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Radiological features in patients with short stature homeobox-containing (SHOX) gene deficiency and turner syndrome before and after 2 years of GH treatment

<b><i>Background/Aims:</i></b> The short stature homeobox-containing <i>(SHOX)</i> gene is one of many genes that regulate longitudinal growth. The SHOX deficiency (SHOX-D) phenotype, caused by intragenic or regulatory region defects, ranges from normal stature to...

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Main Authors: Child, Christopher J. (Author) , Kalifa, Gabriel (Author) , Jones, Christine (Author) , Ross, Judith L. (Author) , Rappold, Gudrun (Author) , Quigley, Charmian A. (Author) , Zimmermann, Alan G. (Author) , Garding, Gina (Author) , Jr, Gordon B. Cutler (Author) , Blum, Werner F. (Author)
Format: Article (Journal)
Language:English
Published: May 6, 2015
In: Hormone research in paediatrics
Year: 2015, Volume: 84, Issue: 1, Pages: 14-25
ISSN:1663-2826
DOI:10.1159/000381712
Online Access:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1159/000381712
Verlag, lizenzpflichtig, Volltext: https://www.karger.com/Article/FullText/381712
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Author Notes:Christopher J. Child, Gabriel Kalifa, Christine Jones, Judith L. Ross, Gudrun A. Rappold, Charmian A. Quigley, Alan G. Zimmermann, Gina Garding, Gordon B. Cutler Jr, Werner F. Blum
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Summary:<b><i>Background/Aims:</i></b> The short stature homeobox-containing <i>(SHOX)</i> gene is one of many genes that regulate longitudinal growth. The SHOX deficiency (SHOX-D) phenotype, caused by intragenic or regulatory region defects, ranges from normal stature to mesomelic skeletal dysplasia. We investigated differences in radiological anomalies between patients with SHOX-D and Turner syndrome (TS) and the effect of 2 years of growth hormone (GH) treatment on these anomalies. <b><i>Methods:</i></b> Left hand/wrist, forearm and lower leg radiographs were assessed at baseline and after 2 years in children with genetically confirmed SHOX-D (GH-treated and untreated groups) and TS (GH-treated) in a randomised, controlled, multinational study. <b><i>Results:</i></b> Radiological anomalies of hand, wrist and forearm were common in SHOX-D and TS. Radial bowing appeared more prevalent in SHOX-D, while lower leg anomalies were more common in TS. There were no significant differences in radiological findings between GH-treated and untreated patients with SHOX-D after 2 years. <b><i>Conclusion:</i></b> GH treatment had no systematic effect on skeletal findings in SHOX-D, based on limited radiological differences between the GH-treated and untreated groups at 2 years. Bone age radiographs allow assessment of radiological signs indicating a potential diagnosis of SHOX-D and may lead to earlier genetic confirmation and initiation of GH therapy.
Item Description:Gesehen am 16.11.2020
Physical Description:Online Resource
ISSN:1663-2826
DOI:10.1159/000381712

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