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.
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.
Authors: Renata C Scalco; Vivian Hwa; Horacio M Domené; Héctor G Jasper; Alicia Belgorosky; Roxana Marino; Alberto M Pereira; Carlos A Tonelli; Jan M Wit; Ron G Rosenfeld; Alexander A L Jorge Journal: Eur J Endocrinol Date: 2015-06-01 Impact factor: 6.664
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Authors: Mariana Del Pino; Miriam Aza-Carmona; David Medino-Martín; Abel Gomez; Karen E Heath; Virginia Fano; María Gabriela Obregon Journal: J Pediatr Genet Date: 2019-05-28
Authors: Paulo F Collett-Solberg; Geoffrey Ambler; Philippe F Backeljauw; Martin Bidlingmaier; Beverly M K Biller; Margaret C S Boguszewski; Pik To Cheung; Catherine Seut Yhoke Choong; Laurie E Cohen; Pinchas Cohen; Andrew Dauber; Cheri L Deal; Chunxiu Gong; Yukihiro Hasegawa; Andrew R Hoffman; Paul L Hofman; Reiko Horikawa; Alexander A L Jorge; Anders Juul; Peter Kamenický; Vaman Khadilkar; John J Kopchick; Berit Kriström; Maria de Lurdes A Lopes; Xiaoping Luo; Bradley S Miller; Madhusmita Misra; Irene Netchine; Sally Radovick; Michael B Ranke; Alan D Rogol; Ron G Rosenfeld; Paul Saenger; Jan M Wit; Joachim Woelfle Journal: Horm Res Paediatr Date: 2019-09-12 Impact factor: 2.852