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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

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
MANAGEMENT OF ENDOCRINE DISEASE: Pituitary 'incidentaloma': neuroradiological assessment and differential diagnosis.
Vasilev V, Rostomyan L, Daly AF, Potorac I, Zacharieva S, Bonneville JF, Beckers A
Eur J Endocrinol 2016 Oct;175(4):R171-84. Epub 2016 Apr 11 doi: 10.1530/EJE-15-1272. PMID: 27068689
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
The role of primary cilia in obesity and diabetes.
Volta F, Gerdes JM
Ann N Y Acad Sci 2017 Mar;1391(1):71-84. Epub 2016 Oct 5 doi: 10.1111/nyas.13216. PMID: 27706820
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
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
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
Pituitary stalk lesions.
Rupp D, Molitch M
Curr Opin Endocrinol Diabetes Obes 2008 Aug;15(4):339-45. doi: 10.1097/MED.0b013e3283050844. PMID: 18594274

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
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
Testosterone replacement in men.
Beg S, Al-Khoury L, Cunningham GR
Curr Opin Endocrinol Diabetes Obes 2008 Aug;15(4):364-70. doi: 10.1097/MED.0b013e328305081a. PMID: 18594278
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

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
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
A novel non-rapid-eye movement and rapid-eye-movement parasomnia with sleep breathing disorder associated with antibodies to IgLON5: a case series, characterisation of the antigen, and post-mortem study.
Sabater L, Gaig C, Gelpi E, Bataller L, Lewerenz J, Torres-Vega E, Contreras A, Giometto B, Compta Y, Embid C, Vilaseca I, Iranzo A, Santamaría J, Dalmau J, Graus F
Lancet Neurol 2014 Jun;13(6):575-86. Epub 2014 Apr 3 doi: 10.1016/S1474-4422(14)70051-1. PMID: 24703753Free PMC Article
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
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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