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(Reference retrieved automatically from Web of Science through information on FAPESP grant and its corresponding number as mentioned in the publication by the authors.)

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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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]
Total Authors: 12
[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
Total Affiliations: 5
Document type: Journal article
Source: Hormone Research in Paediatrics; v. 80, n. 6, p. 449-456, 2013.
Web of Science Citations: 29

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)

FAPESP's process: 13/03236-5 - New approaches and methodologies in molecular-genetic studies of growth and pubertal development disorders
Grantee:Alexander Augusto de Lima Jorge
Support type: Research Projects - Thematic Grants