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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

Polycystic Ovary Syndrome: A Comprehensive Review of Pathogenesis, Management, and Drug Repurposing.
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
Turner syndrome: mechanisms and management.
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
Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting.
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

22q11.2 duplications: Expanding the clinical presentation.
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
The interplay between thyroid and liver: implications for clinical practice.
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
Interconnection between circadian clocks and thyroid function.
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
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
Post-traumatic stress disorder: the neurobiological impact of psychological trauma.
Sherin JE, Nemeroff CB
Dialogues Clin Neurosci 2011;13(3):263-78. doi: 10.31887/DCNS.2011.13.2/jsherin. PMID: 22034143Free PMC Article

Diagnosis

22q11.2 duplications: Expanding the clinical presentation.
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
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
Interconnection between circadian clocks and thyroid function.
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
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
Electroencephalography.
Silverman D, Masland WS, Rodin EA
Prog Neurol Psychiatry 1968;23:303-37. PMID: 4305965

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
The interplay between thyroid and liver: implications for clinical practice.
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
Endocrinology.
Baxter MA, Sheppard MC
Postgrad Med J 1991 Jan;67(783):23-32. doi: 10.1136/pgmj.67.783.23. PMID: 2057422Free PMC Article
Hirsutism.
Morris DV
Clin Obstet Gynaecol 1985 Sep;12(3):649-74. PMID: 3905161
Systemic hypertension.
Rubin MI
Pediatr Clin North Am 1964 May;11(2):431-63. doi: 10.1016/s0031-3955(16)31556-5. PMID: 4875684

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
Tall stature in children and adolescents.
Urakami T
Minerva Pediatr 2020 Dec;72(6):472-483. Epub 2020 Aug 4 doi: 10.23736/S0026-4946.20.05971-X. PMID: 32748612
Disorders of thyroid morphogenesis.
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
Pituitary incidentaloma: an endocrine society clinical practice guideline.
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
Polyglandular autoimmune syndromes.
Trence DL, Morley JE, Handwerger BS
Am J Med 1984 Jul;77(1):107-16. doi: 10.1016/0002-9343(84)90444-3. PMID: 6377888

Clinical prediction guides

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
Tall stature in children and adolescents.
Urakami T
Minerva Pediatr 2020 Dec;72(6):472-483. Epub 2020 Aug 4 doi: 10.23736/S0026-4946.20.05971-X. PMID: 32748612
The interplay between thyroid and liver: implications for clinical practice.
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
Fragile X checklist.
Hagerman RJ, Amiri K, Cronister A
Am J Med Genet 1991 Feb-Mar;38(2-3):283-7. doi: 10.1002/ajmg.1320380223. PMID: 2018072
Polyglandular autoimmune syndromes.
Trence DL, Morley JE, Handwerger BS
Am J Med 1984 Jul;77(1):107-16. doi: 10.1016/0002-9343(84)90444-3. PMID: 6377888

Recent systematic reviews

Adipose Tissue Dysfunction in Polycystic Ovary Syndrome.
Bril F, Ezeh U, Amiri M, Hatoum S, Pace L, Chen YH, Bertrand F, Gower B, Azziz R
J Clin Endocrinol Metab 2023 Dec 21;109(1):10-24. doi: 10.1210/clinem/dgad356. PMID: 37329216Free PMC Article
Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting.
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
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
Role of vitamin D in ovarian physiology and its implication in reproduction: a systematic review.
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

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