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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

Genetics, pathophysiology, diagnosis, treatment, management, and prevention of migraine.
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
Pathogenesis and treatment of primary aldosteronism.
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
Endometriosis-associated infertility: aspects of pathophysiological mechanisms and treatment options.
Tanbo T, Fedorcsak P
Acta Obstet Gynecol Scand 2017 Jun;96(6):659-667. Epub 2017 Jan 30 doi: 10.1111/aogs.13082. PMID: 27998009

Recent clinical studies

Etiology

Genetics of primary ovarian insufficiency.
Rossetti R, Ferrari I, Bonomi M, Persani L
Clin Genet 2017 Feb;91(2):183-198. Epub 2016 Dec 12 doi: 10.1111/cge.12921. PMID: 27861765
Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort.
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
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
Maldescendus testis.
Toppari J, Kaleva M
Horm Res 1999 Dec;51(6):261-9. doi: 10.1159/000023412. PMID: 10640886
Adolescent menstrual irregularity.
Mansfield MJ, Emans SJ
J Reprod Med 1984 Jun;29(6):399-410. PMID: 6379175

Diagnosis

Imaging of Adrenal-Related Endocrine Disorders.
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
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
Parathyroid imaging.
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
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
Adolescent menstrual irregularity.
Mansfield MJ, Emans SJ
J Reprod Med 1984 Jun;29(6):399-410. PMID: 6379175

Therapy

Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.
Merke DP, Auchus RJ
N Engl J Med 2020 Sep 24;383(13):1248-1261. doi: 10.1056/NEJMra1909786. PMID: 32966723
Polycystic ovarian syndrome: Correlation between hyperandrogenism, insulin resistance and obesity.
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
Uterine factors.
Jaslow CR
Obstet Gynecol Clin North Am 2014 Mar;41(1):57-86. doi: 10.1016/j.ogc.2013.10.002. PMID: 24491984
Maldescendus testis.
Toppari J, Kaleva M
Horm Res 1999 Dec;51(6):261-9. doi: 10.1159/000023412. PMID: 10640886
Adolescent menstrual irregularity.
Mansfield MJ, Emans SJ
J Reprod Med 1984 Jun;29(6):399-410. PMID: 6379175

Prognosis

Imaging of Adrenal-Related Endocrine Disorders.
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
Genetics of primary ovarian insufficiency.
Rossetti R, Ferrari I, Bonomi M, Persani L
Clin Genet 2017 Feb;91(2):183-198. Epub 2016 Dec 12 doi: 10.1111/cge.12921. PMID: 27861765
Cryptorchidism.
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
Alström syndrome.
Marshall JD, Beck S, Maffei P, Naggert JK
Eur J Hum Genet 2007 Dec;15(12):1193-202. Epub 2007 Oct 17 doi: 10.1038/sj.ejhg.5201933. PMID: 17940554
Maldescendus testis.
Toppari J, Kaleva M
Horm Res 1999 Dec;51(6):261-9. doi: 10.1159/000023412. PMID: 10640886

Clinical prediction guides

Genetics of primary ovarian insufficiency.
Rossetti R, Ferrari I, Bonomi M, Persani L
Clin Genet 2017 Feb;91(2):183-198. Epub 2016 Dec 12 doi: 10.1111/cge.12921. PMID: 27861765
Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort.
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
Cryptorchidism.
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
Maldescendus testis.
Toppari J, Kaleva M
Horm Res 1999 Dec;51(6):261-9. doi: 10.1159/000023412. PMID: 10640886
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

Metabolic dysfunction in polycystic ovary syndrome: Pathogenic role of androgen excess and potential therapeutic strategies.
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
Cannabis and Male Fertility: A Systematic Review.
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
Ovarian torsion in pediatric and adolescent patients: A systematic review.
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
Impact of fetal alcohol exposure on body systems: A systematic review.
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
Effects of aging on the male reproductive system.
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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