SHOX deficiency in children with growth impairment: evaluation of known and new auxological and radiological indicators
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RESEARCH
Open Access
SHOX deficiency in children with growth impairment: evaluation of known and new auxological and radiological indicators Silvia Vannelli1,2* , Maria Baffico3, Raffaele Buganza1,2,4, Francesca Verna1,2, Giulia Vinci1,2, Daniele Tessaris1,2, Gianpaolo Di Rosa5, Alberto Borraccino2 and Luisa de Sanctis1,2
Abstract Background: 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. Methods: Molecular 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. Results: SHOX 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 . Conclusions: In 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. Keywords: SHOX, Growth impairment, Convexity of distal radial metaphysis
Background The defect of the short-stature homeobox-containing (SHOX) gene, located on the pseudoautosomal region (PAR1) of the X and Y chromosomes, is the most frequent cause of monogenic short stature [1, 2]. SHOX is involved in pre- and postnatal skeletal development as it regulates the differentiation and apoptosis of chondrocytes in the epiphyseal growth plate [1, 3]. SHOX deficiency (SHOXD) causes short stature with a highly variable phenotype, * Correspondence: [email protected] 1 Pediatric Endocrinology, Regina Margherita Children’s Hospital, Turin, Italy 2 Department of Public Health and Pediatric Sciences, University of Turin, Turin, Italy Full list of author information is available at the end of the article
ranging from an extreme dwarfism, with mesomelia and limb deformity as seen in Langer syndrome (caused by two defective or absent SHOX alleles) to a disproportionate short stature with mesomelia known as Léri–Weill dyschondrosteosis (caused by defective or loss of a single SHOX allele), to apparently idiopathic short stature (ISS) with no other obvious clinical signs [4]. The frequently mild phenotypic expression renders difficult to define when to proceed with SHOX molecular analysis in children with growth impairment. The selection should be driven by specific anthropometric measurements, family history, presence of dy
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