Aim of the study is to study the influence of GH receptor polymorfisms on the effects of growth hormone substitution in aduts with GH deficiency.
ID
Source
Brief title
Condition
- Hypothalamus and pituitary gland disorders
Synonym
Research involving
Sponsors and support
Intervention
Outcome measures
Primary outcome
1. The prevalence of the GH receptor polymorfisms.
2. The interactions of efficacy of GH substitution with GH receptor
polymorfisms.
Secondary outcome
Not applicable.
Background summary
Growth hormone (GH) substitution in adults with GH deficiency has beneficial
effects on bone mineral density, body composition, cardiovascular parameters,
and quality of life. Recently, a polymorfism in the GH receptor (d3-GHR, a
genomic deletion of exon 3) has been described, which affects the growth
velocity after start of growth hormone substitution. Patients with this
polymorfism have a higher growth velocity. The binding of GH to the receptor is
unchanged in the polymorfism, but signal transduction seems to be enhanced. The
allel-prevalence of this polymorfism is 25 to 32% with an hymozygous frequency
of 9 to 14%.
Study objective
Aim of the study is to study the influence of GH receptor polymorfisms on the
effects of growth hormone substitution in aduts with GH deficiency.
Study design
This is a cross-sectional study.
Study burden and risks
Patients will be invided to participate in 1 visit of approximately 30 minutes.
Blood will be drawn at that occassion.
Albinusdreef 2
2333 ZA Leiden
Nederland
Albinusdreef 2
2333 ZA Leiden
Nederland
Listed location countries
Age
Inclusion criteria
- Informed consent
- All patients with growth hormone deficiency who have been treated with growth hormone substitution for at least one year
Exclusion criteria
- Known pathogenic mutations in the growth hormone receptor that caused growth hormone deficiency.
Design
Recruitment
Followed up by the following (possibly more current) registration
No registrations found.
Other (possibly less up-to-date) registrations in this register
No registrations found.
In other registers
| Register | ID |
|---|---|
| CCMO | NL14536.058.06 |