In:
Hormone Research in Paediatrics, S. Karger AG, Vol. 80, No. 6 ( 2013), p. 449-456
Abstract:
〈 b 〉 〈 i 〉 Aims: 〈 /i 〉 〈 /b 〉 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 〈 i 〉 SHOX 〈 /i 〉 analysis. 〈 b 〉 〈 i 〉 Methods: 〈 /i 〉 〈 /b 〉 Height, sitting height and weight were evaluated in 1,771 healthy children, 128 children with idiopathic short stature (ISS), 58 individuals with 〈 i 〉 SHOX 〈 /i 〉 defects (SHOX-D) and 193 females with Turner syndrome (TS). 〈 b 〉 〈 i 〉 Results: 〈 /i 〉 〈 /b 〉 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 〈 i 〉 SHOX 〈 /i 〉 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. 〈 b 〉 〈 i 〉 Conclusion: 〈 /i 〉 〈 /b 〉 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 〈 i 〉 SHOX 〈 /i 〉 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 〈 i 〉 SHOX 〈 /i 〉 molecular studies.
Type of Medium:
Online Resource
ISSN:
1663-2818
,
1663-2826
Language:
English
Publisher:
S. Karger AG
Publication Date:
2013
detail.hit.zdb_id:
2540224-9
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