U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Abnormal endocrine physiology

MedGen UID:
1384914
Concept ID:
C4476951
Finding
HPO: HP:0031072

Definition

Any anomaly of the function of the endocrine system. [from HPO]

Professional guidelines

PubMed

Sadeghi HM, Adeli I, Calina D, Docea AO, Mousavi T, Daniali M, Nikfar S, Tsatsakis A, Abdollahi M
Int J Mol Sci 2022 Jan 6;23(2) doi: 10.3390/ijms23020583. PMID: 35054768Free PMC Article
Gravholt CH, Viuff MH, Brun S, Stochholm K, Andersen NH
Nat Rev Endocrinol 2019 Oct;15(10):601-614. Epub 2019 Jun 18 doi: 10.1038/s41574-019-0224-4. PMID: 31213699
Gravholt CH, Andersen NH, Conway GS, Dekkers OM, Geffner ME, Klein KO, Lin AE, Mauras N, Quigley CA, Rubin K, Sandberg DE, Sas TCJ, Silberbach M, Söderström-Anttila V, Stochholm K, van Alfen-van derVelden JA, Woelfle J, Backeljauw PF; International Turner Syndrome Consensus Group
Eur J Endocrinol 2017 Sep;177(3):G1-G70. doi: 10.1530/EJE-17-0430. PMID: 28705803

Recent clinical studies

Etiology

Bartik LE, Hughes SS, Tracy M, Feldt MM, Zhang L, Arganbright J, Kaye A
Am J Med Genet A 2022 Mar;188(3):779-787. Epub 2021 Nov 29 doi: 10.1002/ajmg.a.62577. PMID: 34845825
Piantanida E, Ippolito S, Gallo D, Masiello E, Premoli P, Cusini C, Rosetti S, Sabatino J, Segato S, Trimarchi F, Bartalena L, Tanda ML
J Endocrinol Invest 2020 Jul;43(7):885-899. Epub 2020 Mar 12 doi: 10.1007/s40618-020-01208-6. PMID: 32166702
Wang YR, Xu NX, Wang J, Wang XM
World J Pediatr 2019 Dec;15(6):528-535. Epub 2019 Oct 5 doi: 10.1007/s12519-019-00309-4. PMID: 31587141
Ikegami K, Refetoff S, Van Cauter E, Yoshimura T
Nat Rev Endocrinol 2019 Oct;15(10):590-600. Epub 2019 Aug 12 doi: 10.1038/s41574-019-0237-z. PMID: 31406343Free 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

Bartik LE, Hughes SS, Tracy M, Feldt MM, Zhang L, Arganbright J, Kaye A
Am J Med Genet A 2022 Mar;188(3):779-787. Epub 2021 Nov 29 doi: 10.1002/ajmg.a.62577. PMID: 34845825
Merke DP, Auchus RJ
N Engl J Med 2020 Sep 24;383(13):1248-1261. doi: 10.1056/NEJMra1909786. PMID: 32966723
Ikegami K, Refetoff S, Van Cauter E, Yoshimura T
Nat Rev Endocrinol 2019 Oct;15(10):590-600. Epub 2019 Aug 12 doi: 10.1038/s41574-019-0237-z. PMID: 31406343Free PMC Article
J Steroid Biochem Mol Biol 2017 Jan;165(Pt A):1. doi: 10.1016/j.jsbmb.2016.11.007. PMID: 27890074
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

Therapy

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
Merke DP, Auchus RJ
N Engl J Med 2020 Sep 24;383(13):1248-1261. doi: 10.1056/NEJMra1909786. PMID: 32966723
Piantanida E, Ippolito S, Gallo D, Masiello E, Premoli P, Cusini C, Rosetti S, Sabatino J, Segato S, Trimarchi F, Bartalena L, Tanda ML
J Endocrinol Invest 2020 Jul;43(7):885-899. Epub 2020 Mar 12 doi: 10.1007/s40618-020-01208-6. PMID: 32166702
Rachdaoui N, Sarkar DK
Alcohol Res 2017;38(2):255-276. PMID: 28988577Free PMC Article
Demarest SP, Gill RS, Adler RA
Endocr Pract 2015 Feb;21(2):190-8. doi: 10.4158/EP14339.RA. PMID: 25536970

Prognosis

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
Urakami T
Minerva Pediatr 2020 Dec;72(6):472-483. Epub 2020 Aug 4 doi: 10.23736/S0026-4946.20.05971-X. PMID: 32748612
Abduljabbar MA, Afifi AM
J Pediatr Endocrinol Metab 2012;25(1-2):13-29. doi: 10.1515/jpem.2011.408. PMID: 22570946
Freda PU, Beckers AM, Katznelson L, Molitch ME, Montori VM, Post KD, Vance ML; Endocrine Society
J Clin Endocrinol Metab 2011 Apr;96(4):894-904. doi: 10.1210/jc.2010-1048. PMID: 21474686Free PMC Article
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

Clinical prediction guides

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
Urakami T
Minerva Pediatr 2020 Dec;72(6):472-483. Epub 2020 Aug 4 doi: 10.23736/S0026-4946.20.05971-X. PMID: 32748612
Piantanida E, Ippolito S, Gallo D, Masiello E, Premoli P, Cusini C, Rosetti S, Sabatino J, Segato S, Trimarchi F, Bartalena L, Tanda ML
J Endocrinol Invest 2020 Jul;43(7):885-899. Epub 2020 Mar 12 doi: 10.1007/s40618-020-01208-6. PMID: 32166702
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
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

Gravholt CH, Andersen NH, Conway GS, Dekkers OM, Geffner ME, Klein KO, Lin AE, Mauras N, Quigley CA, Rubin K, Sandberg DE, Sas TCJ, Silberbach M, Söderström-Anttila V, Stochholm K, van Alfen-van derVelden JA, Woelfle J, Backeljauw PF; International Turner Syndrome Consensus Group
Eur J Endocrinol 2017 Sep;177(3):G1-G70. doi: 10.1530/EJE-17-0430. PMID: 28705803
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
Irani M, Merhi Z
Fertil Steril 2014 Aug;102(2):460-468.e3. Epub 2014 Jun 3 doi: 10.1016/j.fertnstert.2014.04.046. PMID: 24933120
Lerchbaum E, Obermayer-Pietsch B
Eur J Endocrinol 2012 May;166(5):765-78. Epub 2012 Jan 24 doi: 10.1530/EJE-11-0984. PMID: 22275473
Azziz R, Carmina E, Dewailly D, Diamanti-Kandarakis E, Escobar-Morreale HF, Futterweit W, Janssen OE, Legro RS, Norman RJ, Taylor AE, Witchel SF; Task Force on the Phenotype of the Polycystic Ovary Syndrome of The Androgen Excess and PCOS Society
Fertil Steril 2009 Feb;91(2):456-88. Epub 2008 Oct 23 doi: 10.1016/j.fertnstert.2008.06.035. PMID: 18950759

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...