Radiological Features in Patients with Short Stature Homeobox-Containing (SHOX) Gene Deficiency and Turner Syndrome before and after 2 Years of GH Treatment.
Horm Res Paediatr
; 84(1): 14-25, 2015.
Article
en En
| MEDLINE
| ID: mdl-25967354
ABSTRACT
BACKGROUND/AIMS:
The short stature homeobox-containing (SHOX) 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.METHODS:
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.RESULTS:
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.CONCLUSION:
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.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Radio (Anatomía)
/
Síndrome de Turner
/
Proteínas de Homeodominio
/
Hormona de Crecimiento Humana
Tipo de estudio:
Clinical_trials
/
Diagnostic_studies
Límite:
Child
/
Child, preschool
/
Humans
Idioma:
En
Revista:
Horm Res Paediatr
Asunto de la revista:
ENDOCRINOLOGIA
/
PEDIATRIA
Año:
2015
Tipo del documento:
Article
País de afiliación:
Reino Unido
Pais de publicación:
CH
/
SUIZA
/
SUÍÇA
/
SWITZERLAND