15 kg/m 2 , p = 0.008), gynoid (1.34 ± 0.43 vs. 0.74 ± 0.24 kg/m 2 , p = 0.005), arm (0.65 ± 0.16 vs. 0.39 ± 0.10 kg/m 2 , p = 0.009), and leg regions (2.7 ± 0.8 vs. 1.6 ± 0.4 kg/m 2 , 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., (© 2020 AOCS.)

Objective: To identify the prevalence of overweight in adolescents according to different classification criteria for obesity and somatic maturation stages., Methods: Cross-sectional study in 10 schools in a city from Southern Brazil, with 1715 adolescents. Height, weight, waist circumference, and neck circumference (NC) data were collected. Body Mass Index was classified according to World Health Organization (WHO) and Centers for Disease Control and Prevention criteria, and the waist-to-height ratio (WHtR) was classified according to Brazilian and European cut-off points. Somatic maturation was obtained through the Peak Height Velocity. The prevalence data were compared between sex and stages of somatic maturation; the concordance between different criteria was verified., Results: The prevalence of overweight was high in both sexes; WHO criteria showed that 34.5% of boys and 29.3% of girls were overweight. For the WHtR, the prevalence was 28.4% in boys and 23.7% in girls. NC classified 13.8% of boys and 15.8% of girls as being overweight. The prevalence of overweight was higher in adolescents before complete somatic maturation., Conclusions: The prevalence of overweight was high among adolescents. The boys presented higher frequency of overweight, except if NC was used to classify them. Adolescents before somatic maturation had a higher prevalence of overweight. NC showed a lower ability to track obese adolescents.

The practice of sports during the growth phase has a positive influence on bone mineral accrual. However, the effects of different sports are still not fully understood. The aim of this study was to evaluate the bone geometry in adolescent handball players. This is a cross-sectional study in which 53 female adolescents (12-17 years old) were divided into two groups: handball players (HG: n = 26), who must have had at least six months of participation in official competitions, and a control group (CG: n = 27). Bone geometry properties, such as cross-sectional area (CSA), cross-sectional moment of inertia (CSMI), section modulus (Z), and femoral strength index (FSI) were measured using DXA. Tanner's sexual maturity, menarche, peak height velocity, sun exposure, and calcium intake were assessed. An unpaired Student's t test or the Mann-Whitney test and multivariate analyzes were used to compare variables differences between groups. The HG group showed a significantly higher body mass index, weight and lean mass (LST), CSA, CSMI, Z, and FSI than the CG group. When the values were adjusted for LST, the differences disappeared. The LST has been shown to be relevant to the strength and bone stiffness of the femurs of female adolescents, and the competitive practice in handball may have contributed to its increase.

Objective: To evaluate, in a sample of patients with disorders of sex development (DSD), data related to the age at referral and their correlation with the initial complaints, gender at referral, defined gender after diagnosis and etiological diagnosis., Methods: Retrospective review of the age at the first consultation and the reason for it, initial social gender and gender after the diagnosis, karyotype and etiological diagnosis of all cases treated at a DSD outpatient clinic between 1989 and 2016. Cases that did not involve DSD and DSD diagnoses that do not usually involve ambiguous genitalia, thus not requiring specialized monitoring, were excluded., Results: Of the 1793 treated cases, 1139 were diagnosed with some type of DSD. This study excluded 430 cases (272 with Turner's syndrome, 66 with Klinefelter syndrome, and 92 with pure gonadal dysgenesis), thus a total 709 individuals were included. Of these, 82.9% were referred due to ambiguous genitalia; only one-quarter were still in the first month of life, and 6.6% were referred due to pubertal delay, with most of them aged 10 years or older. Of these patients, 68.6% had a diagnosis of XY DSD, 22.4% of XX DSD, and 9% of sex chromosome abnormalities., Conclusions: This study presents the largest series in the literature of patients with DSD treated in a single center. The time of referral of the majority of patients with ambiguous genitalia fell short of the ideal, and milder cases of ambiguous genitalia and many with pubertal manifestations were referred even later. The results reinforce the importance of continuing education for professionals who will have the first contact with these patients, mainly pediatricians and neonatologists., (Copyright © 2019 Sociedade Brasileira de Pediatria. Published by Elsevier Editora Ltda. All rights reserved.)

Williams-Beuren syndrome (WBS) is a rare genetic disease caused by a sporadic heterozygous microdeletion in 7q11.23. It is characterized by distinctive facial appearance, cardiopathy, short stature, intellectual disability, and endocrine abnormalities. To evaluate the growth pattern of patients with WBS and to identify the prevalence of malnutrition, overweight, and obesity in this population, a systematic review of studies published in English, between 1987 and 2018, was performed following the PRISMA protocol using the PubMed, Cochrane, and BIREME databases. Original articles and articles that evaluated growth status using weight, or height, or head circumference (HC), or body mass index (BMI) of individuals with WBS were included. Case reports, articles with data from other syndromes, and articles that did not present as a central theme the evaluation of growth were not included. WBS presented specific growth pattern, characterized by intrauterine growth restriction, low weight, length, and HC at birth. This global growth delay persisted during childhood and adolescence. BMI was not different to the reference population, and obesity was not observed in childhood. The mechanisms that determine this typical growth pattern are not totally clear; however, the typical pubertal development of these patients and the intrinsic and secondary lesions caused by microdeletion at 7q11.23 seem to be the major factors involved. Conclusion: Patients with WBS have a growth pattern different from the general reference population. The reference charts for normal population should not be used for WBS patients because it often underestimate their growth. Specific growth charts for WBS patients are necessary.

High-throughput techniques such as whole-exome sequencing (WES) show promise for the identification of candidate genes that underlie Mendelian diseases such as nephrotic syndrome (NS). These techniques have enabled the identification of a proportion of the approximately 54 genes associated with NS. However, the main pitfall of using WES in clinical and research practice is the identification of multiple variants, which hampers interpretation during downstream analysis. One useful strategy is to evaluate the co-inheritance of rare variants in affected family members. Here, we performed WES of a patient with steroid-resistant NS (SRNS) and intermittent microhematuria. Currently, 15 years after kidney transplantation, this patient presents normal kidney function. The patient was found to be homozygous for a rare MYO1E stop-gain variant, and was heterozygous for rare variants in NS-associated genes, COL4A4, KANK1, LAMB2, ANLN, E2F3, and APOL1. We evaluated the presence or absence of these variants in both parents and 11 siblings, three of whom exhibited a milder phenotype of the kidney disease. Analysis of variant segregation in the family, indicated the MYO1E stop-gain variant as the putative causal variant underlying the kidney disease in the patient and two of her affected sisters. Two secondary variants in COL4A4-identified in some other affected family members-require further functional studies to determine whether they play a role in the development of microhematuria in affected family members. Our data illustrate the difficulties in distinguishing the causal pathogenic variants from incidental findings after WES-based variant analysis, especially in heterogenous genetic conditions, such as NS.

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., (© 2019 Wiley Periodicals, Inc.)

Objective: Congenital adrenal hyperplasia (CAH) is an inborn error of metabolism and a common disorder of sex development where >90% of all cases are due to 21-hydroxylase deficiency. Novel and rare pathogenic variants account for 5% of all clinical cases. Here, we sought to investigate the functional and structural effects of four novel (p.Val358Ile, p.Arg369Gln, p.Asp377Tyr, and p.Leu461Pro) and three combinations of CYP21A2 variants (i.e. one allele containing two variants p.[Ile172Asn;Val358Ile], p.[Val281Leu;Arg369Gln], or p.[Asp377Tyr;Leu461Pro]) identified in patients with CAH., Methods: All variants were reconstructed by in vitro site-directed mutagenesis, the proteins were transiently expressed in COS-1 cells and enzyme activities directed toward the two natural substrates (17-hydroxyprogesterone and progesterone) were determined. In parallel, in silico prediction of the pathogenicity of the variants based on the human CYP21 X-ray structure was performed., Results: The novel variants, p.Val358Ile, p.Arg369Gln, p.Asp377Tyr, and p.Leu461Pro exhibited residual enzymatic activities within the range of non-classic (NC) CAH variants (40-82%). An additive effect on the reduction of enzymatic activity (1-17%) was observed when two variants were expressed together, as identified in several patients, resulting in either NC or more severe phenotypes. In silico predictions were in line with the in vitro data except for p.Leu461Pro., Conclusions: Altogether, the combination of clinical data, in silico prediction, and data from in vitro studies are important for establishing a correct genotype and phenotype correlation in patients with CAH., (Copyright © 2019 The Canadian Society of Clinical Chemists. Published by Elsevier Inc. All rights reserved.)

Objectives: The aim of this study was to evaluate the association between phase angle, body composition, and blood glucose changes in healthy young males after 6 months of physical training., Methods: Volunteers, 98 healthy males (18.8 ± 0.5 years), had 6 months of progressive physical training (5 days a week, 90 minutes a day). Resistance, reactance, and phase angle were obtained by bioelectrical impedance analysis, body composition (fat mass, bone mineral content [BMC], and lean soft tissue [LST]) by dual-energy X-ray absorptiometry, and blood glucose by reflectance photometry. Measurements were made at rest and in a fasted state, both before and after the training period., Results: Phase angle, reactance, BMC, and LST significantly increased (0.6°, 3.8 Ω, 0.1 kg, and 1.9 kg, respectively; P < .01), whereas resistance and blood glucose decreased (-11.2 Ω and -4.1 mg/dL; P < .01). Changes in resistance and reactance explained those changes observed in LST (R 2 = .26 and .16, respectively), but phase angle changes were not related to body composition and blood glucose alterations (P < .05)., Conclusions: A 6-month period of physical training was associated with positive changes in phase angle, body composition, and blood glucose in healthy young males, reinforcing the importance of maintaining a physically active lifestyle., (© 2019 Wiley Periodicals, Inc.)

Objectives: The aim of this study was to test the accuracy of different methods of resting energy expenditure (REE) data analysis using indirect calorimetry (IC) during traditional (30 min) and abbreviated (10 min) protocols., Methods: Fifteen women and 15 men (21-34 y of age) completed two consecutive 30-min IC measurements. Body composition was measured using dual-energy x-ray absorptiometry. The reference method for REE analysis was 5 min in steady state (SS) during 30 min (first 5 min discarded). REE measurements were randomized to define a reference or testing method. An interval method was defined using 25, 20, and 15 min (with first 5, 10, and 15 min discarded, respectively), during 30 min, and 5 min (first 5 min discarded) during 10-min intervals. The SS method was defined using 5 min in SS (first 5 min discarded) during 30 min, 5, 4, and 3 min in SS during 10-min (first 5 min discarded) intervals., Results: Interval methods during 30 min and SS and interval methods during 10 min demonstrated large bias with significantly high REEs compared to the reference method (78.8-109.0 kcal/d, all P < 0.001). Testing methods demonstrated large upper limits of agreement between 225.2 and 322.8 kcal/d. No mean differences (P > 0.05), small bias (14.3 kcal/d), and narrow limits of agreement (-125.8 to 154.4 kcal/d) were observed between 5-min SS during 30 min and the reference method., Conclusions: All interval methods and SS methods during 10 min overestimated REE. We recommend using 5-min SS during 30 min. The measurement may be repeated until all participants achieve SS., (Copyright © 2019 Elsevier Ltd. All rights reserved.)

Objective: To verify the effectiveness of educational interventions based on guidance on physical activity and nutrition in schoolchildren., Data Sources: A systematic search was carried out in four electronic databases containing articles published between October 2007 and January 2017 and addressing educational interventions with emphasis on both nutritional education and physical activity in schoolchildren and adolescents aged 10 to 19 years., Data Synthesis: Twelve articles were selected for this review, of which four included only educational interventions; four made and association between educational interventions, inclusion of healthy foods and physical activity; two made a relation between guidelines and physical activity; and finally, two associated guidelines with consumption of healthy foods., Conclusions: Interventions based on physical activity and/or nutrition counseling were efficient and showed superior results in studies that associated the practice of physical activity with counseling. However, the need for new studies on educational interventions among schoolchildren and adolescents was made evident.

Historically, the terms partial (PGD) and mixed gonadal dysgenesis (MGD) have been used to describe incomplete testicular differentiation in individuals with 46,XY or 45,X/46,XY karyotypes, respectively. However, it is currently unclear to what extent clinical features actually differ between these individuals. The aim of this study was to compare clinical, laboratory, and histological findings in these 2 groups. Patients with testicular dysgenesis seen in our service between 1989 and 2013 were selected. Sixty-one patients met the inclusion criteria. Individuals with 46,XY and 45,X/46,XY karyotypes were compared regarding genital features, gonadal histology and function, growth, and associated conditions. Twenty-five had mosaicism with a 45,X cell line (MGD), while a 46,XY karyotype (PGD) was found in 36 cases belonging to 32 families. Mutations in NR5A1, WT1, and SRY genes associated with testicular dysgenesis were found in 12 families. There were no significant differences regarding parental consanguinity, degree of external androgenization, gonadal location, histology, and function, and associated conditions. However, in the MGD group, the presence of a uterus, lower birth weight and length, and short stature were more often observed. Therefore, the use of histological features to classify PDG and MGD should be abandoned and replaced by classification based on karyotype., (© 2019 S. Karger AG, Basel.)

Background: To analyze the association between a 34-week military training on body composition, physical fitness and compensatory changes in resting energy expenditure (REE) recognized as adaptive thermogenesis (AT). We also explored if regional body composition changes were related to AT., Methods: Twenty-nine male army cadets, aged 17 to 22 years were tested at baseline (T0) and after 34-weeks military training (T1). Physical training was performed 5 days/week during 90 minutes/day. Measurements included body composition by dual-energy x-ray absorptiometry; physical fitness by 3000-m running, pull-up, 50-m freestyle swimming, push-up and sit-up tests; REE measured by indirect calorimetry (REEm) and predicted from fat-free mass (FFM), fat mass (FM) and ethnicity at T0 (REEp). %AT was calculated using values at T1: 100(REEm/REEp-1); and AT (kcal/day) as %AT/100 multiplied by baseline REEm., Results: Physical training was associated with increases of lean soft tissue (LST) (∆1.2±1.3 kg), FM (∆1.4±1.3 kg), FFM (∆1.2±1.3 kg) and physical fitness (P<0.01), but no REE changes (∆59.6±168.9 kcal/day) and AT were observed (P>0.05). Though a large variability was found, AT was partially explained by trunk LST (r2=0.17, P=0.027). Individuals showing a higher AT response demonstrated a higher trunk LST increase (∆0.8±0.7 kg, P<0.05)., Conclusions: The military training increased LST, FM, FFM and physical fitness. Though no mean changes in AT occurred, a large individual variability was observed with some participants increasing REE beyond the expected body composition changes, suggesting a spendthrift phenotype. Changes of trunk LST may play an important role in the AT response observed in these individuals.

Background: Musculoskeletal injuries are the main cause of premature discharge from military service and can sometimes lead to permanent disabilities. Some intrinsic risk factors are well discussed in the literature. However, the relation between body composition variables and the risk for musculoskeletal injury is not well known or recognized., Methods: This prospective study evaluated 205 Brazilian military students. At the beginning of military service, health status and sports experience prior to military service were registered. Anthropometric variables were evaluated, and bone and body composition variables were measured using dual-energy X-ray absorptiometry. The occurrence of musculoskeletal injuries throughout the year was registered at the military physiotherapy service. At the end of 1 year of follow-up, risk factors were analysed by comparing the variables between the injured and non-injured students., Results: No difference in previous health status was found between injured and non-injured groups, whereas sports experience prior to military service was identified as a protective factor (Odds Ratio (OR) 0.323; 95% CI: 0.108-0.968; p = 0.044). Anthropometric, bone, and body composition variables could not be identified as risk factors for musculoskeletal injuries in Brazilian military students., Conclusion: Anthropometric, bone, and body composition variables could not be considered risk factors for musculoskeletal injuries in Brazilian military students.

Background: Deficiency of 17α-hydroxylase (17OHD) is a rare form of adrenal hyperplasia. Diagnosis is generally delayed, impairing appropriate treatment., Case Presentation: Here, we report the clinical, molecular, hormonal, and treatment data of three unrelated 17OHD patients, aged 14-16 years with hypergonadotrophic hypogonadism; uncontrolled hypertension; primary adrenal insufficiency; and high progesterone, low to normal potassium, and low dehydroepiandrosterone, androstenedione, and testosterone levels. Liquid chromatography coupled with tandem mass spectrometry (LC-MS/MS) at baseline and after an adrenocorticotropic hormone test showed low cortisol and cortisone and high deoxycorticosterone (DOC) and corticosterone levels; both DOC/21-deoxycortisol and costicosterone/cortisol ratios were very high. Patient 2 had 46,XX karyotype and patients 1 and 3, had 46,XY. A molecular analysis showed that two of the patients were homozygous for p.W406R mutation and the other patient was compound heterozygous for p.W406R and p.P428L. Hypertension was controlled only after the administration of both prednisone and mineralocorticoid antagonist., Conclusions: Hypertension in young women must lead to diagnostic suspicion, even in the pre-pubertal period. The basal level of progesterone is an indicator of 17OHD. Mineral and glucocorticoid ratios obtained from LC-MS/MS can reinforce the diagnosis. Hypertension can be controlled using glucocorticoid replacement therapy and mineralocorticoid antagonist.

Introduction: Bioelectrical impedance analysis (BIA) is a practical and rapid method for making a longitudinal analysis of changes in body composition. However, most BIA validation studies have been performed in a clinical population and only at one moment, or point in time (cross-sectional study). The aim of this study is to investigate the accuracy of predictive equations based on BIA with regard to the changes in fat-free mass (FFM) in Brazilian male army cadets after 7 mo of military training. The values used were determined using dual-energy X-ray absorptiometry (DXA) as a reference method., Materials and Methods: The study included 310 male Brazilian Army cadets (aged 17-24 yr). FFM was measured using eight general predictive BIA equations, with one equation specifically applied to this population sample, and the values were compared with results obtained using DXA. The student's t-test, adjusted coefficient of determination (R2), standard error of estimation (SEE), Lin's approach, and the Bland-Altman test were used to determine the accuracy of the predictive BIA equations used to estimate FFM in this population and between the two moments (pre- and post-moment)., Results: The FFM measured using the nine predictive BIA equations, and determined using DXA at the post-moment, showed a significant increase when compared with the pre-moment (p < 0.05). All nine predictive BIA equations were able to detect FFM changes in the army cadets between the two moments in a very similar way to the reference method (DXA). However, only the one BIA equation specific to this population showed no significant differences in the FFM estimation between DXA at pre- and post-moment of military routine. All predictive BIA equations showed large limits of agreement using the Bland-Altman approach., Conclusion: The eight general predictive BIA equations used in this study were not found to be valid for analyzing the FFM changes in the Brazilian male army cadets, after a period of approximately 7 mo of military training. Although the BIA equation specific to this population is dependent on the amount of FFM, it appears to be a good alternative to DXA for assessing FFM in Brazilian male army cadets.

Background: Dopamine is involved in several cerebral physiological processes, and single nucleotide polymorphisms (SNP) in the dopamine D2 receptor gene (DRD2) have been associated with numerous neurological and mental disorders, including those involving alterations in cognitive and emotional processes., Methods: The aim of this study was to evaluate the association between the SNPs c.957C > T (rs6277) and c.-585A > G (rs1799978) in the DRD2 gene and behavioral characteristics of children and adolescents based on an inventory of the Child Behavior Checklist (CBCL). Children and adolescents between 8 and 20 years old who were clinically followed-up were genotyped for the SNPs c.957C > T and c.-585A > G, and related to data of the CBCL/6-18 scale assessment performed with the help of caregivers. The chi-squared test was used to assess the differences in the frequencies of the C and T alleles in the polymorphism c.957C > T and of the A and G alleles in the polymorphism c.-585A > G with respect to the grouped CBCL scores at a significance level of 5%. Multiple logistic regression models were performed, to control whether sex and/or ethnicity could influence the results., Results: Eighty-five patients were assessed overall, and the presence of the T allele (C/T and T/T) of DRD2 c.957C > T polymorphism was found to be significantly associated with the occurrence of defiant and oppositional problems and with attention and hyperactivity problems. There were no associations detected with polymorphism DRD2 c.-585A > G polymorphism. Both SNPs were in Hardy-Weinberg-equilibrium., Conclusions: Although the findings of this study are preliminary, due to its small number of participants, the presence of T allele (C/T, T/T) in c.957C > T SNP was associated with difficulty in impulse control, self-control of emotions, and conduct adjustment, which can contribute to improving the identification of mental and behavioral phenotypes associated with gene expression.