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Primary Hypoparathyroidism

MedGen UID:
821224
•Concept ID:
C3828476
•
Disease or Syndrome

Definition

Abnormally low levels of parathyroid hormone due to a disorder originating within the parathyroid glands. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPrimary Hypoparathyroidism

Professional guidelines

PubMed

American Association of Clinical Endocrinology Disease State Clinical Review: Evaluation and Management of Immune Checkpoint Inhibitor-Mediated Endocrinopathies: A Practical Case-Based Clinical Approach.
Yuen KCJ, Samson SL, Bancos I, Gosmanov AR, Jasim S, Fecher LA, Weber JS
Endocr Pract 2022 Jul;28(7):719-731. Epub 2022 Apr 25 doi: 10.1016/j.eprac.2022.04.010. PMID: 35477029
The Management of Permanent Primary Hypoparathyroidism in Children and Adolescents: A Complex Task.
De Sanctis V, Soliman AT, Di Maio S, Kattamis C
Pediatr Endocrinol Rev 2018 Sep;16(1):194-202. doi: 10.17458/per.vol16.2018.stsm.hypoparathyroidism. PMID: 30371038
Parathyroid function and bone metabolism in children with beta thalassaemia major: effects of sex steroid treatment.
Alagna S, Masala A, Gallisai D, Ginanni A, Burrai C, Pinna A, Rassu S, Rovasio P, Devilla L
Eur J Med 1992 Jun;1(3):153-7. PMID: 1341435

Recent clinical studies

Etiology

Is there a need for an emergency card in hypoparathyroidism?
Astor MC, Zhu W, Björnsdottir S, Bollerslev J, Kämpe O, Husebye ES
J Intern Med 2019 Apr;285(4):429-435. Epub 2018 Dec 12 doi: 10.1111/joim.12865. PMID: 30485554
A rare potentially treatable cause of bilateral optic disc swelling.
Abu-Ain M, Aazem S, Morton C, Kumwenda M, Griffiths D, Jacob A
BMJ Case Rep 2010 Oct 13;2010 doi: 10.1136/bcr.03.2010.2835. PMID: 22789833Free PMC Article
A rare cause of heart failure--primary hypoparathyroidism.
Gupta RP, Krishnan RA, Kumar S, Beniwal S, Devaraja R, Kochar SK
J Assoc Physicians India 2007 Jul;55:522-4. PMID: 17907506
Primary hypomagnesemia caused by isolated magnesium malabsorption: atypical case in adult.
Jin-no Y, Kamiya Y, Okada M, Hirako M, Takada N, Kawaguchi M
Intern Med 1999 Mar;38(3):261-5. doi: 10.2169/internalmedicine.38.261. PMID: 10337938
Adjusted ionized calcium (at pH 7.4) and actual ionized calcium (at actual pH) in capillary blood compared for clinical evaluation of patients with disorders of calcium metabolism.
Thode J, Holmegaard SN, Transbøl I, Fogh-Andersen N, Siggaard-Andersen O
Clin Chem 1990 Mar;36(3):541-4. PMID: 2311230

Diagnosis

Primary hypoparathyroidism: hypocalcaemia misdiagnosed as epilepsy.
Khor ZX, Pua QY, Tai YT
BMJ Case Rep 2023 Oct 4;16(10) doi: 10.1136/bcr-2023-257005. PMID: 37793845Free PMC Article
Expanding the clinical and immunological phenotypes of PAX1-deficient SCID and CID patients.
Yakici N, Kreins AY, Catak MC, Babayeva R, Erman B, Kenney H, Gungor HE, Cea PA, Kawai T, Bosticardo M, Delmonte OM, Adams S, Fan YT, Pala F, Turkyilmaz A, Howley E, Worth A, Kot H, Sefer AP, Kara A, Bulutoglu A, Bilgic-Eltan S, Altunbas MY, Bayram Catak F, Karakus IS, Karatay E, Tekeoglu SD, Eser M, Albayrak D, Citli S, Kiykim A, Karakoc-Aydiner E, Ozen A, Ghosh S, Gohlke H, Orhan F, Notarangelo LD, Davies EG, Baris S
Clin Immunol 2023 Oct;255:109757. Epub 2023 Sep 9 doi: 10.1016/j.clim.2023.109757. PMID: 37689091Free PMC Article
Optic neuritis as presenting primary hypoparathyroidism.
Arshad MF, Karim R, Paling D, Jayamanne G
BMJ Case Rep 2018 Nov 28;11(1) doi: 10.1136/bcr-2018-227032. PMID: 30567123Free PMC Article
Polyglandular autoimmune syndromes.
Leshin M
Am J Med Sci 1985 Aug;290(2):77-88. doi: 10.1097/00000441-198508000-00007. PMID: 3898841
PRIMARY HYPOPARATHYROIDISM.
MCGILL DA
Proc R Soc Med 1964 Dec;57(12):1125. PMID: 14244887Free PMC Article

Therapy

Dilated cardiomyopathy due to hypocalcaemia: a case report.
Rupasinghe N, Ranasinghe P, Wanninayake L
J Med Case Rep 2024 Apr 11;18(1):204. doi: 10.1186/s13256-024-04505-3. PMID: 38600559Free PMC Article
Optic neuritis as presenting primary hypoparathyroidism.
Arshad MF, Karim R, Paling D, Jayamanne G
BMJ Case Rep 2018 Nov 28;11(1) doi: 10.1136/bcr-2018-227032. PMID: 30567123Free PMC Article
Autoimmune-Related Primary Hypoparathyroidism Possibly Induced by the Administration of Pembrolizumab: A Case Report.
Umeguchi H, Takenoshita H, Inoue H, Kurihara Y, Sakaguchi C, Yano S, Hasuzawa N, Sakamoto S, Sakamoto R, Ashida K
J Oncol Pract 2018 Jul;14(7):449-451. Epub 2018 Jun 15 doi: 10.1200/JOP.18.00076. PMID: 29906213
Sarcoidosis presenting with severe hypocalcaemia.
Saeed A, Khan M, Irwin S, Fraser A
Ir J Med Sci 2011 Jun;180(2):575-7. Epub 2009 Jan 31 doi: 10.1007/s11845-009-0277-9. PMID: 19184607
Hypercalcemia and idiopathic hypoparathyroidism.
Schroth M, Dötsch J, Dörr HG
J Clin Pharm Ther 2001 Dec;26(6):453-5. doi: 10.1046/j.1365-2710.2001.00376.x. PMID: 11722683

Prognosis

Hypocalcemic cardiomyopathy as initial presentation of primary hypoparathyroidism.
Velayuthan S, Gungor N, McVie R
Pediatr Int 2014 Aug;56(4):e23-5. doi: 10.1111/ped.12378. PMID: 25252065
A rare potentially treatable cause of bilateral optic disc swelling.
Abu-Ain M, Aazem S, Morton C, Kumwenda M, Griffiths D, Jacob A
BMJ Case Rep 2010 Oct 13;2010 doi: 10.1136/bcr.03.2010.2835. PMID: 22789833Free PMC Article
Primary hypoparathyroidism in two horses.
Hudson NP, Church DB, Trevena J, Nielsen IL, Major D, Hodgson DR
Aust Vet J 1999 Aug;77(8):504-8. doi: 10.1111/j.1751-0813.1999.tb12119.x. PMID: 10494394
Primary hypomagnesemia caused by isolated magnesium malabsorption: atypical case in adult.
Jin-no Y, Kamiya Y, Okada M, Hirako M, Takada N, Kawaguchi M
Intern Med 1999 Mar;38(3):261-5. doi: 10.2169/internalmedicine.38.261. PMID: 10337938
Hypoparathyroidism and liver disease--evidence for a vitamin D hydroxylation defect. A case report.
Gustafsson J, Holmberg I, Hardell LI, Foucard T
Acta Endocrinol (Copenh) 1984 Feb;105(2):211-4. doi: 10.1530/acta.0.1050211. PMID: 6546465

Clinical prediction guides

Diverse genetic aetiologies and clinical outcomes of paediatric hypoparathyroidism.
Kim JH, Shin YL, Yang S, Cheon CK, Cho JH, Lee BH, Kim GH, Lee JO, Seo EJ, Choi JH, Yoo HW
Clin Endocrinol (Oxf) 2015 Dec;83(6):790-6. Epub 2015 Oct 19 doi: 10.1111/cen.12944. PMID: 26384470
A rare cause of heart failure in iron-overload thalassaemic patients-primary hypoparathyroidism.
De Sanctis V, Borsari G, Brachi S, Gubellini E, Gamberini MR, Carandina G
Georgian Med News 2008 Mar;(156):111-3. PMID: 18403823
Parathyroid function and bone metabolism in children with beta thalassaemia major: effects of sex steroid treatment.
Alagna S, Masala A, Gallisai D, Ginanni A, Burrai C, Pinna A, Rassu S, Rovasio P, Devilla L
Eur J Med 1992 Jun;1(3):153-7. PMID: 1341435
Adjusted ionized calcium (at pH 7.4) and actual ionized calcium (at actual pH) in capillary blood compared for clinical evaluation of patients with disorders of calcium metabolism.
Thode J, Holmegaard SN, Transbøl I, Fogh-Andersen N, Siggaard-Andersen O
Clin Chem 1990 Mar;36(3):541-4. PMID: 2311230
1,25-dihydroxy-vitamin D3: a new treatment for hypoparathyroidism.
Glatthaar C, Smith R, Espiner EA, Donald RA, Hinton D
N Z Med J 1980 Oct 8;92(669):267-71. PMID: 6934421

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