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Rare insulin-resistance syndrome

MedGen UID:
811410
•Concept ID:
C3714619
•
Disease or Syndrome
Synonym: Insulin Resistance Syndrome
 
Orphanet: ORPHA181368

Definition

A cluster of closely related metabolic abnormalities associated with insulin resistance that confer an increased risk of the development of type 2 diabetes and cardiovascular disease. These abnormalities may include obesity, high blood pressure, abnormal cholesterol levels, proteinuria, and/or polycystic ovary syndrome. [from NCI]

Professional guidelines

PubMed

The 2023 ACR/EULAR Antiphospholipid Syndrome Classification Criteria.
Barbhaiya M, Zuily S, Naden R, Hendry A, Manneville F, Amigo MC, Amoura Z, Andrade D, Andreoli L, Artim-Esen B, Atsumi T, Avcin T, Belmont HM, Bertolaccini ML, Branch DW, Carvalheiras G, Casini A, Cervera R, Cohen H, Costedoat-Chalumeau N, Crowther M, de Jesus G, Delluc A, Desai S, De Sancho M, Devreese KM, Diz-Kucukkaya R, Duarte-Garcia A, Frances C, Garcia D, Gris JC, Jordan N, Leaf RK, Kello N, Knight JS, Laskin C, Lee AI, Legault K, Levine SR, Levy RA, Limper M, Lockshin MD, Mayer-Pickel K, Musial J, Meroni PL, Orsolini G, Ortel TL, Pengo V, Petri M, Pons-Estel G, Gomez-Puerta JA, Raimboug Q, Roubey R, Sanna G, Seshan SV, Sciascia S, Tektonidou MG, Tincani A, Wahl D, Willis R, Yelnik C, Zuily C, Guillemin F, Costenbader K, Erkan D; ACR/EULAR APS Classification Criteria Collaborators
Arthritis Rheumatol 2023 Oct;75(10):1687-1702. Epub 2023 Aug 28 doi: 10.1002/art.42624. PMID: 37635643
IPNA clinical practice recommendations for the diagnosis and management of children with steroid-sensitive nephrotic syndrome.
Trautmann A, Boyer O, Hodson E, Bagga A, Gipson DS, Samuel S, Wetzels J, Alhasan K, Banerjee S, Bhimma R, Bonilla-Felix M, Cano F, Christian M, Hahn D, Kang HG, Nakanishi K, Safouh H, Trachtman H, Xu H, Cook W, Vivarelli M, Haffner D; International Pediatric Nephrology Association
Pediatr Nephrol 2023 Mar;38(3):877-919. Epub 2022 Oct 21 doi: 10.1007/s00467-022-05739-3. PMID: 36269406Free PMC Article
Epilepsy and cannabidiol: a guide to treatment.
Arzimanoglou A, Brandl U, Cross JH, Gil-Nagel A, Lagae L, Landmark CJ, Specchio N, Nabbout R, Thiele EA, Gubbay O, The Cannabinoids International Experts Panel; Collaborators
Epileptic Disord 2020 Feb 1;22(1):1-14. doi: 10.1684/epd.2020.1141. PMID: 32096470

Recent clinical studies

Etiology

Hypertriglyceridemia.
Chait A
Endocrinol Metab Clin North Am 2022 Sep;51(3):539-555. Epub 2022 Jul 4 doi: 10.1016/j.ecl.2022.02.010. PMID: 35963627
Approach to androgen excess in women: Clinical and biochemical insights.
Cussen L, McDonnell T, Bennett G, Thompson CJ, Sherlock M, O'Reilly MW
Clin Endocrinol (Oxf) 2022 Aug;97(2):174-186. Epub 2022 Mar 29 doi: 10.1111/cen.14710. PMID: 35349173Free PMC Article
Nutrition, Bioenergetics, and Metabolic Syndrome.
García-García FJ, Monistrol-Mula A, Cardellach F, Garrabou G
Nutrients 2020 Sep 11;12(9) doi: 10.3390/nu12092785. PMID: 32933003Free PMC Article
Diagnosis and management of Silver-Russell syndrome: first international consensus statement.
Wakeling EL, Brioude F, Lokulo-Sodipe O, O'Connell SM, Salem J, Bliek J, Canton AP, Chrzanowska KH, Davies JH, Dias RP, Dubern B, Elbracht M, Giabicani E, Grimberg A, Grønskov K, Hokken-Koelega AC, Jorge AA, Kagami M, Linglart A, Maghnie M, Mohnike K, Monk D, Moore GE, Murray PG, Ogata T, Petit IO, Russo S, Said E, Toumba M, Tümer Z, Binder G, Eggermann T, Harbison MD, Temple IK, Mackay DJ, Netchine I
Nat Rev Endocrinol 2017 Feb;13(2):105-124. Epub 2016 Sep 2 doi: 10.1038/nrendo.2016.138. PMID: 27585961
Genetics of Insulin Resistance and the Metabolic Syndrome.
Brown AE, Walker M
Curr Cardiol Rep 2016 Aug;18(8):75. doi: 10.1007/s11886-016-0755-4. PMID: 27312935Free PMC Article

Diagnosis

Approach to androgen excess in women: Clinical and biochemical insights.
Cussen L, McDonnell T, Bennett G, Thompson CJ, Sherlock M, O'Reilly MW
Clin Endocrinol (Oxf) 2022 Aug;97(2):174-186. Epub 2022 Mar 29 doi: 10.1111/cen.14710. PMID: 35349173Free PMC Article
Deconstructing a Syndrome: Genomic Insights Into PCOS Causal Mechanisms and Classification.
Dapas M, Dunaif A
Endocr Rev 2022 Nov 25;43(6):927-965. doi: 10.1210/endrev/bnac001. PMID: 35026001Free PMC Article
Postmenopausal hyperandrogenism.
Yoldemir T
Climacteric 2022 Apr;25(2):109-117. Epub 2021 May 14 doi: 10.1080/13697137.2021.1915273. PMID: 33988479
Cushing's syndrome: Overview of clinical presentation, diagnostic tools and complications.
Barbot M, Zilio M, Scaroni C
Best Pract Res Clin Endocrinol Metab 2020 Mar;34(2):101380. Epub 2020 Jan 30 doi: 10.1016/j.beem.2020.101380. PMID: 32165101
Diagnosis and management of Silver-Russell syndrome: first international consensus statement.
Wakeling EL, Brioude F, Lokulo-Sodipe O, O'Connell SM, Salem J, Bliek J, Canton AP, Chrzanowska KH, Davies JH, Dias RP, Dubern B, Elbracht M, Giabicani E, Grimberg A, Grønskov K, Hokken-Koelega AC, Jorge AA, Kagami M, Linglart A, Maghnie M, Mohnike K, Monk D, Moore GE, Murray PG, Ogata T, Petit IO, Russo S, Said E, Toumba M, Tümer Z, Binder G, Eggermann T, Harbison MD, Temple IK, Mackay DJ, Netchine I
Nat Rev Endocrinol 2017 Feb;13(2):105-124. Epub 2016 Sep 2 doi: 10.1038/nrendo.2016.138. PMID: 27585961

Therapy

Hypertriglyceridemia.
Chait A
Endocrinol Metab Clin North Am 2022 Sep;51(3):539-555. Epub 2022 Jul 4 doi: 10.1016/j.ecl.2022.02.010. PMID: 35963627
Thyroid Hormone Analogues: An Update.
Zucchi R
Thyroid 2020 Aug;30(8):1099-1105. Epub 2020 Apr 7 doi: 10.1089/thy.2020.0071. PMID: 32098589Free PMC Article
Natural Alternative Sweeteners and Diabetes Management.
Mejia E, Pearlman M
Curr Diab Rep 2019 Nov 21;19(12):142. doi: 10.1007/s11892-019-1273-8. PMID: 31754814
Diagnosis and treatment of lipodystrophy: a step-by-step approach.
Araújo-Vilar D, Santini F
J Endocrinol Invest 2019 Jan;42(1):61-73. Epub 2018 Apr 27 doi: 10.1007/s40618-018-0887-z. PMID: 29704234Free PMC Article
Diagnosis and management of Silver-Russell syndrome: first international consensus statement.
Wakeling EL, Brioude F, Lokulo-Sodipe O, O'Connell SM, Salem J, Bliek J, Canton AP, Chrzanowska KH, Davies JH, Dias RP, Dubern B, Elbracht M, Giabicani E, Grimberg A, Grønskov K, Hokken-Koelega AC, Jorge AA, Kagami M, Linglart A, Maghnie M, Mohnike K, Monk D, Moore GE, Murray PG, Ogata T, Petit IO, Russo S, Said E, Toumba M, Tümer Z, Binder G, Eggermann T, Harbison MD, Temple IK, Mackay DJ, Netchine I
Nat Rev Endocrinol 2017 Feb;13(2):105-124. Epub 2016 Sep 2 doi: 10.1038/nrendo.2016.138. PMID: 27585961

Prognosis

Childhood-onset Craniopharyngioma.
Otte A, Müller HL
J Clin Endocrinol Metab 2021 Sep 27;106(10):e3820-e3836. doi: 10.1210/clinem/dgab397. PMID: 34086900
Revesz syndrome revisited.
Karremann M, Neumaier-Probst E, Schlichtenbrede F, Beier F, Brümmendorf TH, Cremer FW, Bader P, Dürken M
Orphanet J Rare Dis 2020 Oct 23;15(1):299. doi: 10.1186/s13023-020-01553-y. PMID: 33097095Free PMC Article
Causes, consequences, and treatment of metabolically unhealthy fat distribution.
Stefan N
Lancet Diabetes Endocrinol 2020 Jul;8(7):616-627. doi: 10.1016/S2213-8587(20)30110-8. PMID: 32559477
The hyperornithinemia-hyperammonemia-homocitrullinuria syndrome.
Martinelli D, Diodato D, Ponzi E, Monné M, Boenzi S, Bertini E, Fiermonte G, Dionisi-Vici C
Orphanet J Rare Dis 2015 Mar 11;10:29. doi: 10.1186/s13023-015-0242-9. PMID: 25874378Free PMC Article
Rhabdomyolysis: an evaluation of 475 hospitalized patients.
Melli G, Chaudhry V, Cornblath DR
Medicine (Baltimore) 2005 Nov;84(6):377-385. doi: 10.1097/01.md.0000188565.48918.41. PMID: 16267412

Clinical prediction guides

Causes, consequences, and treatment of metabolically unhealthy fat distribution.
Stefan N
Lancet Diabetes Endocrinol 2020 Jul;8(7):616-627. doi: 10.1016/S2213-8587(20)30110-8. PMID: 32559477
Psychiatric disorders in women with polycystic ovary syndrome.
Rodriguez-Paris D, Remlinger-Molenda A, Kurzawa R, Głowińska A, Spaczyński R, Rybakowski F, Pawełczyk L, Banaszewska B
Psychiatr Pol 2019 Aug 31;53(4):955-966. doi: 10.12740/PP/OnlineFirst/93105. PMID: 31760419
Metabolic pathways and immunometabolism in rare kidney diseases.
Grayson PC, Eddy S, Taroni JN, Lightfoot YL, Mariani L, Parikh H, Lindenmeyer MT, Ju W, Greene CS, Godfrey B, Cohen CD, Krischer J, Kretzler M, Merkel PA; Vasculitis Clinical Research Consortium, the European Renal cDNA Bank cohort, and the Nephrotic Syndrome Study Network
Ann Rheum Dis 2018 Aug;77(8):1226-1233. Epub 2018 May 3 doi: 10.1136/annrheumdis-2017-212935. PMID: 29724730Free PMC Article
Mildly Elevated Liver Transaminase Levels: Causes and Evaluation.
Oh RC, Hustead TR, Ali SM, Pantsari MW
Am Fam Physician 2017 Dec 1;96(11):709-715. PMID: 29431403
Genetics of Insulin Resistance and the Metabolic Syndrome.
Brown AE, Walker M
Curr Cardiol Rep 2016 Aug;18(8):75. doi: 10.1007/s11886-016-0755-4. PMID: 27312935Free PMC Article

Recent systematic reviews

Triglyceride-glucose index and coronary artery disease: a systematic review and meta-analysis of risk, severity, and prognosis.
Liang S, Wang C, Zhang J, Liu Z, Bai Y, Chen Z, Huang H, He Y
Cardiovasc Diabetol 2023 Jul 6;22(1):170. doi: 10.1186/s12933-023-01906-4. PMID: 37415168Free PMC Article
IPNA clinical practice recommendations for the diagnosis and management of children with steroid-sensitive nephrotic syndrome.
Trautmann A, Boyer O, Hodson E, Bagga A, Gipson DS, Samuel S, Wetzels J, Alhasan K, Banerjee S, Bhimma R, Bonilla-Felix M, Cano F, Christian M, Hahn D, Kang HG, Nakanishi K, Safouh H, Trachtman H, Xu H, Cook W, Vivarelli M, Haffner D; International Pediatric Nephrology Association
Pediatr Nephrol 2023 Mar;38(3):877-919. Epub 2022 Oct 21 doi: 10.1007/s00467-022-05739-3. PMID: 36269406Free PMC Article
Cardiac Toxicity Associated with Immune Checkpoint Inhibitors: A Systematic Review.
Cozma A, Sporis ND, Lazar AL, Buruiana A, Ganea AM, Malinescu TV, Berechet BM, Fodor A, Sitar-Taut AV, Vlad VC, Negrean V, Orasan OH
Int J Mol Sci 2022 Sep 19;23(18) doi: 10.3390/ijms231810948. PMID: 36142866Free PMC Article
Hyperammonemia syndrome post-lung transplantation: Case series and systematic review of literature.
Buzo BF, Preiksaitis JK, Halloran K, Nagendran J, Townsend DR, Zelyas N, Sligl WI
Transpl Infect Dis 2022 Dec;24(6):e13940. Epub 2022 Sep 6 doi: 10.1111/tid.13940. PMID: 36039822
Recent advances in congenital ichthyoses.
Hernández-Martín A, González-Sarmiento R
Curr Opin Pediatr 2015 Aug;27(4):473-9. doi: 10.1097/MOP.0000000000000239. PMID: 26164154

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