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Abnormal endocrine morphology

MedGen UID:
1376980
Concept ID:
C4476950
Anatomical Abnormality
HPO: HP:0031071

Definition

Any anomaly of the structure of an organ ofthe endocrine system. [from HPO]

Professional guidelines

PubMed

Rudnicka E, Kunicki M, Calik-Ksepka A, Suchta K, Duszewska A, Smolarczyk K, Smolarczyk R
Int J Mol Sci 2021 Nov 19;22(22) doi: 10.3390/ijms222212507. PMID: 34830389Free PMC Article
Khan J, Asoom LIA, Sunni AA, Rafique N, Latif R, Saif SA, Almandil NB, Almohazey D, AbdulAzeez S, Borgio JF
Biomed Pharmacother 2021 Jul;139:111557. Epub 2021 May 17 doi: 10.1016/j.biopha.2021.111557. PMID: 34243621
Zennaro MC, Boulkroun S, Fernandes-Rosa FL
Nat Rev Endocrinol 2020 Oct;16(10):578-589. Epub 2020 Jul 28 doi: 10.1038/s41574-020-0382-4. PMID: 32724183

Recent clinical studies

Etiology

Eggers S, Sadedin S, van den Bergen JA, Robevska G, Ohnesorg T, Hewitt J, Lambeth L, Bouty A, Knarston IM, Tan TY, Cameron F, Werther G, Hutson J, O'Connell M, Grover SR, Heloury Y, Zacharin M, Bergman P, Kimber C, Brown J, Webb N, Hunter MF, Srinivasan S, Titmuss A, Verge CF, Mowat D, Smith G, Smith J, Ewans L, Shalhoub C, Crock P, Cowell C, Leong GM, Ono M, Lafferty AR, Huynh T, Visser U, Choong CS, McKenzie F, Pachter N, Thompson EM, Couper J, Baxendale A, Gecz J, Wheeler BJ, Jefferies C, MacKenzie K, Hofman P, Carter P, King RI, Krausz C, van Ravenswaaij-Arts CM, Looijenga L, Drop S, Riedl S, Cools M, Dawson A, Juniarto AZ, Khadilkar V, Khadilkar A, Bhatia V, Dũng VC, Atta I, Raza J, Thi Diem Chi N, Hao TK, Harley V, Koopman P, Warne G, Faradz S, Oshlack A, Ayers KL, Sinclair AH
Genome Biol 2016 Nov 29;17(1):243. doi: 10.1186/s13059-016-1105-y. PMID: 27899157Free PMC Article
Normile D
Science 2016 Mar 4;351(6277):1022-3. doi: 10.1126/science.351.6277.1022. PMID: 26941301
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
Ferraz-de-Souza B, Achermann JC
Endocr Dev 2008;13:19-32. doi: 10.1159/000134753. PMID: 18493131
Balaji KC, Caldamone AA, Rabinowitz R, Ortenberg J, Diamond DA
J Urol 1996 Aug;156(2 Pt 2):854-6. doi: 10.1097/00005392-199608001-00086. PMID: 8683800

Diagnosis

Cicirelli V, Burgio M, Mrenoshki D, Cseh S, Aiudi G, Lacalandra GM
Vet Med Sci 2023 Mar;9(2):600-603. Epub 2023 Jan 3 doi: 10.1002/vms3.1033. PMID: 36597410Free PMC Article
Yalniz C, Morani AC, Waguespack SG, Elsayes KM
Radiol Clin North Am 2020 Nov;58(6):1099-1113. Epub 2020 Sep 17 doi: 10.1016/j.rcl.2020.07.010. PMID: 33040851
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
Johnson NA, Carty SE, Tublin ME
Radiol Clin North Am 2011 May;49(3):489-509, vi. doi: 10.1016/j.rcl.2011.02.009. PMID: 21569907
Goldenberg JD, Holinger LD, Bressler FJ, Hutchinson LR
Ann Otol Rhinol Laryngol 1996 Feb;105(2):155-7. doi: 10.1177/000348949610500211. PMID: 8659937

Therapy

Merke DP, Auchus RJ
N Engl J Med 2020 Sep 24;383(13):1248-1261. doi: 10.1056/NEJMra1909786. PMID: 32966723
Zeng X, Xie YJ, Liu YT, Long SL, Mo ZC
Clin Chim Acta 2020 Mar;502:214-221. Epub 2019 Nov 13 doi: 10.1016/j.cca.2019.11.003. PMID: 31733195
Normile D
Science 2016 Mar 4;351(6277):1022-3. doi: 10.1126/science.351.6277.1022. PMID: 26941301
Jaslow CR
Obstet Gynecol Clin North Am 2014 Mar;41(1):57-86. doi: 10.1016/j.ogc.2013.10.002. PMID: 24491984
Wensing CJ
Horm Res 1988;30(4-5):144-52. doi: 10.1159/000181051. PMID: 2907890

Prognosis

Hagen CP, Fischer MB, Mola G, Mikkelsen TB, Cleemann LH, Gravholt CH, Viuff MH, Juul A, Pedersen AT, Main KM
Front Endocrinol (Lausanne) 2023;14:1173600. Epub 2023 Jun 29 doi: 10.3389/fendo.2023.1173600. PMID: 37455919Free PMC Article
Yalniz C, Morani AC, Waguespack SG, Elsayes KM
Radiol Clin North Am 2020 Nov;58(6):1099-1113. Epub 2020 Sep 17 doi: 10.1016/j.rcl.2020.07.010. PMID: 33040851
Abu-Khudir R, Larrivée-Vanier S, Wasserman JD, Deladoëy J
Best Pract Res Clin Endocrinol Metab 2017 Mar;31(2):143-159. Epub 2017 Apr 21 doi: 10.1016/j.beem.2017.04.008. PMID: 28648504
Settle M
Neonatal Netw 2000 Sep;19(6):9-14. doi: 10.1891/0730-0832.19.6.9. PMID: 11949123
Rabinowitz R, Hulbert WC Jr
Pediatr Rev 1994 Jul;15(7):272-4. doi: 10.1542/pir.15-7-272. PMID: 7916154

Clinical prediction guides

Dean B, Chrisp GL, Quartararo M, Maguire AM, Hameed S, King BR, Munns CF, Torpy DJ, Falhammar H, Rushworth RL
J Clin Endocrinol Metab 2020 Mar 1;105(3) doi: 10.1210/clinem/dgz255. PMID: 31825489
Nistal M, Paniagua R, González-Peramato P, Reyes-Múgica M
Pediatr Dev Pathol 2015 Jul-Aug;18(4):279-96. Epub 2014 Aug 8 doi: 10.2350/14-04-1465-PB.1. PMID: 25105706
Nistal M, Paniagua R, González-Peramato P, Reyes-Múgica M
Pediatr Dev Pathol 2015 Jul-Aug;18(4):259-78. Epub 2014 Aug 8 doi: 10.2350/14-04-1471-PB.1. PMID: 25105336
Hutson JM, Balic A, Nation T, Southwell B
Semin Pediatr Surg 2010 Aug;19(3):215-24. doi: 10.1053/j.sempedsurg.2010.04.001. PMID: 20610195
Hadziselimovic F, Girard J
Horm Res 1977;8(2):76-83. doi: 10.1159/000178783. PMID: 20399

Recent systematic reviews

Sanchez-Garrido MA, Tena-Sempere M
Mol Metab 2020 May;35:100937. Epub 2020 Feb 5 doi: 10.1016/j.molmet.2020.01.001. PMID: 32244180Free PMC Article
Payne KS, Mazur DJ, Hotaling JM, Pastuszak AW
J Urol 2019 Oct;202(4):674-681. Epub 2019 Sep 6 doi: 10.1097/JU.0000000000000248. PMID: 30916627Free PMC Article
Dasgupta R, Renaud E, Goldin AB, Baird R, Cameron DB, Arnold MA, Diefenbach KA, Gosain A, Grabowski J, Guner YS, Jancelewicz T, Kawaguchi A, Lal DR, Oyetunji TA, Ricca RL, Shelton J, Somme S, Williams RF, Downard CD
J Pediatr Surg 2018 Jul;53(7):1387-1391. Epub 2017 Nov 16 doi: 10.1016/j.jpedsurg.2017.10.053. PMID: 29153467
Caputo C, Wood E, Jabbour L
Birth Defects Res C Embryo Today 2016 Jun;108(2):174-80. Epub 2016 Jun 13 doi: 10.1002/bdrc.21129. PMID: 27297122
Gunes S, Hekim GN, Arslan MA, Asci R
J Assist Reprod Genet 2016 Apr;33(4):441-54. Epub 2016 Feb 11 doi: 10.1007/s10815-016-0663-y. PMID: 26867640Free PMC Article

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