Article
Phenotype: genotype relationships in growth hormone insensitivity syndrome.
The Journal of clinical endocrinology and metabolism - 1 Nov 1997
Woods K A, Dastot F, Preece M A, Clark A J, Postel-Vinay M C, Chatelain P G, Ranke M B, Rosenfeld R G, Amselem S, Savage M O
Abstract excerpt
GH insensitivity syndrome (GHIS) is associated with many different mutations of the GH receptor (GHR) gene. We examined the phenotypic and biochemical features in 82 GHIS patients from 23 countries, each fulfilling diagnostic criteria of GHIS. There were 45 males and 37 females [mean age, 8.25 yr...
Topics
- Adolescent
- Adult
- Body Height
- Carrier Proteins
- Child
- Child, Preschool
- Female
- Genotype
- Growth Disorders
- Heterozygote
- Homozygote
- Human Growth Hormone
- Humans
- Hypoglycemia
- Infant
- Insulin-Like Growth Factor Binding Protein 1
- Insulin-Like Growth Factor Binding Protein 3
- Insulin-Like Growth Factor I