Genetic disorders in the growth hormone - insulin-like growth factor-I axis.
Horm Res
; 66(5): 221-30, 2006.
Article
en En
| MEDLINE
| ID: mdl-16917171
In the last few years, our knowledge of genetically determined causes of short stature has greatly increased by reports of challenging patients, who offered the opportunity to study genes that play a role in growth. Since the first paper that showed the etiology of Laron syndrome [Godowski PJ, et al: Proc Natl Acad Sci USA 1989;86:8083-8087], many mutations in the growth hormone (GH) receptor have been identified. Recently, new mutations or deletions have been found in several components of the GH-insulin-like growth factor-I (IGF-I) axis: a homozygous mutation of the GH1 gene, resulting in a bio-inactive GH; mutations in the STAT5b gene, which plays a major role in the GH signal transduction; a homozygous missense mutation in the IGF-I gene; heterozygous mutations in the IGF-I receptor gene and a homozygous deletion of the acid-labile subunit gene. In this mini review, we describe the clinical and biochemical features of these genetic defects. Genetic analysis has become essential in the diagnostic workup of a patient with short stature. However, regarding the time consuming nature of molecular analysis, it is important to carefully select the patient for specific genetic evaluation. To help in this selection process, we developed flowcharts, based on the recently described patients, that can be used as guidelines in the diagnostic process of patients with severe short stature of unknown origin.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Factor I del Crecimiento Similar a la Insulina
/
Receptor IGF Tipo 1
/
Hormona de Crecimiento Humana
/
Síndrome de Laron
/
Mutación
Tipo de estudio:
Guideline
/
Prognostic_studies
Límite:
Humans
Idioma:
En
Revista:
Horm Res
Año:
2006
Tipo del documento:
Article
País de afiliación:
Países Bajos
Pais de publicación:
Suiza