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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| Hauptverfasser: | , , , , , , , , , |
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| Dokumenttyp: | Article (Journal) |
| Sprache: | Englisch |
| Veröffentlicht: |
May 6, 2015
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| In: |
Hormone research in paediatrics
Year: 2015, Jahrgang: 84, Heft: 1, Pages: 14-25 |
| ISSN: | 1663-2826 |
| DOI: | 10.1159/000381712 |
| Online-Zugang: | Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1159/000381712 Verlag, lizenzpflichtig, Volltext: https://www.karger.com/Article/FullText/381712 
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| Verfasserangaben: | 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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| 245 | 1 | 0 | |a Radiological features in patients with short stature homeobox-containing (SHOX) gene deficiency and turner syndrome before and after 2 years of GH treatment |c 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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| 520 | |a <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. | ||
| 700 | 1 | |a Kalifa, Gabriel |e VerfasserIn |4 aut | |
| 700 | 1 | |a Jones, Christine |e VerfasserIn |4 aut | |
| 700 | 1 | |a Ross, Judith L. |e VerfasserIn |4 aut | |
| 700 | 1 | |a Rappold, Gudrun |d 1954- |e VerfasserIn |0 (DE-588)102028319X |0 (DE-627)691169594 |0 (DE-576)359985947 |4 aut | |
| 700 | 1 | |a Quigley, Charmian A. |e VerfasserIn |4 aut | |
| 700 | 1 | |a Zimmermann, Alan G. |e VerfasserIn |4 aut | |
| 700 | 1 | |a Garding, Gina |e VerfasserIn |4 aut | |
| 700 | 1 | |a Jr, Gordon B. Cutler |e VerfasserIn |4 aut | |
| 700 | 1 | |a Blum, Werner F. |e VerfasserIn |4 aut | |
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