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Abnormality of the hypothalamus-pituitary axis

MedGen UID:
871331
Concept ID:
C4025819
Anatomical Abnormality
HPO: HP:0000864

Definition

Abnormality of the pituitary gland (also known as hypophysis), which is an endocrine gland that protrudes from the bottom of the hypothalamus at the base of the brain. The pituitary gland secretes the hormones ACTH, TSH, PRL, GH, endorphins, FSH, LH, oxytocin, and antidiuretic hormone. The secretion of hormones from the anterior pituitary is under the strict control of hypothalamic hormones, and the posterior pituitary is essentially an extension of the hypothalamus, so that hypothalamus and pituitary gland may be regarded as a functional unit. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbnormality of the hypothalamus-pituitary axis

Conditions with this feature

Microphthalmia with brain and digit anomalies
MedGen UID:
355268
Concept ID:
C1864689
Disease or Syndrome
This syndrome has characteristics of anophthalmia or microphthalmia, retinal dystrophy, and/or myopia, associated in some cases with cerebral anomalies. It has been described in two families. Polydactyly may also be present. Linkage analysis allowed identification of mutations in the BMP4 gene, which has already been shown to play a role in eye development.

Professional guidelines

PubMed

Klosinska M, Kaczynska A, Ben-Skowronek I
Front Endocrinol (Lausanne) 2022;13:860862. Epub 2022 Mar 18 doi: 10.3389/fendo.2022.860862. PMID: 35370986Free PMC Article
Rademaker KJ, de Vries WB
Semin Fetal Neonatal Med 2009 Jun;14(3):171-7. Epub 2008 Dec 19 doi: 10.1016/j.siny.2008.11.004. PMID: 19101215
Kauppila M, Viikari J, Irjala K, Koskinen P, Remes K
J Intern Med 1998 Nov;244(5):411-6. doi: 10.1046/j.1365-2796.1998.00390.x. PMID: 9845857

Recent clinical studies

Etiology

Stawerska R, Nowak-Bednarek M, Talar T, Kolasa-Kicińska M, Łupińska A, Hilczer M, Gulczyńska E, Lewiński A
Front Endocrinol (Lausanne) 2022;13:940152. Epub 2022 Aug 10 doi: 10.3389/fendo.2022.940152. PMID: 36034431Free PMC Article
Scott MR, McClung CA
Adv Exp Med Biol 2021;1344:153-168. doi: 10.1007/978-3-030-81147-1_9. PMID: 34773231
Chaudhary H, Patel J, Jain NK, Joshi R
J Ovarian Res 2021 Sep 26;14(1):125. doi: 10.1186/s13048-021-00879-w. PMID: 34563259Free PMC Article
Demarest SP, Gill RS, Adler RA
Endocr Pract 2015 Feb;21(2):190-8. doi: 10.4158/EP14339.RA. PMID: 25536970
Zhang C, Xu D, Luo H, Lu J, Liu L, Ping J, Wang H
Toxicology 2014 Nov 5;325:74-84. Epub 2014 Sep 4 doi: 10.1016/j.tox.2014.08.015. PMID: 25194749

Diagnosis

Stawerska R, Nowak-Bednarek M, Talar T, Kolasa-Kicińska M, Łupińska A, Hilczer M, Gulczyńska E, Lewiński A
Front Endocrinol (Lausanne) 2022;13:940152. Epub 2022 Aug 10 doi: 10.3389/fendo.2022.940152. PMID: 36034431Free PMC Article
Klosinska M, Kaczynska A, Ben-Skowronek I
Front Endocrinol (Lausanne) 2022;13:860862. Epub 2022 Mar 18 doi: 10.3389/fendo.2022.860862. PMID: 35370986Free PMC Article
Scott MR, McClung CA
Adv Exp Med Biol 2021;1344:153-168. doi: 10.1007/978-3-030-81147-1_9. PMID: 34773231
Peramunage D, Nikravan S
Anesthesiol Clin 2020 Mar;38(1):149-163. Epub 2020 Jan 2 doi: 10.1016/j.anclin.2019.10.006. PMID: 32008649
Berga S, Naftolin F
Gynecol Endocrinol 2012 Mar;28 Suppl 1:9-13. doi: 10.3109/09513590.2012.651929. PMID: 22283375

Therapy

Klosinska M, Kaczynska A, Ben-Skowronek I
Front Endocrinol (Lausanne) 2022;13:860862. Epub 2022 Mar 18 doi: 10.3389/fendo.2022.860862. PMID: 35370986Free PMC Article
Scott MR, McClung CA
Adv Exp Med Biol 2021;1344:153-168. doi: 10.1007/978-3-030-81147-1_9. PMID: 34773231
Demarest SP, Gill RS, Adler RA
Endocr Pract 2015 Feb;21(2):190-8. doi: 10.4158/EP14339.RA. PMID: 25536970
Zhang C, Xu D, Luo H, Lu J, Liu L, Ping J, Wang H
Toxicology 2014 Nov 5;325:74-84. Epub 2014 Sep 4 doi: 10.1016/j.tox.2014.08.015. PMID: 25194749
Schnell A, Albrecht U, Sandrelli F
Behav Neurosci 2014 Jun;128(3):326-43. Epub 2014 Mar 24 doi: 10.1037/a0035883. PMID: 24660658

Prognosis

Raju V, Gibbison B, Klerman EB, Faghih RT
Annu Int Conf IEEE Eng Med Biol Soc 2023 Jul;2023:1-6. doi: 10.1109/EMBC40787.2023.10340220. PMID: 38083379Free PMC Article
Jin HY, Lee JA, Park M, Lee DE, Park HJ
BMC Pediatr 2023 Mar 18;23(1):124. doi: 10.1186/s12887-023-03900-x. PMID: 36932342Free PMC Article
Chaudhary H, Patel J, Jain NK, Joshi R
J Ovarian Res 2021 Sep 26;14(1):125. doi: 10.1186/s13048-021-00879-w. PMID: 34563259Free PMC Article
Holmes L, Chinaka C, Elmi H, Deepika K, Pelaez L, Enwere M, Akinola OT, Dabney KW
Int J Environ Res Public Health 2019 Oct 25;16(21) doi: 10.3390/ijerph16214123. PMID: 31717711Free PMC Article
Ma RC, Kong AP, Chan N, Tong PC, Chan JC
Drug Saf 2007;30(3):215-45. doi: 10.2165/00002018-200730030-00005. PMID: 17343430

Clinical prediction guides

Stawerska R, Nowak-Bednarek M, Talar T, Kolasa-Kicińska M, Łupińska A, Hilczer M, Gulczyńska E, Lewiński A
Front Endocrinol (Lausanne) 2022;13:940152. Epub 2022 Aug 10 doi: 10.3389/fendo.2022.940152. PMID: 36034431Free PMC Article
Chaudhary H, Patel J, Jain NK, Joshi R
J Ovarian Res 2021 Sep 26;14(1):125. doi: 10.1186/s13048-021-00879-w. PMID: 34563259Free PMC Article
Bernstein HG, Keilhoff G, Steiner J
Handb Clin Neurol 2021;182:107-120. doi: 10.1016/B978-0-12-819973-2.00008-3. PMID: 34266587
Chaki S
Int J Neuropsychopharmacol 2021 Jul 14;24(6):450-463. doi: 10.1093/ijnp/pyab013. PMID: 33733667Free PMC Article
Sone M, Osamura RY
Pituitary 2001 Jan-Apr;4(1-2):15-23. doi: 10.1023/a:1012978525492. PMID: 11824504

Recent systematic reviews

Donaldson AM, Choby G, Kim DH, Marks LA, Lal D
Otolaryngol Head Neck Surg 2020 Dec;163(6):1097-1108. Epub 2020 Jun 16 doi: 10.1177/0194599820931455. PMID: 32539494
Wang F, Zhang ZH, Xiao KZ, Wang ZC
Zhongguo Yi Xue Ke Xue Yuan Xue Bao 2017 Oct 30;39(5):699-704. doi: 10.3881/j.issn.1000-503X.2017.05.017. PMID: 29125115

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