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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]}

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

• 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: 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
• Modalidade de apoio: Bolsas no Brasil - Doutorado
• 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
• Modalidade de apoio: Auxílio à Pesquisa - Temático
• Processo FAPESP: 08/50184-2 - Determinantes geneticos na sindrome de noonan e sindromes noonan-like: investigacao clinica e molecular.
• Beneficiário: Débora Romeo Bertola
• Modalidade de apoio: Auxílio à Pesquisa - Regular