Autosomal Dominant Growth Hormone Deficiency (Type II).
Pediatr Endocrinol Rev
; 12(4): 347-55, 2015 Jun.
Article
en En
| MEDLINE
| ID: mdl-26182479
ABSTRACT
Isolated growth hormone deficiency (IGHD) is the commonest pituitary hormone deficiency resulting from congenital or acquired causes, although for most patients its etiology remains unknown. Among the known factors, heterozygous mutations in the growth hormone gene (GH1) lead to the autosomal dominant form of GHD, also known as type II GHD. In many cohorts this is the commonest form of congenital isolated GHD and is mainly caused by mutations that affect the correct splicing of GH-1. These mutations cause skipping of the third exon and lead to the production of a 17.5-kDa GH isoform that exerts a dominant negative effect on the secretion of the wild type GH. The identification of these mutations has clinical implications for the management of patients, as there is a well-documented correlation between the severity of the phenotype and the increased expression of the 17.5-kDa isoform. Patients with type II GHD have a variable height deficit and severity of GHD and may develop additional pituitary hormone defiencies over time, including ACTH, TSH and gonadotropin deficiencies. Therefore, their lifelong follow-up is recommended. Detailed studies on the effect of heterozygous GH1 mutations on the trafficking, secretion and action of growth hormone can elucidate their mechanism on a cellular level and may influence future treatment options for GHD type II.
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Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Enanismo Hipofisario
Tipo de estudio:
Prognostic_studies
Límite:
Humans
Idioma:
En
Revista:
Pediatr Endocrinol Rev
Asunto de la revista:
ENDOCRINOLOGIA
/
PEDIATRIA
Año:
2015
Tipo del documento:
Article