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Dysgenesis of the hypothalamus

MedGen UID:
1368434
Concept ID:
C4476588
Congenital Abnormality
Synonym: Hypothalamic dysgenesis
 
HPO: HP:0025098

Definition

Structural abnormality of the hypothalamus related to defective development. [from HPO]

Term Hierarchy

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
Cortes D, Holt R, de Knegt VE
Eur J Pediatr Surg 2016 Oct;26(5):409-417. Epub 2016 Sep 19 doi: 10.1055/s-0036-1592415. PMID: 27642852
Marsh CA, Grimstad FW
Obstet Gynecol Surv 2014 Oct;69(10):603-12. doi: 10.1097/OGX.0000000000000111. PMID: 25336070

Recent clinical studies

Etiology

Lee SC, Baranowski ES, Sakremath R, Saraff V, Mohamed Z
Front Endocrinol (Lausanne) 2023;14:1198519. Epub 2023 Nov 20 doi: 10.3389/fendo.2023.1198519. PMID: 38053731Free PMC Article
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
Höybye C, Tauber M
J Clin Endocrinol Metab 2022 May 17;107(6):1698-1705. doi: 10.1210/clinem/dgac082. PMID: 35150573Free PMC Article
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
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

Diagnosis

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
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
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
Richard-Eaglin A
Nurs Clin North Am 2018 Sep;53(3):395-405. doi: 10.1016/j.cnur.2018.04.006. PMID: 30100005
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

Therapy

Lee SC, Baranowski ES, Sakremath R, Saraff V, Mohamed Z
Front Endocrinol (Lausanne) 2023;14:1198519. Epub 2023 Nov 20 doi: 10.3389/fendo.2023.1198519. PMID: 38053731Free PMC Article
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
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
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
Cortes D, Holt R, de Knegt VE
Eur J Pediatr Surg 2016 Oct;26(5):409-417. Epub 2016 Sep 19 doi: 10.1055/s-0036-1592415. PMID: 27642852

Prognosis

Höybye C, Tauber M
J Clin Endocrinol Metab 2022 May 17;107(6):1698-1705. doi: 10.1210/clinem/dgac082. PMID: 35150573Free PMC Article
Gregory LC, Dattani MT
J Clin Endocrinol Metab 2020 Jun 1;105(6) doi: 10.1210/clinem/dgz184. PMID: 31702014
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
Oskouian RJ, Samii A, Laws ERJ Jr
Front Horm Res 2006;34:105-126. doi: 10.1159/000091578. PMID: 16474218
Settle M
Neonatal Netw 2000 Sep;19(6):9-14. doi: 10.1891/0730-0832.19.6.9. PMID: 11949123

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
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
Gergics P
Exp Suppl 2019;111:263-298. doi: 10.1007/978-3-030-25905-1_13. PMID: 31588536
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
Bonomi M, Libri DV, Guizzardi F, Guarducci E, Maiolo E, Pignatti E, Asci R, Persani L; Idiopathic Central Hypogonadism Study Group of the Italian Societies of Endocrinology and Pediatric Endocrinology and Diabetes
Asian J Androl 2012 Jan;14(1):49-56. Epub 2011 Dec 5 doi: 10.1038/aja.2011.68. PMID: 22138902Free PMC Article

Recent systematic reviews

Khaleghi M, Vignolles-Jeong J, Otto B, Carrau R, Prevedello D
Clin Neurol Neurosurg 2024 Jan;236:108050. Epub 2023 Nov 10 doi: 10.1016/j.clineuro.2023.108050. PMID: 37995620
Srinivasan VM, Tarapore PE, Koester SW, Catapano JS, Rutledge C, Raygor KP, Lawton MT
J Neurosurg 2022 Feb 1;136(2):464-474. Epub 2021 Aug 13 doi: 10.3171/2021.1.JNS204162. PMID: 34388718
Çalışkan E, Şahin MN, Güldağ MA
Yale J Biol Med 2021 Dec;94(4):623-635. Epub 2021 Dec 29 PMID: 34970101Free PMC Article
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
Sawka AM, Lea J, Alshehri B, Straus S, Tsang RW, Brierley JD, Thabane L, Rotstein L, Gafni A, Ezzat S, Goldstein DP
Clin Endocrinol (Oxf) 2008 Apr;68(4):610-7. Epub 2007 Oct 31 doi: 10.1111/j.1365-2265.2007.03081.x. PMID: 17973944

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