Journal article
Genetics of growth hormone deficiency.
- Mullis PE Paediatric Endocrinology and Diabetology and Metabolism, University Children's Hospital, University of Berne, Inselspital, CH-3010 Bern, Switzerland. primus.mullis@insel.ch
- 2007-03-06
Published in:
- Endocrinology and metabolism clinics of North America. - 2007
Animals
Dwarfism, Pituitary
Growth Hormone
Humans
Mice
Mice, Transgenic
Mutation
Pituitary Gland
RNA Splice Sites
Secretory Vesicles
Transcription Factors
English
When a child is not following the normal, predicted growth curve, an evaluation for underlying illness and central nervous system abnormalities is required and appropriate consideration should be given to genetic defects causing growth hormone (GH) deficiency. This article focuses on the GH gene, the various gene alterations, and their possible impact on the pituitary gland. Transcription factors regulating pituitary gland development may cause multiple pituitary hormone deficiency but may present initially as GH deficiency. The role of two most important transcription factors, POU1F1 (Pit-1) and PROP 1, is discussed.
- Language
-
- English
- Open access status
- closed
- Identifiers
-
- DOI 10.1016/j.ecl.2006.11.010
- PMID 17336732
- Persistent URL
- https://sonar.ch/global/documents/138438
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