Genetics of GHRH, GHRH-receptor, GH and GH-receptor: its impact on pharmacogenetics

Mullis, ; Primus, E (2011). Genetics of GHRH, GHRH-receptor, GH and GH-receptor: its impact on pharmacogenetics. Best practice & research - clinical endocrinology & metabolism, 25(1), pp. 25-41. London: Baillière Tindall 10.1016/j.beem.2010.06.006

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When a child is not following the normal, predicted growth curve, an evaluation for underlying illnesses and central nervous system abnormalities is required and, appropriate consideration should be given to genetic defects causing GH deficiency (GHD). Because Insulin-like-Growth Factor-I (IGF-I) plays a pivotal role, GHD could also be considered as a form of IGF-I deficiency (IGFD). Although IGFD can develop at any level of the GHRH-GH-IGF axis, a differentiation should be made between GHD (absent to low GH in circulation) and IGFD (normal to high GH in circulation). The main focus of this review is on the GH-gene, the various gene alterations and their possible impact on the pituitary gland. However, although transcription factors regulating the pituitary gland development may cause multiple pituitary hormone deficiency they may present initially as GHD. These defects are discussed in various different chapters within this book, whereas, the impact of alterations of the GHRH-, GHRH-receptor- --as well as the GH-receptor (GHR) gene--will be discussed here.

Item Type:	Journal Article (Further Contribution)
Division/Institute:	04 Faculty of Medicine > Department of Gynaecology, Paediatrics and Endocrinology (DFKE) > Clinic of Paediatric Medicine
UniBE Contributor:	Mullis, Primus-Eugen
ISSN:	1521-690X
Publisher:	Baillière Tindall
Language:	English
Submitter:	Anette van Dorland
Date Deposited:	04 Oct 2013 14:24
Last Modified:	05 Dec 2022 14:07
Publisher DOI:	10.1016/j.beem.2010.06.006
PubMed ID:	21396573
Web of Science ID:	000289320500004
URI:	https://boris.unibe.ch/id/eprint/8455 (FactScience: 214005)