Hypopituitarism pathophysiology: Difference between revisions

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**The anatomical sitting of the [[pituitary gland]] increases its susceptibility to getting injured from [[trauma]].
**The anatomical sitting of the [[pituitary gland]] increases its susceptibility to getting injured from [[trauma]].
**It is believed that [[Necrosis|tissue necrosis]] results in the release of sequestered [[antigens]], precipitating [[autoimmunity]] of the [[Pituitary gland]] and [[hypopituitarism]] in [[Sheehan's syndrome]].<ref name="pmid12213861">{{cite journal |vauthors=Goswami R, Kochupillai N, Crock PA, Jaleel A, Gupta N |title=Pituitary autoimmunity in patients with Sheehan's syndrome |journal=J. Clin. Endocrinol. Metab. |volume=87 |issue=9 |pages=4137–41 |year=2002 |pmid=12213861 |doi=10.1210/jc.2001-020242 |url=}}</ref><ref name="urlAUTOANTIBODIES IN SHEEHANS SYNDROME - ScienceDirect">{{cite web |url=http://www.sciencedirect.com/science/article/pii/S0140673665913619?via%3Dihub |title=AUTOANTIBODIES IN SHEEHAN'S SYNDROME - ScienceDirect |format= |work= |accessdate=}}</ref><ref name="pmid24434361">{{cite journal |vauthors=Falorni A, Minarelli V, Bartoloni E, Alunno A, Gerli R |title=Diagnosis and classification of autoimmune hypophysitis |journal=Autoimmun Rev |volume=13 |issue=4-5 |pages=412–6 |year=2014 |pmid=24434361 |doi=10.1016/j.autrev.2014.01.021 |url=}}</ref>
**It is believed that [[Necrosis|tissue necrosis]] results in the release of sequestered [[antigens]], precipitating [[autoimmunity]] of the [[Pituitary gland]] and [[hypopituitarism]] in [[Sheehan's syndrome]].<ref name="pmid12213861">{{cite journal |vauthors=Goswami R, Kochupillai N, Crock PA, Jaleel A, Gupta N |title=Pituitary autoimmunity in patients with Sheehan's syndrome |journal=J. Clin. Endocrinol. Metab. |volume=87 |issue=9 |pages=4137–41 |year=2002 |pmid=12213861 |doi=10.1210/jc.2001-020242 |url=}}</ref><ref name="urlAUTOANTIBODIES IN SHEEHANS SYNDROME - ScienceDirect">{{cite web |url=http://www.sciencedirect.com/science/article/pii/S0140673665913619?via%3Dihub |title=AUTOANTIBODIES IN SHEEHAN'S SYNDROME - ScienceDirect |format= |work= |accessdate=}}</ref><ref name="pmid24434361">{{cite journal |vauthors=Falorni A, Minarelli V, Bartoloni E, Alunno A, Gerli R |title=Diagnosis and classification of autoimmune hypophysitis |journal=Autoimmun Rev |volume=13 |issue=4-5 |pages=412–6 |year=2014 |pmid=24434361 |doi=10.1016/j.autrev.2014.01.021 |url=}}</ref>
== Hypothalamic and pituitary hormones with their action on the target glands: ==
{| class="wikitable"
!Hypothalamic hormone
!Mode of action
!Pituitary hormone
or target organ
!Action
|-
|Thyrotropin releasing hormone
|stimulatory
|thyrotropin
|stimulates triiodothyronine and thyroxine production
|-
| rowspan="2" |Corticotropin releasing hormone
|stimulatory
|corticotropin
|stimulates production of cortisol and adrenal androgens
|-
|stimulatory
|prolactin
|stimulates milk production from breasts in females
|-
|Gonadotropin releasing hormone
|stimulatory
|
* follicle stimulating hormone
* leutinizing hormone
|
* Males: stimulates testosterone production and spermatogenesis
* Female: stimulates estradiol and progesterone production, ovulation and folliculogenesis
|-
|Dopamine
|inhibitory
|prolactin
|_
|-
|Growth hormone releasing hormone
|stimulatory
|growth hormone
|stimulates insulin like growth factor 1 production
|-
|Somatostatin
|inhibitory
|growth hormone
|_
|-
|Vasopressin
|stimulatory
|
|stimulates free water reabsorption in the collecting ducts
|-
|Oxytocin
|stimulatory
|breast, uterus
|stimulates milk ejection and uterine contraction
|}
===Genetics===
Hypopituitarism is caused by a [[mutation]] in any one of the following [[genes]].<ref name="pmid14561704">{{cite journal |vauthors=Carvalho LR, Woods KS, Mendonca BB, Marcal N, Zamparini AL, Stifani S, Brickman JM, Arnhold IJ, Dattani MT |title=A homozygous mutation in HESX1 is associated with evolving hypopituitarism due to impaired repressor-corepressor interaction |journal=J. Clin. Invest. |volume=112 |issue=8 |pages=1192–201 |year=2003 |pmid=14561704 |pmc=213489 |doi=10.1172/JCI18589 |url=}}</ref><ref name="pmid16940453">{{cite journal |vauthors=Sobrier ML, Maghnie M, Vié-Luton MP, Secco A, di Iorgi N, Lorini R, Amselem S |title=Novel HESX1 mutations associated with a life-threatening neonatal phenotype, pituitary aplasia, but normally located posterior pituitary and no optic nerve abnormalities |journal=J. Clin. Endocrinol. Metab. |volume=91 |issue=11 |pages=4528–36 |year=2006 |pmid=16940453 |doi=10.1210/jc.2006-0426 |url=}}</ref><ref name="pmid10835633">{{cite journal |vauthors=Netchine I, Sobrier ML, Krude H, Schnabel D, Maghnie M, Marcos E, Duriez B, Cacheux V, Moers Av, Goossens M, Grüters A, Amselem S |title=Mutations in LHX3 result in a new syndrome revealed by combined pituitary hormone deficiency |journal=Nat. Genet. |volume=25 |issue=2 |pages=182–6 |year=2000 |pmid=10835633 |doi=10.1038/76041 |url=}}</ref><ref name="pmid11567216">{{cite journal |vauthors=Machinis K, Pantel J, Netchine I, Léger J, Camand OJ, Sobrier ML, Dastot-Le Moal F, Duquesnoy P, Abitbol M, Czernichow P, Amselem S |title=Syndromic short stature in patients with a germline mutation in the LIM homeobox LHX4 |journal=Am. J. Hum. Genet. |volume=69 |issue=5 |pages=961–8 |year=2001 |pmid=11567216 |pmc=1274372 |doi= |url=}}</ref><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><ref name="pmid8768831">{{cite journal |vauthors=Pellegrini-Bouiller I, Bélicar P, Barlier A, Gunz G, Charvet JP, Jaquet P, Brue T, Vialettes B, Enjalbert A |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. |volume=81 |issue=8 |pages=2790–6 |year=1996 |pmid=8768831 |doi=10.1210/jcem.81.8.8768831 |url=}}</ref><ref name="pmid1509263">{{cite journal |vauthors=Pfäffle RW, DiMattia GE, Parks JS, Brown MR, Wit JM, Jansen M, Van der Nat H, Van den Brande JL, Rosenfeld MG, Ingraham HA |title=Mutation of the POU-specific domain of Pit-1 and hypopituitarism without pituitary hypoplasia |journal=Science |volume=257 |issue=5073 |pages=1118–21 |year=1992 |pmid=1509263 |doi= |url=}}</ref><ref name="pmid15928241">{{cite journal |vauthors=Turton JP, Reynaud R, Mehta A, Torpiano J, Saveanu A, Woods KS, Tiulpakov A, Zdravkovic V, Hamilton J, Attard-Montalto S, Parascandalo R, Vella C, Clayton PE, Shalet S, Barton J, Brue T, Dattani MT |title=Novel mutations within the POU1F1 gene associated with variable combined pituitary hormone deficiency |journal=J. Clin. Endocrinol. Metab. |volume=90 |issue=8 |pages=4762–70 |year=2005 |pmid=15928241 |doi=10.1210/jc.2005-0570 |url=}}</ref><ref name="pmid16394081">{{cite journal |vauthors=Bhangoo AP, Hunter CS, Savage JJ, Anhalt H, Pavlakis S, Walvoord EC, Ten S, Rhodes SJ |title=Clinical case seminar: a novel LHX3 mutation presenting as combined pituitary hormonal deficiency |journal=J. Clin. Endocrinol. Metab. |volume=91 |issue=3 |pages=747–53 |year=2006 |pmid=16394081 |doi=10.1210/jc.2005-2360 |url=}}</ref><ref name="pmid9745452">{{cite journal |vauthors=Cogan JD, Wu W, Phillips JA, Arnhold IJ, Agapito A, Fofanova OV, Osorio MG, Bircan I, Moreno A, Mendonca BB |title=The PROP1 2-base pair deletion is a common cause of combined pituitary hormone deficiency |journal=J. Clin. Endocrinol. Metab. |volume=83 |issue=9 |pages=3346–9 |year=1998 |pmid=9745452 |doi=10.1210/jcem.83.9.5142 |url=}}</ref><ref name="pmid9768691">{{cite journal |vauthors=Flück C, Deladoey J, Rutishauser K, Eblé A, Marti U, Wu W, Mullis PE |title=Phenotypic variability in familial combined pituitary hormone deficiency caused by a PROP1 gene mutation resulting in the substitution of Arg-->Cys at codon 120 (R120C) |journal=J. Clin. Endocrinol. Metab. |volume=83 |issue=10 |pages=3727–34 |year=1998 |pmid=9768691 |doi=10.1210/jcem.83.10.5172 |url=}}</ref><ref name="pmid9920061">{{cite journal |vauthors=Rosenbloom AL, Almonte AS, Brown MR, Fisher DA, Baumbach L, Parks JS |title=Clinical and biochemical phenotype of familial anterior hypopituitarism from mutation of the PROP1 gene |journal=J. Clin. Endocrinol. Metab. |volume=84 |issue=1 |pages=50–7 |year=1999 |pmid=9920061 |doi=10.1210/jcem.84.1.5366 |url=}}</ref><ref name="pmid10634415">{{cite journal |vauthors=Pernasetti F, Toledo SP, Vasilyev VV, Hayashida CY, Cogan JD, Ferrari C, Lourenço DM, Mellon PL |title=Impaired adrenocorticotropin-adrenal axis in combined pituitary hormone deficiency caused by a two-base pair deletion (301-302delAG) in the prophet of Pit-1 gene |journal=J. Clin. Endocrinol. Metab. |volume=85 |issue=1 |pages=390–7 |year=2000 |pmid=10634415 |doi=10.1210/jcem.85.1.6324 |url=}}</ref><ref name="pmid15472175">{{cite journal |vauthors=Lee JK, Zhu YS, Cordero JJ, Cai LQ, Labour I, Herrera C, Imperato-McGinley J |title=Long-term growth hormone therapy in adulthood results in significant linear growth in siblings with a PROP-1 gene mutation |journal=J. Clin. Endocrinol. Metab. |volume=89 |issue=10 |pages=4850–6 |year=2004 |pmid=15472175 |doi=10.1210/jc.2003-031816 |url=}}</ref><ref name="pmid21123951">{{cite journal |vauthors=Yamamoto M, Iguchi G, Takeno R, Okimura Y, Sano T, Takahashi M, Nishizawa H, Handayaningshi AE, Fukuoka H, Tobita M, Saitoh T, Tojo K, Mokubo A, Morinobu A, Iida K, Kaji H, Seino S, Chihara K, Takahashi Y |title=Adult combined GH, prolactin, and TSH deficiency associated with circulating PIT-1 antibody in humans |journal=J. Clin. Invest. |volume=121 |issue=1 |pages=113–9 |year=2011 |pmid=21123951 |pmc=3007153 |doi=10.1172/JCI44073 |url=}}</ref><ref name="pmid15613420">{{cite journal |vauthors=Vallette-Kasic S, Brue T, Pulichino AM, Gueydan M, Barlier A, David M, Nicolino M, Malpuech G, Déchelotte P, Deal C, Van Vliet G, De Vroede M, Riepe FG, Partsch CJ, Sippell WG, Berberoglu M, Atasay B, de Zegher F, Beckers D, Kyllo J, Donohoue P, Fassnacht M, Hahner S, Allolio B, Noordam C, Dunkel L, Hero M, Pigeon B, Weill J, Yigit S, Brauner R, Heinrich JJ, Cummings E, Riddell C, Enjalbert A, Drouin J |title=Congenital isolated adrenocorticotropin deficiency: an underestimated cause of neonatal death, explained by TPIT gene mutations |journal=J. Clin. Endocrinol. Metab. |volume=90 |issue=3 |pages=1323–31 |year=2005 |pmid=15613420 |doi=10.1210/jc.2004-1300 |url=}}</ref><ref name="pmid23199197">{{cite journal |vauthors=Yang Y, Guo QH, Wang BA, Dou JT, Lv ZH, Ba JM, Lu JM, Pan CY, Mu YM |title=Pituitary stalk interruption syndrome in 58 Chinese patients: clinical features and genetic analysis |journal=Clin. Endocrinol. (Oxf) |volume=79 |issue=1 |pages=86–92 |year=2013 |pmid=23199197 |doi=10.1111/cen.12116 |url=}}</ref><ref name="pmid25845766">{{cite journal |vauthors=Wang W, Wang S, Jiang Y, Yan F, Su T, Zhou W, Jiang L, Zhang Y, Ning G |title=Relationship between pituitary stalk (PS) visibility and the severity of hormone deficiencies: PS interruption syndrome revisited |journal=Clin. Endocrinol. (Oxf) |volume=83 |issue=3 |pages=369–76 |year=2015 |pmid=25845766 |doi=10.1111/cen.12788 |url=}}</ref><ref name="pmid10084575">{{cite journal |vauthors=Mendonca BB, Osorio MG, Latronico AC, Estefan V, Lo LS, Arnhold IJ |title=Longitudinal hormonal and pituitary imaging changes in two females with combined pituitary hormone deficiency due to deletion of A301,G302 in the PROP1 gene |journal=J. Clin. Endocrinol. Metab. |volume=84 |issue=3 |pages=942–5 |year=1999 |pmid=10084575 |doi=10.1210/jcem.84.3.5537 |url=}}</ref><ref name="pmid15972577">{{cite journal |vauthors=De Marinis L, Bonadonna S, Bianchi A, Maira G, Giustina A |title=Primary empty sella |journal=J. Clin. Endocrinol. Metab. |volume=90 |issue=9 |pages=5471–7 |year=2005 |pmid=15972577 |doi=10.1210/jc.2005-0288 |url=}}</ref>
{| class="wikitable"
! rowspan="22" |Isolated
hormone abnormalities
!Gene
!Inheritance
!Phenotype
|-
!GH1
!AR, AD
!Isolated GH deficiency
|-
|[[GHRHR]]
|AR
|Isolated [[GH deficiency]]
|-
|TSHB
|AR
|Isolated [[TSH]] deficiency
|-
|TRHR
|AR
|Isolated TSH deficiency
|-
|TPIT
|AR
|Isolated [[ACTH]] deficiency
|-
|GnRHR
|AR
|[[HH]]
|-
|PC1
|AR
|[[ACTH deficiency]], [[hypoglycemia]], HH, [[obesity]]
|-
|[[POMC]]
|AR
|ACTH deficiency, [[obesity]], red hair
|-
|[[DAX1]]
|XL
|[[Adrenal hypoplasia congenital, X-linked|Adrenal hypoplasia congenital]] and HH
|-
|CRH
|AR
|[[Corticotropin-releasing hormone|CRH]] deficiency
|-
|[[KAL1 gene|KAL1]]
|XL
|[[Kallman syndrome]], [[renal agenesis]], synkinesia
|-
|[[FGFR1]]
|AD, AR
|Kallman syndrome, [[cleft lip and palate]], [[facial dysmorphism]]
|-
|[[Leptin]]
|AR
|HH, obesity
|-
|Leptin-R
|AR
|HH, obesity
|-
|GPR54
|AR
|[[HH]]
|-
|[[Kisspeptin]]
|AR
|HH
|-
|[[FSHB]]
|AR
|[[Amenorrhea|Primary amenorrhea]], defective [[spermatogenesis]]
|-
|LHB
|AR
|[[Delayed puberty]]
|-
|PROK2
|AD
|[[Kallman syndrome]], severe [[sleep disorder]], obesity
|-
|PROKR2
|AD, AR
|Kallman syndrome
|-
|''AVP-NPII''
|AR, AD
|[[Diabetes insipidus]]
|-
! rowspan="2" |Combined pituitary hormone deficiency
|''POU1F1''
|AR, AD
|[[GH]], [[TSH]], and [[prolactin]] deficiencies
|-
|''PROP1''
|AR
|GH, TSH, LH, FSH, prolactin, and evolving ACTH deficiencies
|-
! rowspan="8" |Specific syndromes
|[[HESX1]]
|AR, AD
|[[Septo-optic dysplasia]]
|-
|[[LHX3]]
|AR
|[[GH]], [[TSH]], [[LH]], [[FSH]], [[prolactin]] deficiencies, limited neck rotation
|-
|LHX4
|AD
|GH, TSH, ACTH deficiencies with [[cerebellar]] abnormalities
|-
|[[SOX3]]
|XL
|Hypopituitarism and [[mental retardation]]
|-
|''GLI2''
|AD
|[[Holoprosencephaly]] and multiple midline defects
|-
|SOX2
|AD
|[[Anophthalmia]], hypopituitarism, [[oesophageal atresia]]
|-
|''GLI3''
|AD
|[[Pallister-Hall syndrome]]
|-
|''[[PITX2]]''
|AD
|Rieger syndrome
|}


==References==
==References==

Revision as of 20:15, 15 September 2017

Hypopituitarism Microchapters

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Ahmed Elsaiey, MBBCH [2], Iqra Qamar M.D.[3]

Overview

Hypopituitarism is believed to be caused mainly due to ischemia of the pituitary gland. This ischemia can be due to hemorrhage, tumors, or brain injury. Compression of the blood vessels is one of the mechanisms that cause ischemia to the pituitary gland and leads to hypopituitarism. Pituitary adenomas cause compression to the hypophyseal vessels leading to interruption in the pituitary gland function. Traumatic brain injury either primary or secondary also leads to pituitary gland dysfunction.

Pathophysiology

Background on pituitary gland blood supply

Pathogenesis

References

  1. ↑ Dusick JR, Wang C, Cohan P, Swerdloff R, Kelly DF (2012). "Pathophysiology of hypopituitarism in the setting of brain injury". Pituitary. 15 (1): 2–9. doi:10.1007/s11102-008-0130-6. PMC 4170072. PMID 18481181.
  2. ↑ Schneider HJ, Aimaretti G, Kreitschmann-Andermahr I, Stalla GK, Ghigo E (2007). "Hypopituitarism". Lancet. 369 (9571): 1461–70. doi:10.1016/S0140-6736(07)60673-4. PMID 17467517.
  3. ↑ Arafah BM (2002). "Medical management of hypopituitarism in patients with pituitary adenomas". Pituitary. 5 (2): 109–17. PMID 12675508.
  4. ↑ Vance, Mary Lee (1994). "Hypopituitarism". New England Journal of Medicine. 330 (23): 1651–1662. doi:10.1056/NEJM199406093302306. ISSN 0028-4793.
  5. ↑ Arafah BM, Prunty D, Ybarra J, Hlavin ML, Selman WR (2000). "The dominant role of increased intrasellar pressure in the pathogenesis of hypopituitarism, hyperprolactinemia, and headaches in patients with pituitary adenomas". J Clin Endocrinol Metab. 85 (5): 1789–93. doi:10.1210/jcem.85.5.6611. PMID 10843153.
  6. ↑ Goswami R, Kochupillai N, Crock PA, Jaleel A, Gupta N (2002). "Pituitary autoimmunity in patients with Sheehan's syndrome". J. Clin. Endocrinol. Metab. 87 (9): 4137–41. doi:10.1210/jc.2001-020242. PMID 12213861.
  7. ↑ "AUTOANTIBODIES IN SHEEHAN'S SYNDROME - ScienceDirect".
  8. ↑ Falorni A, Minarelli V, Bartoloni E, Alunno A, Gerli R (2014). "Diagnosis and classification of autoimmune hypophysitis". Autoimmun Rev. 13 (4–5): 412–6. doi:10.1016/j.autrev.2014.01.021. PMID 24434361.

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