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Genetic defects in GH synthesis and secretion
Author(s) -
Gianni Bona,
R. Paracchini,
Mara Giordano,
Patricia MomiglianoRichiardi
Publication year - 2004
Publication title -
european journal of endocrinology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.897
H-Index - 148
eISSN - 1479-683X
pISSN - 0804-4643
DOI - 10.1530/eje.0.151s003
Subject(s) - ighd , endocrinology , medicine , hormone , somatostatin , short stature , secretion , anterior pituitary , biology , somatotropic cell , growth hormone , growth hormone deficiency
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.

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