Growth hormone deficiency causes: Difference between revisions

Jump to navigation Jump to search
← Older editNewer edit →
VisualWikitext
Medhat (talk | contribs)
nocaptcha
2,763 edits
No edit summary
Medhat (talk | contribs)
nocaptcha
2,763 edits
No edit summary
Line 14: Line 14:
* The ''POU1F1'' gene is responsible for pituitary-specific transcription of genes for GH, prolactin, thyrotropin, and the growth hormone releasing hormone (GHRH) receptor.<ref name="pmid1977085">{{cite journal| author=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 | year= 1990 | volume= 347 | issue= 6293 | pages= 528-33 | pmid=1977085 | doi=10.1038/347528a0 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=1977085  }}</ref> ''PROP1'' mutations result in failure to activate ''POU1F1/Pit1'' gene expression and probably cause pituitary hypoplasia and familial multiple pituitary hormone deficiencies.<ref name="pmid22024773">{{cite journal| author=Obermannova B, Pfaeffle R, Zygmunt-Gorska A, Starzyk J, Verkauskiene R, Smetanina N et al.| title=Mutations and pituitary morphology in a series of 82 patients with PROP1 gene defects. | journal=Horm Res Paediatr | year= 2011 | volume= 76 | issue= 5 | pages= 348-54 | pmid=22024773 | doi=10.1159/000332693 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=22024773  }}</ref>
* The ''POU1F1'' gene is responsible for pituitary-specific transcription of genes for GH, prolactin, thyrotropin, and the growth hormone releasing hormone (GHRH) receptor.<ref name="pmid1977085">{{cite journal| author=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 | year= 1990 | volume= 347 | issue= 6293 | pages= 528-33 | pmid=1977085 | doi=10.1038/347528a0 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=1977085  }}</ref> ''PROP1'' mutations result in failure to activate ''POU1F1/Pit1'' gene expression and probably cause pituitary hypoplasia and familial multiple pituitary hormone deficiencies.<ref name="pmid22024773">{{cite journal| author=Obermannova B, Pfaeffle R, Zygmunt-Gorska A, Starzyk J, Verkauskiene R, Smetanina N et al.| title=Mutations and pituitary morphology in a series of 82 patients with PROP1 gene defects. | journal=Horm Res Paediatr | year= 2011 | volume= 76 | issue= 5 | pages= 348-54 | pmid=22024773 | doi=10.1159/000332693 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=22024773  }}</ref>
* Mutations of ''GH1 which is'' the gene encoding GH.<ref name="pmid9462743">{{cite journal| author=Wu W, Cogan JD, Pfäffle RW, Dasen JS, Frisch H, O'Connell SM et al.| title=Mutations in PROP1 cause familial combined pituitary hormone deficiency. | journal=Nat Genet | year= 1998 | volume= 18 | issue= 2 | pages= 147-9 | pmid=9462743 | doi=10.1038/ng0298-147 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=9462743  }}</ref>
* Mutations of ''GH1 which is'' the gene encoding GH.<ref name="pmid9462743">{{cite journal| author=Wu W, Cogan JD, Pfäffle RW, Dasen JS, Frisch H, O'Connell SM et al.| title=Mutations in PROP1 cause familial combined pituitary hormone deficiency. | journal=Nat Genet | year= 1998 | volume= 18 | issue= 2 | pages= 147-9 | pmid=9462743 | doi=10.1038/ng0298-147 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=9462743  }}</ref>
* Gene deletions, frameshift mutations, and nonsense mutations of ''GH1'' have been described as causes of familial GHD.
* Gene deletions, frameshift mutations, and nonsense mutations of ''GH1'' have been described as causes of familial GHD.<ref name="pmid8768831">{{cite journal| author=Pellegrini-Bouiller I, Bélicar P, Barlier A, Gunz G, Charvet JP, Jaquet P et al.| title=A new mutation of the gene encoding the transcription factor Pit-1 is responsible for combined pituitary hormone deficiency. | journal=J Clin Endocrinol Metab | year= 1996 | volume= 81 | issue= 8 | pages= 2790-6 | pmid=8768831 | doi=10.1210/jcem.81.8.8768831 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8768831  }}</ref>


==== '''Structural causes''' ====
==== '''Structural causes''' ====
Line 33: Line 33:
* GHD following brain surgery and radiation therapy for brain tumors. Permanent GHD is highly likely to be permanent in infants or young children.<ref name="pmid3092668">{{cite journal| author=Snyder PJ, Fowble BF, Schatz NJ, Savino PJ, Gennarelli TA| title=Hypopituitarism following radiation therapy of pituitary adenomas. | journal=Am J Med | year= 1986 | volume= 81 | issue= 3 | pages= 457-62 | pmid=3092668 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=3092668  }}</ref>
* GHD following brain surgery and radiation therapy for brain tumors. Permanent GHD is highly likely to be permanent in infants or young children.<ref name="pmid3092668">{{cite journal| author=Snyder PJ, Fowble BF, Schatz NJ, Savino PJ, Gennarelli TA| title=Hypopituitarism following radiation therapy of pituitary adenomas. | journal=Am J Med | year= 1986 | volume= 81 | issue= 3 | pages= 457-62 | pmid=3092668 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=3092668  }}</ref>
* Central nervous system infection
* Central nervous system infection
* [[Pituitary adenoma]]
* [[Pituitary adenoma]]<ref name="pmid26252454">{{cite journal| author=Jahangiri A, Wagner JR, Han SW, Tran MT, Miller LM, Chen R et al.| title=Improved versus worsened endocrine function after transsphenoidal surgery for nonfunctional pituitary adenomas: rate, time course, and radiological analysis. | journal=J Neurosurg | year= 2016 | volume= 124 | issue= 3 | pages= 589-95 | pmid=26252454 | doi=10.3171/2015.1.JNS141543 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=26252454  }}</ref>
* [[Craniopharyngioma]]
* [[Craniopharyngioma]]
* [[Rathke’s cleft|Rathke’s cleft cyst]]
* [[Rathke’s cleft|Rathke’s cleft cyst]]
* [[Glioma]]/[[astrocytoma]]
* [[Glioma]]/[[astrocytoma]]
* [[Germinoma]]
* [[Germinoma]]
* Infiltrative/[[Granulomatous|granulomatous disease]]:
* Infiltrative/[[Granulomatous|granulomatous disease]]:<ref name="pmid6794282">{{cite journal| author=Charbonnel B, Chupin M, Le Grand A, Guillon J| title=Pituitary function in idiopathic haemochromatosis: hormonal study in 36 male patients. | journal=Acta Endocrinol (Copenh) | year= 1981 | volume= 98 | issue= 2 | pages= 178-83 | pmid=6794282 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=6794282  }}</ref>
* [[Langerhans cell histiocytosis]]
* [[Langerhans cell histiocytosis]]
* [[Sarcoidosis]]
* [[Sarcoidosis]]<ref name="pmid112384842">{{cite journal| author=Cheung CC, Ezzat S, Smyth HS, Asa SL| title=The spectrum and significance of primary hypophysitis. | journal=J Clin Endocrinol Metab | year= 2001 | volume= 86 | issue= 3 | pages= 1048-53 | pmid=11238484 | doi=10.1210/jcem.86.3.7265 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=11238484  }}</ref>
* [[Tuberculosis]]
* [[Tuberculosis]]
* [[Hypophysitis]]<ref name="pmid11238484">{{cite journal| author=Cheung CC, Ezzat S, Smyth HS, Asa SL| title=The spectrum and significance of primary hypophysitis. | journal=J Clin Endocrinol Metab | year= 2001 | volume= 86 | issue= 3 | pages= 1048-53 | pmid=11238484 | doi=10.1210/jcem.86.3.7265 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=11238484  }}</ref>
* [[Hypophysitis]]<ref name="pmid11238484">{{cite journal| author=Cheung CC, Ezzat S, Smyth HS, Asa SL| title=The spectrum and significance of primary hypophysitis. | journal=J Clin Endocrinol Metab | year= 2001 | volume= 86 | issue= 3 | pages= 1048-53 | pmid=11238484 | doi=10.1210/jcem.86.3.7265 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=11238484  }}</ref>
* Surgery of the [[Pituitary gland|pituitary]] or [[hypothalamus]]
* Surgery of the [[Pituitary gland|pituitary]] or [[hypothalamus]]<ref name="pmid262524542">{{cite journal| author=Jahangiri A, Wagner JR, Han SW, Tran MT, Miller LM, Chen R et al.| title=Improved versus worsened endocrine function after transsphenoidal surgery for nonfunctional pituitary adenomas: rate, time course, and radiological analysis. | journal=J Neurosurg | year= 2016 | volume= 124 | issue= 3 | pages= 589-95 | pmid=26252454 | doi=10.3171/2015.1.JNS141543 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=26252454  }}</ref>
* [[Infarction]]
* [[Sheehan's syndrome|Sheehan’s syndrome]]<ref name="pmid2750772">{{cite journal| author=Barkan AL| title=Pituitary atrophy in patients with Sheehan's syndrome. | journal=Am J Med Sci | year= 1989 | volume= 298 | issue= 1 | pages= 38-40 | pmid=2750772 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=2750772  }}</ref>
* [[Sheehan's syndrome|Sheehan’s syndrome]]
* [[Idiopathic]]
* [[Idiopathic]]


Revision as of 20:06, 14 August 2017

Growth hormone deficiency Microchapters

Home

Patient Information

Overview

Historical Perspective

Classification

Pathophysiology

Causes

Differentiating Growth hormone deficiency from other Diseases

Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications and Prognosis

Diagnosis

Diagnostic Criteria

History and Symptoms

Physical Examination

Laboratory Findings

X Ray

CT

MRI

Echocardiography or Ultrasound

Other Imaging Findings

Other Diagnostic Studies

Treatment

Medical Therapy

Surgery

Primary Prevention

Secondary Prevention

Cost-Effectiveness of Therapy

Future or Investigational Therapies

Case Studies

Case #1

Growth hormone deficiency causes On the Web

Most recent articles

Most cited articles

Review articles

CME Programs

Powerpoint slides

Images

American Roentgen Ray Society Images of Growth hormone deficiency causes

All Images
X-rays
Echo & Ultrasound
CT Images
MRI

Ongoing Trials at Clinical Trials.gov

US National Guidelines Clearinghouse

NICE Guidance

FDA on Growth hormone deficiency causes

CDC on Growth hormone deficiency causes

Growth hormone deficiency causes in the news

Blogs on Growth hormone deficiency causes

Directions to Hospitals Treating Growth hormone deficiency

Risk calculators and risk factors for Growth hormone deficiency causes

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:

Overview

Causes of growth hormone deficiency could be congenital or acquired. Congenital causes include genetic mutations in POU1F1, PROP-1, and GH-1 genes. Structural causes can cause growth hormone deficiency such as optic nerve hypoplasia, agenesis of corpus callosum, septo-optic dysplasia, empty sella syndrome, and holoprosencephaly. Acquired causes can cause growth hormone deficiency such as GHD following brain surgery and radiation therapy for brain tumors, central nervous system infection, craniopharyngioma, pituitary adenoma.

Causes

Congenital growth hormone deficiency:

Genetic causes

It is usually recognized by the presence of affected relatives and confirmed by molecular testing for the causative genes, which include POU1F1, PROP-1, and GH-1:

  • The POU1F1 gene is responsible for pituitary-specific transcription of genes for GH, prolactin, thyrotropin, and the growth hormone releasing hormone (GHRH) receptor.[1] PROP1 mutations result in failure to activate POU1F1/Pit1 gene expression and probably cause pituitary hypoplasia and familial multiple pituitary hormone deficiencies.[2]
  • Mutations of GH1 which is the gene encoding GH.[3]
  • Gene deletions, frameshift mutations, and nonsense mutations of GH1 have been described as causes of familial GHD.[4]

Structural causes 

  • GHD is highly likely to be permanent in these patients
  • It is associated with midline craniofacial anomalies causing agenesis of the hypothalamic-pituitary stalk:[5]

Acquired growth hormone deficiency[5]

Laron syndrome

  • It is the most common known cause of genetically-mediated GHI.
  • Growth hormone insensitivity is an absence of the biological effects of growth hormone despite a normal production of GH.
  • In contrast with GH deficiency, Laron syndrome is characterized by growth failure and normal levels of GH.
  • It is caused by mutations in the growth hormone (GH) receptor gene which affects the extracellular GH-binding of the receptor.
  • Its severity correlates to IGF-I and insulin-like growth factor-binding protein 3 (IGFBP-3) levels.

References

  1. ↑ 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.
  2. ↑ Obermannova B, Pfaeffle R, Zygmunt-Gorska A, Starzyk J, Verkauskiene R, Smetanina N; et al. (2011). "Mutations and pituitary morphology in a series of 82 patients with PROP1 gene defects". Horm Res Paediatr. 76 (5): 348–54. doi:10.1159/000332693. PMID 22024773.
  3. ↑ Wu W, Cogan JD, Pfäffle RW, Dasen JS, Frisch H, O'Connell SM; et al. (1998). "Mutations in PROP1 cause familial combined pituitary hormone deficiency". Nat Genet. 18 (2): 147–9. doi:10.1038/ng0298-147. PMID 9462743.
  4. ↑ Pellegrini-Bouiller I, Bélicar P, Barlier A, Gunz G, Charvet JP, Jaquet P; et al. (1996). "A new mutation of the gene encoding the transcription factor Pit-1 is responsible for combined pituitary hormone deficiency". J Clin Endocrinol Metab. 81 (8): 2790–6. doi:10.1210/jcem.81.8.8768831. PMID 8768831.
  5. ↑ 5.0 5.1 Molitch ME, Clemmons DR, Malozowski S, Merriam GR, Vance ML, Endocrine Society (2011). "Evaluation and treatment of adult growth hormone deficiency: an Endocrine Society clinical practice guideline". J Clin Endocrinol Metab. 96 (6): 1587–609. doi:10.1210/jc.2011-0179. PMID 21602453.
  6. ↑ Snyder PJ, Fowble BF, Schatz NJ, Savino PJ, Gennarelli TA (1986). "Hypopituitarism following radiation therapy of pituitary adenomas". Am J Med. 81 (3): 457–62. PMID 3092668.
  7. ↑ Jahangiri A, Wagner JR, Han SW, Tran MT, Miller LM, Chen R; et al. (2016). "Improved versus worsened endocrine function after transsphenoidal surgery for nonfunctional pituitary adenomas: rate, time course, and radiological analysis". J Neurosurg. 124 (3): 589–95. doi:10.3171/2015.1.JNS141543. PMID 26252454.
  8. ↑ Charbonnel B, Chupin M, Le Grand A, Guillon J (1981). "Pituitary function in idiopathic haemochromatosis: hormonal study in 36 male patients". Acta Endocrinol (Copenh). 98 (2): 178–83. PMID 6794282.
  9. ↑ Cheung CC, Ezzat S, Smyth HS, Asa SL (2001). "The spectrum and significance of primary hypophysitis". J Clin Endocrinol Metab. 86 (3): 1048–53. doi:10.1210/jcem.86.3.7265. PMID 11238484.
  10. ↑ Cheung CC, Ezzat S, Smyth HS, Asa SL (2001). "The spectrum and significance of primary hypophysitis". J Clin Endocrinol Metab. 86 (3): 1048–53. doi:10.1210/jcem.86.3.7265. PMID 11238484.
  11. ↑ Jahangiri A, Wagner JR, Han SW, Tran MT, Miller LM, Chen R; et al. (2016). "Improved versus worsened endocrine function after transsphenoidal surgery for nonfunctional pituitary adenomas: rate, time course, and radiological analysis". J Neurosurg. 124 (3): 589–95. doi:10.3171/2015.1.JNS141543. PMID 26252454.
  12. ↑ Barkan AL (1989). "Pituitary atrophy in patients with Sheehan's syndrome". Am J Med Sci. 298 (1): 38–40. PMID 2750772.
Retrieved from "https://www.wikidoc.org/index.php?title=Growth_hormone_deficiency_causes&oldid=1341109"