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Autoimmune hypoparathyroidism

MedGen UID:
488838
•Concept ID:
C0271865
•
Disease or Syndrome
Synonyms: autoimmune hypoparathyroidism; autoimmune hypoparathyroidism (disease)
SNOMED CT: Autoimmune hypoparathyroidism (75316000)
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
•Concept ID:
CN307044
•
Finding
Source: Orphanet
clinical entity without genetic inheritance.
See: This record
Not genetically inherited (Orphanet)
 
HPO: HP:0011771
Monarch Initiative: MONDO:0018242
Orphanet: ORPHA36913

Definition

A type of hypoparathyroidism with circulating antiparathyroid or anti-calcium sensing receptor antibodies indicative of autoimmunity. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Autoimmune hypoparathyroidism
Follow this link to review classifications for Autoimmune hypoparathyroidism in Orphanet.

Professional guidelines

PubMed

Improving management of severe hypoparathyroidism: a case series.
Ugalde-Abiega B, Lamas Oliveira C, Alfaro Martínez JJ, Meizoso-Pita O, Sevillano Collantes C, Gomez García I, Perez Rodríguez A, Huguet I
Hormones (Athens) 2022 Mar;21(1):71-77. Epub 2021 Oct 13 doi: 10.1007/s42000-021-00326-x. PMID: 34647284

Recent clinical studies

Etiology

Calcium-sensing receptor autoantibody-mediated hypoparathyroidism associated with immune checkpoint inhibitor therapy: diagnosis and long-term follow-up.
Dadu R, Rodgers TE, Trinh VA, Kemp EH, Cubb TD, Patel S, Simon JM, Burton EM, Tawbi H
J Immunother Cancer 2020 Jun;8(1) doi: 10.1136/jitc-2020-000687. PMID: 32581059Free PMC Article
Immune Checkpoint Inhibitor-Induced Hypoparathyroidism Associated With Calcium-Sensing Receptor-Activating Autoantibodies.
Piranavan P, Li Y, Brown E, Kemp EH, Trivedi N
J Clin Endocrinol Metab 2019 Feb 1;104(2):550-556. doi: 10.1210/jc.2018-01151. PMID: 30252069
Genetic dissection of autoimmune polyendocrine syndrome type 2: common origin of a spectrum of phenotypes.
Ballarini A, Lee-Kirsch MA
Ann N Y Acad Sci 2007 Sep;1110:159-65. doi: 10.1196/annals.1423.018. PMID: 17911431
Celiac disease occurring in a patient with hypoparathyroidism and autoimmune thyroid disease.
Khandwala HM, Chibbar R, Bedi A
South Med J 2006 Mar;99(3):290-2. doi: 10.1097/01.smj.0000202696.77919.d1. PMID: 16553106
Receptors, antibodies, and disease.
Blecher M
Clin Chem 1984 Jul;30(7):1137-56. PMID: 6329552

Diagnosis

Skeletal Manifestations of Autoimmune Hypoparathyroidism.
Slouma M, Miri S, Metoui L, Dhahri R, Gharsallah I, Louzir B
J Clin Rheumatol 2021 Aug 1;27(5):e168-e169. doi: 10.1097/RHU.0000000000001307. PMID: 31977660
Causes and pathophysiology of hypoparathyroidism.
Cianferotti L, Marcucci G, Brandi ML
Best Pract Res Clin Endocrinol Metab 2018 Dec;32(6):909-925. Epub 2018 Jul 29 doi: 10.1016/j.beem.2018.07.001. PMID: 30665552
Diagnosis and classification of autoimmune parathyroid disease.
Betterle C, Garelli S, Presotto F
Autoimmun Rev 2014 Apr-May;13(4-5):417-22. Epub 2014 Jan 11 doi: 10.1016/j.autrev.2014.01.044. PMID: 24424178
Graves' disease coexisting with probable autoimmune hypoparathyroidism.
Cakir M, Karayalcin U
Exp Clin Endocrinol Diabetes 2003 Sep;111(6):374-6. doi: 10.1055/s-2003-42730. PMID: 14520606
Dental manifestations of autoimmune hypoparathyroidism.
Walls AW, Soames JV
Oral Surg Oral Med Oral Pathol 1993 Apr;75(4):452-4. doi: 10.1016/0030-4220(93)90169-5. PMID: 8464608

Therapy

Improving management of severe hypoparathyroidism: a case series.
Ugalde-Abiega B, Lamas Oliveira C, Alfaro Martínez JJ, Meizoso-Pita O, Sevillano Collantes C, Gomez García I, Perez Rodríguez A, Huguet I
Hormones (Athens) 2022 Mar;21(1):71-77. Epub 2021 Oct 13 doi: 10.1007/s42000-021-00326-x. PMID: 34647284
Impaired Immune Function in Patients With Chronic Postsurgical Hypoparathyroidism: Results of the EMPATHY Study.
Puliani G, Hasenmajer V, Sciarra F, Barbagallo F, Sbardella E, Pofi R, Gianfrilli D, Romagnoli E, Venneri MA, Isidori AM
J Clin Endocrinol Metab 2021 Apr 23;106(5):e2215-e2227. doi: 10.1210/clinem/dgab038. PMID: 33484559
Immunosuppressive therapy of autoimmune hypoparathyroidism in a patient with activating autoantibodies against the calcium-sensing receptor.
Chamberlin M, Kemp EH, Weetman AP, Khadka B, Brown EM
Clin Endocrinol (Oxf) 2019 Jan;90(1):214-221. Epub 2018 Nov 14 doi: 10.1111/cen.13886. PMID: 30358904
Causes and pathophysiology of hypoparathyroidism.
Cianferotti L, Marcucci G, Brandi ML
Best Pract Res Clin Endocrinol Metab 2018 Dec;32(6):909-925. Epub 2018 Jul 29 doi: 10.1016/j.beem.2018.07.001. PMID: 30665552
Oral mucous squamous cell carcinoma-an anticipated consequence of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED).
Böckle BC, Wilhelm M, Müller H, Götsch C, Sepp NT
J Am Acad Dermatol 2010 May;62(5):864-8. Epub 2010 Mar 20 doi: 10.1016/j.jaad.2009.06.061. PMID: 20304522

Prognosis

Calcium-sensing receptor autoantibody-mediated hypoparathyroidism associated with immune checkpoint inhibitor therapy: diagnosis and long-term follow-up.
Dadu R, Rodgers TE, Trinh VA, Kemp EH, Cubb TD, Patel S, Simon JM, Burton EM, Tawbi H
J Immunother Cancer 2020 Jun;8(1) doi: 10.1136/jitc-2020-000687. PMID: 32581059Free PMC Article
Polyglandular autoimmune syndrome type I.
Proust-Lemoine E, Saugier-Veber P, Wémeau JL
Presse Med 2012 Dec;41(12 P 2):e651-62. Epub 2012 Nov 23 doi: 10.1016/j.lpm.2012.10.005. PMID: 23182677
Parathyroid cell surface autoantibodies that inhibit parathyroid hormone secretion from dispersed human parathyroid cells.
Posillico JT, Wortsman J, Srikanta S, Eisenbarth GS, Mallette LE, Brown EM
J Bone Miner Res 1986 Oct;1(5):475-83. doi: 10.1002/jbmr.5650010512. PMID: 3332555

Clinical prediction guides

Impaired Immune Function in Patients With Chronic Postsurgical Hypoparathyroidism: Results of the EMPATHY Study.
Puliani G, Hasenmajer V, Sciarra F, Barbagallo F, Sbardella E, Pofi R, Gianfrilli D, Romagnoli E, Venneri MA, Isidori AM
J Clin Endocrinol Metab 2021 Apr 23;106(5):e2215-e2227. doi: 10.1210/clinem/dgab038. PMID: 33484559
Oral mucous squamous cell carcinoma-an anticipated consequence of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED).
Böckle BC, Wilhelm M, Müller H, Götsch C, Sepp NT
J Am Acad Dermatol 2010 May;62(5):864-8. Epub 2010 Mar 20 doi: 10.1016/j.jaad.2009.06.061. PMID: 20304522
Activating antibodies to the calcium-sensing receptor in two patients with autoimmune hypoparathyroidism.
Kifor O, McElduff A, LeBoff MS, Moore FD Jr, Butters R, Gao P, Cantor TL, Kifor I, Brown EM
J Clin Endocrinol Metab 2004 Feb;89(2):548-56. doi: 10.1210/jc.2003-031054. PMID: 14764760
Rapid increase in bone mineral density in a child with osteoporosis and autoimmune hypoparathyroidism treated with PTH 1-34.
Koch CA
Exp Clin Endocrinol Diabetes 2001;109(6):350-4. doi: 10.1055/s-2001-17398. PMID: 11571675

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