title: The sitting height/height ratio for age in healthy and short individuals and its potential role in selecting short children for SHOX analysis.
abstract: OBJECTIVE
  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.
  
  
  CONCLUSIONS
  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.affiliation: Unidade de Endocrinologia-Genetica, LIM/25, Disciplina de Endocrinologia da Faculdade de Medicina da Universidade de Sao Paulo (FMUSP), Hospital das Clinicas da Faculdade de Medicina da Universidade de Sao Paulo, Sao Paulo, Brazil.
authors.forename: Alexsandra C
authors.initials: AC
authors.lastname: Malaquias
authors.forename: Renata C
authors.initials: RC
authors.lastname: Scalco
authors.forename: Eveline G P
authors.initials: EG
authors.lastname: Fontenele
authors.forename: Everlayny F
authors.initials: EF
authors.lastname: Costalonga
authors.forename: Alexandre D
authors.initials: AD
authors.lastname: Baldin
authors.forename: Adriana F
authors.initials: AF
authors.lastname: Braz
authors.forename: Mariana F A
authors.initials: MF
authors.lastname: Funari
authors.forename: Mirian Y
authors.initials: MY
authors.lastname: Nishi
authors.forename: Gil
authors.initials: G
authors.lastname: Guerra-Junior
authors.forename: Berenice B
authors.initials: BB
authors.lastname: Mendonca
authors.forename: Ivo J P
authors.initials: IJ
authors.lastname: Arnhold
authors.forename: Alexander A L
authors.initials: AA
authors.lastname: Jorge
mesh_terms: D000293:Adolescent; D000328:Adult; D000367:Age Factors; D001827:Body Height; D002648:Child; D002657:Child Development; D003430:Cross-Sectional Studies; D004252:DNA Mutational Analysis; D005260:Female; D006130:Growth Disorders / Q000175:diagnosis* / Q000235:genetics*; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D008297:Male; D018579:Patient Selection; D010641:Phenotype; D011187:Posture; D000074122:Short Stature Homeobox Protein; D014424:Turner Syndrome / Q000235:genetics
chemical_list: D018398:Homeodomain Proteins; C106071:SHOX protein, human; D000074122:Short Stature Homeobox Protein