Abstract
BackgroundThe phenotypic features of SHOX deficiency (SHOX-D) are highly variable and can be very mild, especially in young children. The aim of this retrospective study was to evaluate auxological and radiological indicators that could be predictive of SHOX-D in children.MethodsMolecular analysis of the SHOX gene was performed in 296 subjects with growth impairment or skeletal disproportion, without alternative diagnosis. Auxological variables and radiographs of the hand, wrist and forearm were evaluated.ResultsSHOX mutations (88% inherited, 12% de novo) were identified in 52 subjects. The most predictive auxological indicators of SHOX-D were an increased sitting height/height ratio and a decreased arm span/height ratio. The convexity of distal radial metaphysis at X-ray, not yet reported in literature, was also found to be predictive of SHOX-D. In young children, stratification of data by bone age also highlighted ulnar tilt, lucency of the ulnar border of the distal radius and enlarged radius as the radiological signs most related to SHOX-D .ConclusionsIn this study, the analysis of auxological and radiological indicators in SHOX-D children allowed to identify an additional early radiological sign and underlines the importance of family auxological evaluation.
Highlights
The phenotypic features of stature homeobox-containing (SHOX) deficiency (SHOX-D) are highly variable and can be very mild, especially in young children
The prevalence of SHOX deficiency (SHOX-D) was 19.7% in the group of subjects with idiopathic short stature (ISS) (6.7% in children with ISS and normal sitting height/height ratio (SH/H), 28.3% in those with ISS and SH/H > 2 SDS) and 60% in patients with Léri–Weill (LW) phenotype; 88% of variants were inherited from one parent, 22% were de novo
Stratifying the data for bone age (Table 3), in the younger group lucency, ulnar tilt, enlarged diaphysis of the radius, convexity of distal radial metaphysis and the combined criterion of enlarged diaphysis plus bowing of the radius were significantly different between SHOX-D+ and SHOX-D- subjects, while in the older group the difference was significant for triangularization index (TI), ulnar tilt and convexity of distal radial metaphysis
Summary
The phenotypic features of SHOX deficiency (SHOX-D) are highly variable and can be very mild, especially in young children The aim of this retrospective study was to evaluate auxological and radiological indicators that could be predictive of SHOX-D in children. Literature data indicate that recombinant human Growth Hormone (rhGH) treatment improves the growth pattern [9] in SHOX-D, when it is started in early childhood [10]; it becomes essential to reach an early definitive diagnosis to begin an early rhGH treatment The aim of this retrospective study was to evaluate the association between different auxological and radiological indicators and the presence of SHOX haploinsufficiency
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