Genetic studies in idiopathic short stature.
Curr Opin Pediatr
; 12(4): 400-4, 2000 Aug.
Article
em En
| MEDLINE
| ID: mdl-10943824
Idiopathic short stature (ISS) refers to a heterogeneous group of children with marked growth failure of unknown cause, and encompasses familial short stature and constitutional delay of growth. It has been postulated that specific genetic mutations may explain certain cases of growth failure. Some patients with growth hormone (GH) deficiency have mutations in the GH-releasing hormone receptor or GH gene, whereas patients with GH insensitivity syndrome have mutations in the GH receptor or insulin-like growth factor-I gene. It appears that heterozygous mutations of the GH receptor may cause partial GH insensitivity in a subset of patients with ISS. Defects in the short stature homeobox-containing gene (SHOX) in the pseudoautosomal region of the sex chromosomes may cause the growth failure seen in the Leri-Weill and Turner syndromes, and in some familial cases of ISS. Further research into stature-related genes will likely contribute to our understanding of this population.
Buscar no Google
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Estatura
/
Hormônio do Crescimento Humano
/
Transtornos do Crescimento
Limite:
Female
/
Humans
/
Male
Idioma:
En
Revista:
Curr Opin Pediatr
Assunto da revista:
PEDIATRIA
Ano de publicação:
2000
Tipo de documento:
Article
País de afiliação:
Estados Unidos