The Sitting Height/Height Ratio for Age in Healthy and Short Individuals and Its Potential Role in Selecting Short Children for SHOX Analysis

dc.creatorMalaquias, AC
dc.creatorScalco, RC
dc.creatorFontenele, EGP
dc.creatorCostalonga, EF
dc.creatorBaldin, AD
dc.creatorBraz, AF
dc.creatorFunari, MFA
dc.creatorNishi, MY
dc.creatorGuerra, G
dc.creatorMendonca, BB
dc.creatorArnhold, IJP
dc.creatorJorge, AAL
dc.date2013
dc.date2014-07-30T19:00:27Z
dc.date2015-11-26T17:50:22Z
dc.date2014-07-30T19:00:27Z
dc.date2015-11-26T17:50:22Z
dc.date.accessioned2018-03-29T00:33:35Z
dc.date.available2018-03-29T00:33:35Z
dc.identifierHormone Research In Paediatrics. Karger, v. 80, n. 6, n. 449, n. 456, 2013.
dc.identifier1663-2818
dc.identifier1663-2826
dc.identifierWOS:000330133300011
dc.identifier10.1159/000355411
dc.identifierhttp://www.repositorio.unicamp.br/jspui/handle/REPOSIP/72461
dc.identifierhttp://repositorio.unicamp.br/jspui/handle/REPOSIP/72461
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1289659
dc.descriptionFundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
dc.descriptionConselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)
dc.descriptionAims: To determine the presence of abnormal body proportion, assessed by sitting height/height ratio for age and sex (SH/H SDS) in healthy and short individuals, and to estimate its role in selecting short children for SHOX analysis. Methods: Height, sitting height and weight were evaluated in 1,771 healthy children, 128 children with idiopathic short stature (ISS), 58 individuals with SHOX defects (SHOX-D) and 193 females with Turner syndrome (TS). Results: The frequency of abnormal body proportion, defined as SH/H SDS > 2, in ISS children was 16.4% (95% CI 10-22%), which was higher than in controls (1.4%, 95% CI 0.8-1.9%, p < 0.001). The SHOX gene was evaluated in all disproportionate ISS children and defects in this gene were observed in 19%. Among patients with SHOX-D, 88% of children (95% CI 75-100%) and 96% of adults had body disproportion. In contrast, SH/H SDS > 2 were less common in children (48%, 95% CI 37-59%) and in adults (28%, 95% CI 20-36%) with TS. Conclusion: Abnormal body proportions were observed in almost all individuals with SHOX-D, 50% of females with TS and 16% of children considered ISS. Defects in SHOX gene were identified in 19% of ISS children with SH/H SDS > 2, suggesting that SH/H SDS is a useful tool to select children for undergoing SHOX molecular studies. (C) 2013 S. Karger AG, Basel
dc.description80
dc.description6
dc.description449
dc.description456
dc.descriptionFundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
dc.descriptionConselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)
dc.descriptionFundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
dc.descriptionConselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)
dc.descriptionFAPESP [2008/50184-2, 2013/03236-5, 2007/59555-0]
dc.descriptionCNPq [301339/2008-9, 300982/2009-7, 304678/2012-0]
dc.languageen
dc.publisherKarger
dc.publisherBasel
dc.publisherSuíça
dc.relationHormone Research In Paediatrics
dc.relationHorm. Res. Paediatr.
dc.rightsfechado
dc.rightshttp://www.karger.com/Services/RightsPermissions
dc.sourceWeb of Science
dc.subjectSHOX gene
dc.subjectTurner syndrome
dc.subjectIdiopathic short stature
dc.subjectLeri-Weill dyschondrosteosis
dc.subjectLeri-weill Dyschondrosteosis
dc.subjectIdiopathic Short Stature
dc.subjectHomeobox Gene Shox
dc.subjectTurner-syndrome
dc.subjectDisproportionate Growth
dc.subjectBody Proportions
dc.subjectHaploinsufficiency
dc.subjectDeficiency
dc.subjectHeight
dc.subjectPhenotypes
dc.titleThe Sitting Height/Height Ratio for Age in Healthy and Short Individuals and Its Potential Role in Selecting Short Children for SHOX Analysis
dc.typeArtículos de revistas


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