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SHOX gene variants: growth hormone/insulin-like growth factor-1 status and response to growth hormone treatment.
- Source :
-
Hormone research in paediatrics [Horm Res Paediatr] 2015; Vol. 83 (1), pp. 26-35. Date of Electronic Publication: 2015 Jan 31. - Publication Year :
- 2015
-
Abstract
- Context: Short stature homeobox-containing gene (SHOX) variants of unknown clinical significance occur frequently among children with short stature, yet their growth hormone (GH)/insulin-like growth factor-1 (IGF-1) status and response to GH have not been studied.<br />Objective: To define GH and IGF-1 status in children with SHOX variants and assess their response to GH.<br />Patients and Methods: This is a retrospective review of children with short stature. Children with SHOX variants were compared to those with no variants. Height standard deviation scores (SDS) and IGF-1 SDS at baseline and during GH treatment at 6, 12, and 24 months were analyzed. Growth velocity (GV), maximum GH dose, IGF-BP3, and changes in height SDS, IGF-1 SDS, and GV were compared.<br />Results: Among 355 children, 83 (23%) had SHOX variants. Nineteen different SHOX variants were detected. There was no difference in age, height SDS, IGF-1 SDS, or IGF-BP3 between children with SHOX variants and those with normal SHOX. Height SDS, IGF-1 SDS, IGF-BP3, GV, and GH dose were not different between patients with SHOX variants and those without.<br />Conclusions: The GH and IGF-1 characteristics of children with short stature were not different between children with SHOX+ variants and children with no variants. Although these findings suggest that SHOX variants are polymorphisms, studies prospectively comparing individual SHOX variants are needed.<br /> (© 2015 S. Karger AG, Basel.)
- Subjects :
- Adolescent
Body Height drug effects
Child
Child, Preschool
Female
Growth Disorders drug therapy
Hormone Replacement Therapy
Human Growth Hormone pharmacology
Human Growth Hormone therapeutic use
Humans
Male
Retrospective Studies
Short Stature Homeobox Protein
Treatment Outcome
Body Height genetics
Growth Disorders genetics
Homeodomain Proteins genetics
Human Growth Hormone blood
Insulin-Like Growth Factor I metabolism
Subjects
Details
- Language :
- English
- ISSN :
- 1663-2826
- Volume :
- 83
- Issue :
- 1
- Database :
- MEDLINE
- Journal :
- Hormone research in paediatrics
- Publication Type :
- Academic Journal
- Accession number :
- 25659810
- Full Text :
- https://doi.org/10.1159/000365507