Accuracy of anthropometric measurements in estimating fat mass in individuals with 21-hydroxylase deficiency

Objective: the use of anthropometric measurements to estimate the percentage of body fat (%BF) is easy and inexpensive. However, the accuracy of these methods in patients with 21-hydroxylase deficiency (21OHD) has not been explored. the objective of this study was to evaluate the accuracy of skinfold-based models, body mass index (BMI), and waist circumference (WC) in estimations of %BF using dual-energy X-ray absorptiometry (DXA) as the reference method in individuals with 21OHD.Methods: Fifty-four 21OHD patients (32 women and 22 men), aged 7 to 20 y, were recruited for the study. DXA was used to determine %BF; four predictive skinfold equations, BMI, and WC were assessed for accuracy in determining %BF.Results: All predictive skinfold equations were highly associated (R, range: 0.82-0.89) with DXA %BF values. in women, BMI and WC showed moderate correlations (R = 0.69 for both BMI and WC) with DXA values. in contrast, among men there was a low explanatory power for BMI (13%) and WC (4%) and high errors (BMI, 6.9%; WC, 7.4%). All predictive equations significantly underestimated %BF (range of differences, -4.1 to -8.9) compared with DXA (women, 31.3 +/- 6.1; men, 24.4 +/- 7.3), and large limits of agreement were observed (range, -15.3 to 1.7 and -15.5 to 4.2 for women and men, respectively).Conclusion: in children and adolescents with 21OHD, %BF as estimated by skinfold measurements was associated more strongly with DXA-assessed %BF than both BMI and WC. However, still, the skinfold-based assessment underestimated DXA %BF and showed moderate agreement (C) 2012 Elsevier Inc. All rights reserved

The Novel WT1 Gene Mutation p.H377N Associated to Denys-Drash Syndrome

Denys-Drash syndrome (DDS, Online Mendelian Inheritance in Man number 194080) is a rare human developmental disease generally occurring in 46,XY individuals characterized by the combination of disorder of sex development, early onset nephropathy, and Wilms' tumor (WT). DDS is mainly caused by mutations in the WT1 gene. This report describes a novel WT1 gene mutation in a DDS patient. Sequencing the WT1 gene revealed a heterozygous transversion CAT > AAT within exon 8, causing the substitution of an asparagine for a histidine at residue 377. the p.H377N mutation is predicted to diminish the WT1 protein DNA-binding affinity as it might disrupt the normal zinc finger 2 conformation.Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)Ctr Infantil Boldrini, Mol Biol Lab, BR-13083210 São Paulo, BrazilUniv Estadual Campinas, Lab Genet Mol Humana, Ctr Biol Mol & Engn Genet, São Paulo, BrazilUniv Estadual Campinas, Dept Pediat, São Paulo, BrazilUNIFESP, EPMWeb of Scienc