Abstract
Background/Aims: Over the last decade, multiple molecular defects of the GH-IGF axis have been identified and characterized, greatly expanding our appreciation of the genotypic and phenotypic variability of endocrine growth disorders. Methods: In an effort to address the growing complexity of molecular defects and their characteristic phenotypes, a Growth Genetics Consortium was established in 2008, with the goal of developing a repository of case information on all patients with genetic variations in the GH-IGF axis. A database was established, along with a publicly accessible website (www.growthgenetics.com), with registration open to all potential users. Results: The genes currently available in the database include GHR, Stat5b, IGF1, IGF2, IGFALS and IGF1R. The data collected include clinical details, auxology, family history, laboratory data, identified molecular defects and, if relevant, treatment information. Conclusions: It is planned for the database and website to eventually include all identified genes in the GH-IGF axis.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 443-448 |
| Number of pages | 6 |
| Journal | Hormone Research in Paediatrics |
| Volume | 80 |
| Issue number | 6 |
| DOIs | |
| State | Published - Jan 2014 |
| Externally published | Yes |
Keywords
- Database
- GH-IGF axis
- Genetic variations
- Molecular defects
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
- Endocrinology, Diabetes and Metabolism
- Endocrinology