Growth hormone deficiency risk factors: Difference between revisions
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==== '''[[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 name="pmid26062520">{{cite journal |vauthors=Kurtoğlu S, Hatipoglu N |title=Growth hormone insensitivity: diagnostic and therapeutic approaches |journal=J. Endocrinol. Invest. |volume=39 |issue=1 |pages=19–28 |year=2016 |pmid=26062520 |doi=10.1007/s40618-015-0327-2 |url=}}</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 name="pmid26608600">{{cite journal |vauthors=Ziemnicka K, Budny B, Drobnik K, Baszko-Błaszyk D, Stajgis M, Katulska K, Waśko R, Wrotkowska E, Słomski R, Ruchała M |title=Two coexisting heterozygous frameshift mutations in PROP1 are responsible for a different phenotype of combined pituitary hormone deficiency |journal=J. Appl. Genet. |volume=57 |issue=3 |pages=373–81 |year=2016 |pmid=26608600 |pmc=4963446 |doi=10.1007/s13353-015-0328-z |url=}}</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 name="pmid1977085">{{cite journal |vauthors=Li S, Crenshaw EB, Rawson EJ, Simmons DM, Swanson LW, Rosenfeld MG |title=Dwarf locus mutants lacking three pituitary cell types result from mutations in the POU-domain gene pit-1 |journal=Nature |volume=347 |issue=6293 |pages=528–33 |year=1990 |pmid=1977085 |doi=10.1038/347528a0 |url=}}</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 name="pmid9462743">{{cite journal |vauthors=Wu W, Cogan JD, Pfäffle RW, Dasen JS, Frisch H, O'Connell SM, Flynn SE, Brown MR, Mullis PE, Parks JS, Phillips JA, Rosenfeld MG |title=Mutations in PROP1 cause familial combined pituitary hormone deficiency |journal=Nat. Genet. |volume=18 |issue=2 |pages=147–9 |year=1998 |pmid=9462743 |doi=10.1038/ng0298-147 |url=}}</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 name="pmid15713716">{{cite journal |vauthors=Besson A, Salemi S, Deladoëy J, Vuissoz JM, Eblé A, Bidlingmaier M, Bürgi S, Honegger U, Flück C, Mullis PE |title=Short stature caused by a biologically inactive mutant growth hormone (GH-C53S) |journal=J. Clin. Endocrinol. Metab. |volume=90 |issue=5 |pages=2493–9 |year=2005 |pmid=15713716 |doi=10.1210/jc.2004-1838 |url=}}</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 name="pmid17389811">{{cite journal |vauthors=Hwa V, Camacho-Hübner C, Little BM, David A, Metherell LA, El-Khatib N, Savage MO, Rosenfeld RG |title=Growth hormone insensitivity and severe short stature in siblings: a novel mutation at the exon 13-intron 13 junction of the STAT5b gene |journal=Horm. Res. |volume=68 |issue=5 |pages=218–24 |year=2007 |pmid=17389811 |doi=10.1159/000101334 |url=}}</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 name="pmid22309212">{{cite journal |vauthors=Kawashima Y, Higaki K, Fukushima T, Hakuno F, Nagaishi J, Hanaki K, Nanba E, Takahashi S, Kanzaki S |title=Novel missense mutation in the IGF-I receptor L2 domain results in intrauterine and postnatal growth retardation |journal=Clin. Endocrinol. (Oxf) |volume=77 |issue=2 |pages=246–54 |year=2012 |pmid=22309212 |doi=10.1111/j.1365-2265.2012.04357.x |url=}}</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 name="pmid19729943">{{cite journal |vauthors=Domené HM, Hwa V, Argente J, Wit JM, Wit JM, Camacho-Hübner C, Jasper HG, Pozo J, van Duyvenvoorde HA, Yakar S, Fofanova-Gambetti OV, Rosenfeld RG |title=Human acid-labile subunit deficiency: clinical, endocrine and metabolic consequences |journal=Horm. Res. |volume=72 |issue=3 |pages=129–41 |year=2009 |pmid=19729943 |doi=10.1159/000232486 |url=}}</ref> | ||
==References== | ==References== | ||
Latest revision as of 21:55, 11 October 2017
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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.[1]
- 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.[2]
- It is responsible for pituitary-specific transcription of genes for GH, prolactin, thyrotropin, and the growth hormone-releasing hormone (GHRH) receptor.[3]
- PROP1 mutations result in failure to activate POU1F1/Pit1 gene expression and probably cause pituitary hypoplasia.[4]
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.[5]
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.[6]
IGF-I gene mutations
- Mutations in the gene encoding IGF-I cause a unique syndrome of GHD.[7]
- 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.[8]
References
- ↑ Kurtoğlu S, Hatipoglu N (2016). "Growth hormone insensitivity: diagnostic and therapeutic approaches". J. Endocrinol. Invest. 39 (1): 19–28. doi:10.1007/s40618-015-0327-2. PMID 26062520.
- ↑ Ziemnicka K, Budny B, Drobnik K, Baszko-Błaszyk D, Stajgis M, Katulska K, Waśko R, Wrotkowska E, Słomski R, Ruchała M (2016). "Two coexisting heterozygous frameshift mutations in PROP1 are responsible for a different phenotype of combined pituitary hormone deficiency". J. Appl. Genet. 57 (3): 373–81. doi:10.1007/s13353-015-0328-z. PMC 4963446. PMID 26608600.
- ↑ Li S, Crenshaw EB, Rawson EJ, Simmons DM, Swanson LW, Rosenfeld MG (1990). "Dwarf locus mutants lacking three pituitary cell types result from mutations in the POU-domain gene pit-1". Nature. 347 (6293): 528–33. doi:10.1038/347528a0. PMID 1977085.
- ↑ Wu W, Cogan JD, Pfäffle RW, Dasen JS, Frisch H, O'Connell SM, Flynn SE, Brown MR, Mullis PE, Parks JS, Phillips JA, Rosenfeld MG (1998). "Mutations in PROP1 cause familial combined pituitary hormone deficiency". Nat. Genet. 18 (2): 147–9. doi:10.1038/ng0298-147. PMID 9462743.
- ↑ Besson A, Salemi S, Deladoëy J, Vuissoz JM, Eblé A, Bidlingmaier M, Bürgi S, Honegger U, Flück C, Mullis PE (2005). "Short stature caused by a biologically inactive mutant growth hormone (GH-C53S)". J. Clin. Endocrinol. Metab. 90 (5): 2493–9. doi:10.1210/jc.2004-1838. PMID 15713716.
- ↑ Hwa V, Camacho-Hübner C, Little BM, David A, Metherell LA, El-Khatib N, Savage MO, Rosenfeld RG (2007). "Growth hormone insensitivity and severe short stature in siblings: a novel mutation at the exon 13-intron 13 junction of the STAT5b gene". Horm. Res. 68 (5): 218–24. doi:10.1159/000101334. PMID 17389811.
- ↑ Kawashima Y, Higaki K, Fukushima T, Hakuno F, Nagaishi J, Hanaki K, Nanba E, Takahashi S, Kanzaki S (2012). "Novel missense mutation in the IGF-I receptor L2 domain results in intrauterine and postnatal growth retardation". Clin. Endocrinol. (Oxf). 77 (2): 246–54. doi:10.1111/j.1365-2265.2012.04357.x. PMID 22309212.
- ↑ Domené HM, Hwa V, Argente J, Wit JM, Wit JM, Camacho-Hübner C, Jasper HG, Pozo J, van Duyvenvoorde HA, Yakar S, Fofanova-Gambetti OV, Rosenfeld RG (2009). "Human acid-labile subunit deficiency: clinical, endocrine and metabolic consequences". Horm. Res. 72 (3): 129–41. doi:10.1159/000232486. PMID 19729943.