Growth hormone deficiency risk factors: Difference between revisions
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==Overview== | ==Overview== | ||
==Risk Factors== | |||
== | === Genetics === | ||
==== ''POU1F1'' gene mutations ==== | |||
* It is the most common known genetic cause of the combined [[Pituitary gland|pituitary]] hormone deficiency.<sup>[[Growth hormone deficiency pathophysiology#cite note-pmid26608600-4|[4]]]</sup> | |||
* 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.<sup>[[Growth hormone deficiency pathophysiology#cite note-pmid1977085-5|[5]]]</sup> | |||
* ''PROP1'' [[mutations]] result in failure to activate ''POU1F1/Pit1'' [[gene expression]] and probably cause [[Pituitary gland|pituitary]] hypoplasia.<sup>[[Growth hormone deficiency pathophysiology#cite note-pmid9462743-6|[6]]]</sup> | |||
==== GH1 gene mutations ==== | |||
* It is ''GH1'' is the gene encoding GH, located on [[chromosome 17]]. | |||
* [[Gene deletion|Gene deletions]], f[[Frameshift mutation|rameshift]] 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 1|insulin-like growth factor I]] concentrations.<sup>[[Growth hormone deficiency pathophysiology#cite note-pmid15713716-7|[7]]]</sup> | |||
==== '''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]].<sup>[[Growth hormone deficiency pathophysiology#cite note-pmid17389811-8|[8]]]</sup> | |||
==== [[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> | |||
* 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]]''' ==== | |||
* 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> | |||
==== [[Insulin-like growth factor-I|IGF-I]] receptor mutations ==== | |||
* [[Mutations]] in the [[gene]] encoding the receptor for the [[Insulin-like growth factor-I|IGF-I]] result in partial loss of function of the [[Insulin-like growth factor-I|IGF-I]] receptor.<sup>[[Growth hormone deficiency pathophysiology#cite note-pmid22309212-11|[11]]]</sup> | |||
==References== | ==References== | ||
Revision as of 19:32, 27 September 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
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]
- 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]
IGF-I receptor mutations
- Mutations in the gene encoding the receptor for the IGF-I result in partial loss of function of the IGF-I receptor.[11]