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Abnormal hypothalamus morphology

MedGen UID:
866745
•Concept ID:
C4021095
•
Anatomical Abnormality
Synonyms: Abnormal shape of hypothalamus; Abnormality of hypothalamus morphology; Abnormality of the hypothalamus
 
HPO: HP:0012286

Definition

Any structural anomaly of the hypothalamus. [from HPO]

Conditions with this feature

Obesity due to leptin receptor gene deficiency
MedGen UID:
767139
•Concept ID:
C3554225
•
Disease or Syndrome
Leptin receptor deficiency is characterized by severe early-onset obesity, major hyperphagia, hypogonadotropic hypogonadism, and neuroendocrine/metabolic dysfunction (summary by Dehghani et al., 2018).
See: Condition Record
Obesity due to leptin receptor gene deficiency

Professional guidelines

PubMed

Diagnosis and management of congenital hypopituitarism in children.
Castets S, Thomas-Teinturier C, Villanueva C, Amsellem J, Barat P, Brun G, Quoc EB, Carel JC, De Filippo GP, Kipnis C, Martinerie L, Vergier J, Saveanu A, Teissier N, Coutant R, Léger J, Reynaud R
Arch Pediatr 2024 Apr;31(3):165-171. Epub 2024 Mar 27 doi: 10.1016/j.arcped.2024.01.003. PMID: 38538470
Pituitary stalk interruption syndrome: cause, clinical manifestations, diagnosis, and management.
Voutetakis A, Sertedaki A, Dacou-Voutetakis C
Curr Opin Pediatr 2016 Aug;28(4):545-50. doi: 10.1097/MOP.0000000000000378. PMID: 27386973
Primary amenorrhea: diagnosis and management.
Marsh CA, Grimstad FW
Obstet Gynecol Surv 2014 Oct;69(10):603-12. doi: 10.1097/OGX.0000000000000111. PMID: 25336070

Recent clinical studies

Etiology

A GABAergic neural circuit in the ventromedial hypothalamus mediates chronic stress-induced bone loss.
Yang F, Liu Y, Chen S, Dai Z, Yang D, Gao D, Shao J, Wang Y, Wang T, Zhang Z, Zhang L, Lu WW, Li Y, Wang L
J Clin Invest 2020 Dec 1;130(12):6539-6554. doi: 10.1172/JCI136105. PMID: 32910804Free PMC Article
Major depressive disorder.
Otte C, Gold SM, Penninx BW, Pariante CM, Etkin A, Fava M, Mohr DC, Schatzberg AF
Nat Rev Dis Primers 2016 Sep 15;2:16065. doi: 10.1038/nrdp.2016.65. PMID: 27629598
Rathke's cleft cyst.
Larkin S, Karavitaki N, Ansorge O
Handb Clin Neurol 2014;124:255-69. doi: 10.1016/B978-0-444-59602-4.00017-4. PMID: 25248592
Circadian rhythm abnormalities.
Zee PC, Attarian H, Videnovic A
Continuum (Minneap Minn) 2013 Feb;19(1 Sleep Disorders):132-47. doi: 10.1212/01.CON.0000427209.21177.aa. PMID: 23385698Free PMC Article
The hypothalamus.
Settle M
Neonatal Netw 2000 Sep;19(6):9-14. doi: 10.1891/0730-0832.19.6.9. PMID: 11949123

Diagnosis

Neuroimaging of the Pituitary Gland: Practical Anatomy and Pathology.
Chapman PR, Singhal A, Gaddamanugu S, Prattipati V
Radiol Clin North Am 2020 Nov;58(6):1115-1133. Epub 2020 Sep 17 doi: 10.1016/j.rcl.2020.07.009. PMID: 33040852
Diabetes insipidus.
Christ-Crain M, Bichet DG, Fenske WK, Goldman MB, Rittig S, Verbalis JG, Verkman AS
Nat Rev Dis Primers 2019 Aug 8;5(1):54. doi: 10.1038/s41572-019-0103-2. PMID: 31395885
Major depressive disorder.
Otte C, Gold SM, Penninx BW, Pariante CM, Etkin A, Fava M, Mohr DC, Schatzberg AF
Nat Rev Dis Primers 2016 Sep 15;2:16065. doi: 10.1038/nrdp.2016.65. PMID: 27629598
Rathke's cleft cyst.
Larkin S, Karavitaki N, Ansorge O
Handb Clin Neurol 2014;124:255-69. doi: 10.1016/B978-0-444-59602-4.00017-4. PMID: 25248592
Septo-optic dysplasia.
Ferran Kd, Paiva IA, Gilban DL, Resende M, Souza MA, Beserra IC, Guimarães MM
Arq Neuropsiquiatr 2010 Jun;68(3):400-5. doi: 10.1590/s0004-282x2010000300014. PMID: 20602044

Therapy

Endocrine and Metabolic Manifestations of Snakebite Envenoming.
Bhattacharya S, Krishnamurthy A, Gopalakrishnan M, Kalra S, Kantroo V, Aggarwal S, Surana V
Am J Trop Med Hyg 2020 Oct;103(4):1388-1396. doi: 10.4269/ajtmh.20-0161. PMID: 32602439Free PMC Article
Pituitary dysfunction in granulomatosis with polyangiitis.
Esposito D, Trimpou P, Giugliano D, Dehlin M, Ragnarsson O
Pituitary 2017 Oct;20(5):594-601. doi: 10.1007/s11102-017-0811-0. PMID: 28540625Free PMC Article
Major depressive disorder.
Otte C, Gold SM, Penninx BW, Pariante CM, Etkin A, Fava M, Mohr DC, Schatzberg AF
Nat Rev Dis Primers 2016 Sep 15;2:16065. doi: 10.1038/nrdp.2016.65. PMID: 27629598
Exogenous and evoked oxytocin restores social behavior in the Cntnap2 mouse model of autism.
Peñagarikano O, Lázaro MT, Lu XH, Gordon A, Dong H, Lam HA, Peles E, Maidment NT, Murphy NP, Yang XW, Golshani P, Geschwind DH
Sci Transl Med 2015 Jan 21;7(271):271ra8. doi: 10.1126/scitranslmed.3010257. PMID: 25609168Free PMC Article
Adolescent menstrual irregularity.
Mansfield MJ, Emans SJ
J Reprod Med 1984 Jun;29(6):399-410. PMID: 6379175

Prognosis

Autoimmune Glial Fibrillary Acidic Protein Astrocytopathy: A Review of the Literature.
Shan F, Long Y, Qiu W
Front Immunol 2018;9:2802. Epub 2018 Dec 5 doi: 10.3389/fimmu.2018.02802. PMID: 30568655Free PMC Article
The neuropathology of traumatic brain injury.
Mckee AC, Daneshvar DH
Handb Clin Neurol 2015;127:45-66. doi: 10.1016/B978-0-444-52892-6.00004-0. PMID: 25702209Free PMC Article
Neuroimaging in rabies.
Laothamatas J, Sungkarat W, Hemachudha T
Adv Virus Res 2011;79:309-27. doi: 10.1016/B978-0-12-387040-7.00014-7. PMID: 21601052
The craniopharyngioma.
Oskouian RJ, Samii A, Laws ERJ Jr
Front Horm Res 2006;34:105-126. doi: 10.1159/000091578. PMID: 16474218
The hypothalamus.
Settle M
Neonatal Netw 2000 Sep;19(6):9-14. doi: 10.1891/0730-0832.19.6.9. PMID: 11949123

Clinical prediction guides

Architects of Pituitary Tumour Growth.
Sabatino ME, Grondona E, De Paul AL
Front Endocrinol (Lausanne) 2022;13:924942. Epub 2022 Jun 28 doi: 10.3389/fendo.2022.924942. PMID: 35837315Free PMC Article
Cranial Pair 0: The Nervus Terminalis.
Peña-Melián Á, Cabello-de la Rosa JP, Gallardo-Alcañiz MJ, Vaamonde-Gamo J, Relea-Calatayud F, González-López L, Villanueva-Anguita P, Flores-Cuadrado A, Saiz-Sánchez D, Martínez-Marcos A
Anat Rec (Hoboken) 2019 Mar;302(3):394-404. Epub 2018 May 17 doi: 10.1002/ar.23826. PMID: 29663690
PIT1 abnormality.
Tatsumi K, Amino N
Growth Horm IGF Res 1999 Jun;9 Suppl B:18-22; discussion 23. doi: 10.1016/s1096-6374(99)80076-8. PMID: 10549301
Pituitary incidentalomas.
Molitch ME
Endocrinol Metab Clin North Am 1997 Dec;26(4):725-40. doi: 10.1016/s0889-8529(05)70279-6. PMID: 9429857
Anorexia nervosa.
Schwabe AD, Lippe BM, Chang RJ, Pops MA, Yager J
Ann Intern Med 1981 Mar;94(3):371-81. doi: 10.7326/0003-4819-94-3-371. PMID: 7013596

Recent systematic reviews

Pituitary dysfunction in granulomatosis with polyangiitis.
Esposito D, Trimpou P, Giugliano D, Dehlin M, Ragnarsson O
Pituitary 2017 Oct;20(5):594-601. doi: 10.1007/s11102-017-0811-0. PMID: 28540625Free PMC Article
Hypothalamic-pituitary-adrenal axis function in Fragile X Syndrome and its relationship to behaviour: A systematic review.
Hardiman RL, Bratt A
Physiol Behav 2016 Dec 1;167:341-353. Epub 2016 Oct 5 doi: 10.1016/j.physbeh.2016.09.030. PMID: 27720735
A systematic review of the activity of the hypothalamic-pituitary-adrenal axis in first episode psychosis.
Borges S, Gayer-Anderson C, Mondelli V
Psychoneuroendocrinology 2013 May;38(5):603-11. Epub 2013 Jan 28 doi: 10.1016/j.psyneuen.2012.12.025. PMID: 23369532
WITHDRAWN: Clomiphene or tamoxifen for idiopathic oligo/asthenospermia.
Vandekerckhove P, Lilford R, Vail A, Hughes E
Cochrane Database Syst Rev 2007 Jul 18;(4):CD000151. doi: 10.1002/14651858.CD000151. PMID: 17636604
Clomiphene or tamoxifen for idiopathic oligo/asthenospermia.
Vandekerckhove P, Lilford R, Vail A, Hughes E
Cochrane Database Syst Rev 2000;1996(2):CD000151. doi: 10.1002/14651858.CD000151. PMID: 10796497Free PMC Article

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