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(Referência obtida automaticamente do Web of Science, por meio da informação sobre o financiamento pela FAPESP e o número do processo correspondente, incluída na publicação pelos autores.)

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

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Autor(es):
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Malaquias, Alexsandra C. [1, 2] ; Scalco, Renata C. [1, 2] ; Fontenele, Eveline G. P. [3] ; Costalonga, Everlayny F. [4] ; Baldin, Alexandre D. [5] ; Braz, Adriana F. [1, 2] ; Funari, Mariana F. A. [2] ; Nishi, Mirian Y. [2] ; Guerra-Junior, Gil [5] ; Mendonca, Berenice B. [2] ; Arnhold, Ivo J. P. [2] ; Jorge, Alexander A. L. [1, 2]
Número total de Autores: 12
Afiliação do(s) autor(es):
[1] Univ Sao Paulo, Fac Med, Disciplina Endocrinol, Unidade Endocrinol Genet, LIM 25, Sao Paulo - Brazil
[2] Univ Sao Paulo, Fac Med, Hosp Clin, Lab Hormonios & Genet Mol, Unidade Endocrinol Desenvolvimento, LIM 42, Sao Paulo - Brazil
[3] Univ Fed Ceara, Fac Med, Unidade Farmacol Clin, Serv Endocrinol Diabet, HUWC UFC, Fortaleza, Ceara - Brazil
[4] Univ Vila Velha, Programa Pos Grad Ciencias Farmaceut, Vila Velha - Brazil
[5] Univ Estadual Campinas, UNICAMP, Fac Ciencias Med, Lab Crescimento & Composicao Corporal, Ctr Invest, Campinas - Brazil
Número total de Afiliações: 5
Tipo de documento: Artigo Científico
Fonte: Hormone Research in Paediatrics; v. 80, n. 6, p. 449-456, 2013.
Citações Web of Science: 27
Resumo

Aims: 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 (AU)

Processo FAPESP: 13/03236-5 - Novas abordagens e metodologias na investigação genético-molecular dos distúrbios de crescimento e desenvolvimento puberal
Beneficiário:Alexander Augusto de Lima Jorge
Linha de fomento: Auxílio à Pesquisa - Temático
Processo FAPESP: 08/50184-2 - Determinantes genéticos na Síndrome de Noonan e síndromes Noonan-like: investigação clínica e molecular
Beneficiário:Débora Romeo Bertola
Linha de fomento: Auxílio à Pesquisa - Regular
Processo FAPESP: 07/59555-0 - Estudo da relação genótipo: fenótipo na síndrome de Noonan em pacientes com mutações identificadas nos genes PTPN11, RAF1, SOS1 e KRAS
Beneficiário:Alexsandra Christianne Malaquias de Moura Ribeiro
Linha de fomento: Bolsas no Brasil - Doutorado