Genetics of Growth Hormone Deficiency
Journal Title: Journal of Clinical Research in Pediatric Endocrinology - Year 2009, Vol 1, Issue 1
Abstract
From the initiation of the primordium to the expression of mature growth hormone (GH)1 gene, a variety of genes, transcription factors, signalling pathways, and epigenetic control factors take part in the embryological development of the anterior hypophyseal somatotrophic cells. A defect in this process may result in multiple pituitary deficiency or isolated growth hormone deficiency depending on the temporal or spatial position of the individual factor. This article reviews these factors in a chronological order. This review presents some of these genetic mutations that result in obesity. DOI: 10.4008/jcrpe.v1i1.30
Authors and Affiliations
Ali Topaloğlu
Growth Hormone Action: growth hormone receptor, growth and metabolic effects
Growth hormone (GH) therapy has been very successful in patients with GH deficiency in promoting short and long term growth. GH is being used not only in GH deficiency but also in several non GH deficient conditions. The...
Diagnosis of Diseases of Steroid Hormone Production, Metabolism and Action
Biochemical tests have been the basis for investigations of disorders affecting steroid hormones. In recent years it has been possible however to study the genes that determine functional enzymes, cofactors, receptors, t...
Controversies in the Definition and Treatment of Idiopathic Short Stature (ISS)
The term idiopathic short stature (ISS) refers to short children with no identifiable disorder of the growth hormone (GH)/insulin like growth factor (IGF) axis and no other endocrine, genetic or organ system disorder. Th...
Genetics of Obesity
The genetic basis of predispositon to obesity has been recognised for a long time. Several single gene-defects in rodents and humans cause the development of obesity. However these are extremely rare and an increase in g...
Genetics of Growth Hormone Deficiency
From the initiation of the primordium to the expression of mature growth hormone (GH)1 gene, a variety of genes, transcription factors, signalling pathways, and epigenetic control factors take part in the embryological d...