Genetic defects in GH synthesis and secretion.
Growth hormone (GH) is a multifunctional hormone produced in the anterior pituitary that promotes postnatal growth of skeletal and soft tissues. GH secretion and release are complex phenomena depending on several intrinsic and extrinsic factors modulating the release of two hypothalamic hormones, GH releasing hormone and somatostatin. Any genetic or acquired disorder that impairs GH secretion or action causes a pathological phenotype characterized by harmonic short stature with isolated GH deficiency (IGHD) or combined pituitary hormone deficiency (CPHD). In this article we report current knowledge about the genetic basis of IGHD and CPHD.
Bona
G
G
Clinica Pediatrica, Dipartimento di Scienze Mediche, Universita del Piemonte Orientale 'Amedeo Avogadro', Corso Mazzini 18, 28100 Novara, Italy. gianni.bona@maggioreosp.novara.it
Paracchini
R
R
Giordano
M
M
Momigliano-Richiardi
P
P
D006130:Growth Disorders / Q000235:genetics*; D019382:Human Growth Hormone / Q000235:genetics*; D006801:Humans; D009154:Mutation; D010908:Pituitary Hormones, Anterior / Q000172:deficiency*
D010908:Pituitary Hormones, Anterior; D019382:Human Growth Hormone