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==== [[Insulin-like growth factor-I|IGF-I]] gene mutations ==== | ==== [[Insulin-like growth factor-I|IGF-I]] gene mutations ==== | ||
* Mutations in the gene encoding [[Insulin-like growth factor-I|IGF-I]] cause a unique syndrome of GHD.<sup>[[Growth hormone deficiency pathophysiology#cite note-pmid24243634-9|[9]]]</sup> | * Mutations in the gene encoding [[Insulin-like growth factor-I|IGF-I]] cause a unique syndrome of GHD.<sup>[[Growth hormone deficiency pathophysiology#cite note-pmid24243634-9|[9]]]</sup><sup>[[Growth hormone deficiency pathophysiology#cite note-pmid22309212-11|[11]]]</sup> | ||
* Patients with [[Insulin-like growth factor-I|IGF-I]] [[Gene mutation|gene mutations]] have prenatal growth failure, [[microcephaly]], significant [[Neurocognitive deficit|neurocognitive deficits]], and [[sensorineural hearing loss]]. | * Patients with [[Insulin-like growth factor-I|IGF-I]] [[Gene mutation|gene mutations]] have prenatal growth failure, [[microcephaly]], significant [[Neurocognitive deficit|neurocognitive deficits]], and [[sensorineural hearing loss]]. | ||
| Line 35: | Line 35: | ||
* Acid-labile subunit is important for the stabilization of the [[Insulin-like growth factor-I|IGF-I]]. | * Acid-labile subunit is important for the stabilization of the [[Insulin-like growth factor-I|IGF-I]]. | ||
* [[Mutations]] in the [[gene]] coding for it causes less stable and subsequently less effect.<sup>[[Growth hormone deficiency pathophysiology#cite note-pmid19729943-10|[10]]]</sup> | * [[Mutations]] in the [[gene]] coding for it causes less stable and subsequently less effect.<sup>[[Growth hormone deficiency pathophysiology#cite note-pmid19729943-10|[10]]]</sup> | ||
==References== | ==References== | ||
Revision as of 21:43, 11 October 2017
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
Overview
Risk Factors
Genetics
Growth hormone insensitivity
- Growth hormone insensitivity is an absence of the effects of growth hormone despite a normal production of GH.[13]
- It is caused by mutations in the growth hormone receptor gene which affects the GH-binding of the receptor.
- Its severity correlates to IGF-I and insulin-like growth factor-binding protein 3 (IGFBP-3) levels.
POU1F1 gene mutations
- It is the most common known genetic cause of the combined pituitary hormone deficiency.[4]
- It is responsible for pituitary-specific transcription of genes for GH, prolactin, thyrotropin, and the growth hormone-releasing hormone (GHRH) receptor.[5]
- PROP1 mutations result in failure to activate POU1F1/Pit1 gene expression and probably cause pituitary hypoplasia.[6]
GH1 gene mutations
- It is GH1 is the gene encoding GH, located on chromosome 17.
- Gene deletions, frameshift mutations, and nonsense mutations of GH1 have been described as causes of familial GHD.
Syndrome of bioinactive GH
- Bioinactive GH has the main symptoms and signs of isolated GHD with normal basal GH levels and low insulin-like growth factor I concentrations.[7]
GH receptor signal transduction
- It is essential for normal signaling of the GH receptor. Mutations in the gene encoding signal transducer decrease the response of receptors to GH.[8]
IGF-I gene mutations
- Mutations in the gene encoding IGF-I cause a unique syndrome of GHD.[9][11]
- Patients with IGF-I gene mutations have prenatal growth failure, microcephaly, significant neurocognitive deficits, and sensorineural hearing loss.
Defective stabilization of circulating IGF-I
- Acid-labile subunit is important for the stabilization of the IGF-I.
- Mutations in the gene coding for it causes less stable and subsequently less effect.[10]