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Abnormality of the diencephalon

MedGen UID:
869326
•Concept ID:
C4023752
•
Anatomical Abnormality
HPO: HP:0010662

Definition

An abnormality of the Diencephalon, which together with the cerebrum (telencephalon) makes up the forebrain. [from HPO]

Professional guidelines

PubMed

The hypothalamic-pituitary-adrenal axis in PTSD: Pathophysiology and treatment interventions.
Dunlop BW, Wong A
Prog Neuropsychopharmacol Biol Psychiatry 2019 Mar 8;89:361-379. Epub 2018 Oct 17 doi: 10.1016/j.pnpbp.2018.10.010. PMID: 30342071
Disorders of Puberty: An Approach to Diagnosis and Management.
Klein DA, Emerick JE, Sylvester JE, Vogt KS
Am Fam Physician 2017 Nov 1;96(9):590-599. PMID: 29094880
Central post-stroke pain: clinical characteristics, pathophysiology, and management.
Klit H, Finnerup NB, Jensen TS
Lancet Neurol 2009 Sep;8(9):857-68. doi: 10.1016/S1474-4422(09)70176-0. PMID: 19679277

Recent clinical studies

Etiology

Hypothalamic syndrome.
Müller HL, Tauber M, Lawson EA, Özyurt J, Bison B, Martinez-Barbera JP, Puget S, Merchant TE, van Santen HM
Nat Rev Dis Primers 2022 Apr 21;8(1):24. doi: 10.1038/s41572-022-00351-z. PMID: 35449162
Clinical advances in the pharmacotherapy of congenital adrenal hyperplasia.
Prete A, Auchus RJ, Ross RJ
Eur J Endocrinol 2021 Nov 30;186(1):R1-R14. doi: 10.1530/EJE-21-0794. PMID: 34735372Free PMC Article
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
Clinical review: Klinefelter syndrome--a clinical update.
Groth KA, Skakkebæk A, Høst C, Gravholt CH, Bojesen A
J Clin Endocrinol Metab 2013 Jan;98(1):20-30. Epub 2012 Nov 1 doi: 10.1210/jc.2012-2382. PMID: 23118429
Epilepsy.
Koepp MJ, Duncan JS
Curr Opin Neurol 2004 Aug;17(4):467-74. doi: 10.1097/01.wco.0000137539.91738.2b. PMID: 15247544

Diagnosis

The Congenital and Acquired Mechanisms Implicated in the Etiology of Central Precocious Puberty.
Brito VN, Canton APM, Seraphim CE, Abreu AP, Macedo DB, Mendonca BB, Kaiser UB, Argente J, Latronico AC
Endocr Rev 2023 Mar 4;44(2):193-221. doi: 10.1210/endrev/bnac020. PMID: 35930274Free PMC Article
Hypothalamic syndrome.
Müller HL, Tauber M, Lawson EA, Özyurt J, Bison B, Martinez-Barbera JP, Puget S, Merchant TE, van Santen HM
Nat Rev Dis Primers 2022 Apr 21;8(1):24. doi: 10.1038/s41572-022-00351-z. PMID: 35449162
Mechanisms of Central Hypogonadism.
Barber TM, Kyrou I, Kaltsas G, Grossman AB, Randeva HS, Weickert MO
Int J Mol Sci 2021 Jul 30;22(15) doi: 10.3390/ijms22158217. PMID: 34360982Free PMC Article
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
Clinical review: Klinefelter syndrome--a clinical update.
Groth KA, Skakkebæk A, Høst C, Gravholt CH, Bojesen A
J Clin Endocrinol Metab 2013 Jan;98(1):20-30. Epub 2012 Nov 1 doi: 10.1210/jc.2012-2382. PMID: 23118429

Therapy

GnRH replacement rescues cognition in Down syndrome.
Manfredi-Lozano M, Leysen V, Adamo M, Paiva I, Rovera R, Pignat JM, Timzoura FE, Candlish M, Eddarkaoui S, Malone SA, Silva MSB, Trova S, Imbernon M, Decoster L, Cotellessa L, Tena-Sempere M, Claret M, Paoloni-Giacobino A, Plassard D, Paccou E, Vionnet N, Acierno J, Maceski AM, Lutti A, Pfrieger F, Rasika S, Santoni F, Boehm U, Ciofi P, Buée L, Haddjeri N, Boutillier AL, Kuhle J, Messina A, Draganski B, Giacobini P, Pitteloud N, Prevot V
Science 2022 Sep 2;377(6610):eabq4515. doi: 10.1126/science.abq4515. PMID: 36048943Free PMC Article
Clinical advances in the pharmacotherapy of congenital adrenal hyperplasia.
Prete A, Auchus RJ, Ross RJ
Eur J Endocrinol 2021 Nov 30;186(1):R1-R14. doi: 10.1530/EJE-21-0794. PMID: 34735372Free PMC Article
Pathophysiology of the Effects of Alcohol Abuse on the Endocrine System.
Rachdaoui N, Sarkar DK
Alcohol Res 2017;38(2):255-276. PMID: 28988577Free 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

Prognosis

The timeline of neuronal and glial alterations in experimental obesity.
Engel DF, Velloso LA
Neuropharmacology 2022 May 1;208:108983. Epub 2022 Feb 8 doi: 10.1016/j.neuropharm.2022.108983. PMID: 35143850
Congenital Achiasma.
Lecler A, Attye A, Edelson C
J Neuroophthalmol 2018 Sep;38(3):344-346. doi: 10.1097/WNO.0000000000000650. PMID: 29561327
Deep brain stimulation for drug-resistant epilepsy.
Li MCH, Cook MJ
Epilepsia 2018 Feb;59(2):273-290. Epub 2017 Dec 7 doi: 10.1111/epi.13964. PMID: 29218702
Tracking posttraumatic hemianopia.
Decramer T, Van Keer K, Stalmans P, Dupont P, Sunaert S, Theys T
J Neurol 2018 Jan;265(1):41-45. Epub 2017 Nov 6 doi: 10.1007/s00415-017-8661-2. PMID: 29110092
Cushing's syndrome.
Lacroix A, Feelders RA, Stratakis CA, Nieman LK
Lancet 2015 Aug 29;386(9996):913-27. Epub 2015 May 21 doi: 10.1016/S0140-6736(14)61375-1. PMID: 26004339

Clinical prediction guides

Cerebral blood flow self-regulation in depression.
Liu M, He E, Fu X, Gong S, Han Y, Deng F
J Affect Disord 2022 Apr 1;302:324-331. Epub 2022 Jan 13 doi: 10.1016/j.jad.2022.01.057. PMID: 35032508
The implications of hypothalamic abnormalities for schizophrenia.
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
Endocrine disorders in Prader-Willi syndrome: a model to understand and treat hypothalamic dysfunction.
Tauber M, Hoybye C
Lancet Diabetes Endocrinol 2021 Apr;9(4):235-246. Epub 2021 Feb 26 doi: 10.1016/S2213-8587(21)00002-4. PMID: 33647242
The basal ganglia and the cerebellum: nodes in an integrated network.
Bostan AC, Strick PL
Nat Rev Neurosci 2018 Jun;19(6):338-350. doi: 10.1038/s41583-018-0002-7. PMID: 29643480Free PMC Article
Deep brain stimulation for drug-resistant epilepsy.
Li MCH, Cook MJ
Epilepsia 2018 Feb;59(2):273-290. Epub 2017 Dec 7 doi: 10.1111/epi.13964. PMID: 29218702

Recent systematic reviews

Systematic review of pineal cysts surgery in pediatric patients.
Choque-Velasquez J, Colasanti R, Baluszek S, Resendiz-Nieves J, Muhammad S, Ludtka C, Hernesniemi J
Childs Nerv Syst 2020 Dec;36(12):2927-2938. Epub 2020 Jul 20 doi: 10.1007/s00381-020-04792-3. PMID: 32691194Free PMC Article
Comparative meta-analyses of brain structural and functional abnormalities during cognitive control in attention-deficit/hyperactivity disorder and autism spectrum disorder.
Lukito S, Norman L, Carlisi C, Radua J, Hart H, Simonoff E, Rubia K
Psychol Med 2020 Apr;50(6):894-919. Epub 2020 Mar 27 doi: 10.1017/S0033291720000574. PMID: 32216846Free 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
The HPA axis in bipolar disorder: Systematic review and meta-analysis.
Belvederi Murri M, Prestia D, Mondelli V, Pariante C, Patti S, Olivieri B, Arzani C, Masotti M, Respino M, Antonioli M, Vassallo L, Serafini G, Perna G, Pompili M, Amore M
Psychoneuroendocrinology 2016 Jan;63:327-42. Epub 2015 Oct 21 doi: 10.1016/j.psyneuen.2015.10.014. PMID: 26547798
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

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