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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
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
Alcohol abuse: potential role in electrolyte disturbances and kidney diseases.
Vamvakas S, Teschner M, Bahner U, Heidland A
Clin Nephrol 1998 Apr;49(4):205-13. PMID: 9582549

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
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
Screening for parathyroid hormone resistance in patients with nonphenotypically evident pseudohypoparathyroidism.
Todorova-Koteva K, Wood K, Imam S, Jaume JC
Endocr Pract 2012 Nov-Dec;18(6):864-9. doi: 10.4158/EP12007.OR. PMID: 22784837
Clinical and biological heterogeneity in pseudohypoparathyroidism syndrome. Results of a multicenter study.
Marguet C, Mallet E, Basuyau JP, Martin D, Leroy M, Brunelle P
Horm Res 1997;48(3):120-30. doi: 10.1159/000185501. PMID: 11546929

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
Screening for parathyroid hormone resistance in patients with nonphenotypically evident pseudohypoparathyroidism.
Todorova-Koteva K, Wood K, Imam S, Jaume JC
Endocr Pract 2012 Nov-Dec;18(6):864-9. doi: 10.4158/EP12007.OR. PMID: 22784837
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
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
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

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
New mechanisms involved in paternal 20q disomy associated with pseudohypoparathyroidism.
Fernández-Rebollo E, Lecumberri B, Garin I, Arroyo J, Bernal-Chico A, Goñi F, Orduña R; Spanish PHP Group, Castaño L, de Nanclares GP
Eur J Endocrinol 2010 Dec;163(6):953-62. Epub 2010 Sep 13 doi: 10.1530/EJE-10-0435. PMID: 20837711
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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