info:eu-repo/semantics/article
Genetic Mutations in the GH/IGF Axis
Fecha
2018-09Registro en:
Domene, Sabina; Domene, Horacio Mario; Genetic Mutations in the GH/IGF Axis; Medical Media; Pediatric Endocrinology Reviews; 16; Supl.1; 9-2018; 82-105
1565-4753
CONICET Digital
CONICET
Autor
Domene, Sabina
Domene, Horacio Mario
Resumen
The GH/IGF axis plays an important role in the control of pre and postnatal growth. At least 48 monogenic defects have been described affecting the production, secretion, and action of GH and IGFs. Molecular defects of the GH/IGF axis resulting in short stature were arbitrarily classified into 4 groups: 1. Combined pituitary hormone deficiency (CPHD) (a. syndromic CPHD and b. non-syndromic CPHD), 2. Isolated GH deficiency (IGHD), 3. GH insensitivity, and 4. IGF-I insensitivity. Genetic diagnosis is obtained in about 30-40% of children with growth retardation, severe IGHD, CPHD, apparent GH or IGF-I insensitivity, and small for gestational age. Increased accessibility to next generation sequencing (NGS) techniques resulted in a significant number of likely pathogenic variants in genes previously associated with short stature as well as in completely novel genes. Functional in vitro assays and in vivo animal models are required to determine the real contribution of these findings.