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Parathyroid Hormone Resistance

MedGen UID:
1388980
•Concept ID:
C4321236
•
Finding
Synonym: Pseudoparathyroidism

Definition

A finding indicating decreased tissue sensitivity to parathyroid hormone. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVParathyroid Hormone Resistance

Professional guidelines

PubMed

Genotype-phenotype correlations in pseudohypoparathyroidism type 1a patients: a systemic review.
Jiang S, Yang Y, Song A, Jiang Y, Jiang Y, Li M, Xia W, Nie M, Wang O, Xing X
Eur J Endocrinol 2023 Nov 8;189(5):S103-S111. doi: 10.1093/ejendo/lvad142. PMID: 37837607

Recent clinical studies

Etiology

Genotype-phenotype correlations in pseudohypoparathyroidism type 1a patients: a systemic review.
Jiang S, Yang Y, Song A, Jiang Y, Jiang Y, Li M, Xia W, Nie M, Wang O, Xing X
Eur J Endocrinol 2023 Nov 8;189(5):S103-S111. doi: 10.1093/ejendo/lvad142. PMID: 37837607
Lack of GNAS Remethylation During Oogenesis May Be a Cause of Sporadic Pseudohypoparathyroidism Type Ib.
Milioto A, Reyes M, Hanna P, Kiuchi Z, Turan S, Zeve D, Agarwal C, Grigelioniene G, Chen A, Mericq V, Frangos M, Ten S, Mantovani G, Salusky IB, Tebben P, Jüppner H
J Clin Endocrinol Metab 2022 Mar 24;107(4):e1610-e1619. doi: 10.1210/clinem/dgab830. PMID: 34791361Free PMC Article
Acrophobia in a Young Girl with Parathyroid Hormone Resistance (Pseudohypoparathyroidism).
Gilani M, Memon AA, Asif N, Basharat N
J Coll Physicians Surg Pak 2018 Sep;28(9):S166-S168. doi: 10.29271/jcpsp.2018.09.S166. PMID: 30173686
Significance of elevated parathyroid hormone after parathyroidectomy.
Biskobing DM
Endocr Pract 2010 Jan-Feb;16(1):112-7. doi: 10.4158/EP09122.RA. PMID: 19789155
Magnesium deficit in major burns: role in hypoparathyroidism and end-organ parathyroid hormone resistance.
Klein GL, Herndon DN
Magnes Res 1998 Jun;11(2):103-9. PMID: 9675754

Diagnosis

Genotype-phenotype correlations in pseudohypoparathyroidism type 1a patients: a systemic review.
Jiang S, Yang Y, Song A, Jiang Y, Jiang Y, Li M, Xia W, Nie M, Wang O, Xing X
Eur J Endocrinol 2023 Nov 8;189(5):S103-S111. doi: 10.1093/ejendo/lvad142. PMID: 37837607
Spectrum of Disorders associated with Tetany.
Santra G
J Assoc Physicians India 2023 Mar;71(3):11-12. doi: 10.5005/japi-11001-0203. PMID: 37354510
Genome-wide DNA methylation analysis of pseudohypoparathyroidism patients with GNAS imprinting defects.
Rochtus A, Martin-Trujillo A, Izzi B, Elli F, Garin I, Linglart A, Mantovani G, Perez de Nanclares G, Thiele S, Decallonne B, Van Geet C, Monk D, Freson K
Clin Epigenetics 2016;8:10. Epub 2016 Jan 26 doi: 10.1186/s13148-016-0175-8. PMID: 26819647Free PMC Article
GNAS mutations in Pseudohypoparathyroidism type 1a and related disorders.
Lemos MC, Thakker RV
Hum Mutat 2015 Jan;36(1):11-9. Epub 2014 Nov 28 doi: 10.1002/humu.22696. PMID: 25219572Free PMC Article
Methylation-specific multiplex-ligation-dependent probe amplification as a rapid molecular diagnostic tool for pseudohypoparathyroidism type 1b.
Alsum Z, Abu Safieh L, Nygren AO, Al-Hamed MA, Alkuraya FS
Genet Test Mol Biomarkers 2010 Feb;14(1):135-9. doi: 10.1089/gtmb.2009.0092. PMID: 19916794

Therapy

Spectrum of Disorders associated with Tetany.
Santra G
J Assoc Physicians India 2023 Mar;71(3):11-12. doi: 10.5005/japi-11001-0203. PMID: 37354510
Parathyroid hormone resistance from severe hypomagnesaemia caused by cisplatin.
Puchalski AR, Hodge MB
Endokrynol Pol 2020;71(6):577-578. Epub 2020 Sep 18 doi: 10.5603/EP.a2020.0061. PMID: 32944928
Parathyroid Hormone Resistance and Bilateral Macronodular Adrenocortical Disease: Does Partial Loss of Methylation at the GNAS Exon 1 Differentially Methylated Region (DMR) Play a Role?
Koch CA
Horm Metab Res 2017 Jul;49(7):558-560. Epub 2017 Apr 10 doi: 10.1055/s-0043-104385. PMID: 28395381
Disorders of calcium homeostasis.
Carmeliet G, Van Cromphaut S, Daci E, Maes C, Bouillon R
Best Pract Res Clin Endocrinol Metab 2003 Dec;17(4):529-46. doi: 10.1016/j.beem.2003.08.001. PMID: 14687587
Parathyroid hormone resistance in renal allograft recipients.
Kleerekoper M, Bernstein RS, Cruz C, Levin NW, Parfitt AM
Adv Exp Med Biol 1982;151:185-7. doi: 10.1007/978-1-4684-4259-5_24. PMID: 6295090

Prognosis

Molecular diagnosis and clinical characterization of pseudohypoparathyroidism type-Ib in a patient with mild Albright's hereditary osteodystrophy-like features, epileptic seizures, and defective renal handling of uric acid.
Unluturk U, Harmanci A, Babaoglu M, Yasar U, Varli K, Bastepe M, Bayraktar M
Am J Med Sci 2008 Jul;336(1):84-90. doi: 10.1097/MAJ.0b013e31815b218f. PMID: 18626245
Gs(alpha) mutations and imprinting defects in human disease.
Weinstein LS, Chen M, Liu J
Ann N Y Acad Sci 2002 Jun;968:173-97. doi: 10.1111/j.1749-6632.2002.tb04335.x. PMID: 12119276
Positional dissociation between the genetic mutation responsible for pseudohypoparathyroidism type Ib and the associated methylation defect at exon A/B: evidence for a long-range regulatory element within the imprinted GNAS1 locus.
Bastepe M, Pincus JE, Sugimoto T, Tojo K, Kanatani M, Azuma Y, Kruse K, Rosenbloom AL, Koshiyama H, Jüppner H
Hum Mol Genet 2001 Jun 1;10(12):1231-41. doi: 10.1093/hmg/10.12.1231. PMID: 11406605

Clinical prediction guides

Clinical and genetic characteristics of Pseudohypoparathyroidism in the Chinese population.
Chu X, Zhu Y, Wang O, Nie M, Quan T, Xue Y, Wang W, Jiang Y, Li M, Xia W, Xing X
Clin Endocrinol (Oxf) 2018 Feb;88(2):285-294. Epub 2017 Dec 14 doi: 10.1111/cen.13516. PMID: 29136292
Coexistence of two different pseudohypoparathyroidism subtypes (Ia and Ib) in the same kindred with independent Gs{alpha} coding mutations and GNAS imprinting defects.
Lecumberri B, Fernández-Rebollo E, Sentchordi L, Saavedra P, Bernal-Chico A, Pallardo LF, Bustos JM, Castaño L, de Santiago M, Hiort O, Pérez de Nanclares G, Bastepe M
J Med Genet 2010 Apr;47(4):276-80. Epub 2009 Oct 26 doi: 10.1136/jmg.2009.071001. PMID: 19858129Free PMC Article
A maternal epimutation of GNAS leads to Albright osteodystrophy and parathyroid hormone resistance.
Mariot V, Maupetit-Méhouas S, Sinding C, Kottler ML, Linglart A
J Clin Endocrinol Metab 2008 Mar;93(3):661-5. Epub 2008 Jan 8 doi: 10.1210/jc.2007-0927. PMID: 18182455
Gs(alpha) mutations and imprinting defects in human disease.
Weinstein LS, Chen M, Liu J
Ann N Y Acad Sci 2002 Jun;968:173-97. doi: 10.1111/j.1749-6632.2002.tb04335.x. PMID: 12119276
Magnesium deficit in major burns: role in hypoparathyroidism and end-organ parathyroid hormone resistance.
Klein GL, Herndon DN
Magnes Res 1998 Jun;11(2):103-9. PMID: 9675754

Recent systematic reviews

Genotype-phenotype correlations in pseudohypoparathyroidism type 1a patients: a systemic review.
Jiang S, Yang Y, Song A, Jiang Y, Jiang Y, Li M, Xia W, Nie M, Wang O, Xing X
Eur J Endocrinol 2023 Nov 8;189(5):S103-S111. doi: 10.1093/ejendo/lvad142. PMID: 37837607

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