Growth hormone deficiency risk factors: Difference between revisions
Jump to navigation
Jump to search
No edit summary |
|||
| Line 11: | Line 11: | ||
==== '''[[Laron syndrome|Growth hormone insensitivity]]''' ==== | ==== '''[[Laron syndrome|Growth hormone insensitivity]]''' ==== | ||
* [[Growth hormone insensitivity syndrome|Growth hormone insensitivity]] is an absence of the effects of [[growth hormone]] despite a normal production of [[Growth hormone|GH]].< | * [[Growth hormone insensitivity syndrome|Growth hormone insensitivity]] is an absence of the effects of [[growth hormone]] despite a normal production of [[Growth hormone|GH]].<ref>[[Growth hormone deficiency causes#cite note-pmid26062520-13|[13]]]<ref> | ||
* It is caused by [[mutations]] in the [[growth hormone receptor]] [[gene]] which affects the GH-binding of the [[receptor]]. | * 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 1|insulin-like growth factor-binding protein]] 3 (IGFBP-3) levels. | * Its severity correlates to [[IGF-I]] and [[Insulin-like growth factor-binding protein 1|insulin-like growth factor-binding protein]] 3 (IGFBP-3) levels. | ||
==== ''POU1F1'' gene mutations ==== | ==== ''POU1F1'' gene mutations ==== | ||
* It is the most common known genetic cause of the combined [[Pituitary gland|pituitary]] hormone deficiency.< | * It is the most common known genetic cause of the combined [[Pituitary gland|pituitary]] hormone deficiency.<ref>[[Growth hormone deficiency pathophysiology#cite note-pmid26608600-4|[4]]]<ref> | ||
* It is responsible for [[Pituitary gland|pituitary]]-specific [[Transcription (genetics)|transcription]] of [[Gene|genes]] for GH, [[prolactin]], [[thyrotropin]], and the [[Growth hormone releasing hormone|growth hormone-releasing hormone]] ([[GHRH]]) receptor.< | * It is responsible for [[Pituitary gland|pituitary]]-specific [[Transcription (genetics)|transcription]] of [[Gene|genes]] for GH, [[prolactin]], [[thyrotropin]], and the [[Growth hormone releasing hormone|growth hormone-releasing hormone]] ([[GHRH]]) receptor.<ref>[[Growth hormone deficiency pathophysiology#cite note-pmid1977085-5|[5]]]<ref> | ||
* ''PROP1'' [[mutations]] result in failure to activate ''POU1F1/Pit1'' [[gene expression]] and probably cause [[Pituitary gland|pituitary]] hypoplasia.< | * ''PROP1'' [[mutations]] result in failure to activate ''POU1F1/Pit1'' [[gene expression]] and probably cause [[Pituitary gland|pituitary]] hypoplasia.<ref>[[Growth hormone deficiency pathophysiology#cite note-pmid9462743-6|[6]]]<ref> | ||
==== GH1 gene mutations ==== | ==== GH1 gene mutations ==== | ||
| Line 25: | Line 25: | ||
==== Syndrome of bioinactive GH ==== | ==== 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 1|insulin-like growth factor I]] concentrations.< | * Bioinactive GH has the main symptoms and signs of isolated GHD with normal basal GH levels and low [[Insulin-like growth factor 1|insulin-like growth factor I]] concentrations.<ref>[[Growth hormone deficiency pathophysiology#cite note-pmid15713716-7|[7]]]<ref> | ||
==== '''GH receptor signal [[transduction]]''' ==== | ==== '''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 [[Growth hormone|GH]].< | * It is essential for normal signaling of the GH receptor. Mutations in the gene encoding signal transducer decrease the response of receptors to [[Growth hormone|GH]].<ref>[[Growth hormone deficiency pathophysiology#cite note-pmid17389811-8|[8]]]<ref> | ||
==== [[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.< | * Mutations in the gene encoding [[Insulin-like growth factor-I|IGF-I]] cause a unique syndrome of GHD.<ref>[[Growth hormone deficiency pathophysiology#cite note-pmid24243634-9|[9]]]<ref><ref>[[Growth hormone deficiency pathophysiology#cite note-pmid22309212-11|[11]]]<ref> | ||
* 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]]. | ||
==== '''Defective stabilization of circulating [[Insulin-like growth factor-I|IGF-I]]''' ==== | ==== '''Defective stabilization of circulating [[Insulin-like growth factor-I|IGF-I]]''' ==== | ||
* 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.< | * [[Mutations]] in the [[gene]] coding for it causes less stable and subsequently less effect.<ref>[[Growth hormone deficiency pathophysiology#cite note-pmid19729943-10|[10]]]<ref> | ||
==References== | ==References== | ||
Revision as of 21:49, 11 October 2017
|
Growth hormone deficiency Microchapters |
|
Differentiating Growth hormone deficiency from other Diseases |
|---|
|
Diagnosis |
|
Treatment |
|
Case Studies |
|
Growth hormone deficiency risk factors On the Web |
|
American Roentgen Ray Society Images of Growth hormone deficiency risk factors |
|
Risk calculators and risk factors for Growth hormone deficiency risk factors |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
Overview
The risk factors for growth hormone deficiency is due to the mutations involving the POU1F1 gene, GH1 gene, IGF-I gene. GH receptor signal transduction, syndrome of bioinactive GH and growth hormone insensitivity.
Risk Factors
Genetics
Growth hormone insensitivity
- Growth hormone insensitivity is an absence of the effects of growth hormone despite a normal production of GH.<ref>[13]<ref>
- 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.<ref>[4]<ref>
- It is responsible for pituitary-specific transcription of genes for GH, prolactin, thyrotropin, and the growth hormone-releasing hormone (GHRH) receptor.<ref>[5]<ref>
- PROP1 mutations result in failure to activate POU1F1/Pit1 gene expression and probably cause pituitary hypoplasia.<ref>[6]<ref>
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.<ref>[7]<ref>
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.<ref>[8]<ref>
IGF-I gene mutations
- Mutations in the gene encoding IGF-I cause a unique syndrome of GHD.<ref>[9]<ref><ref>[11]<ref>
- 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.<ref>[10]<ref>