Pseudohypoparathyroidism

Overview

Journal Endocrinol Metab Clin North Am

Publisher Elsevier

Specialty Endocrinology

Date 2018 Nov 5

PMID 30390819

Citations 40

Authors

Agnes Linglart

Michael A Levine

Harald Juppner

Affiliations

Soon will be listed here.

Abstract

Pseudohypoparathyroidism (PHP) refers to a heterogeneous group of uncommon, yet related metabolic disorders that are characterized by impaired activation of the Gsα/cAMP/PKA signaling pathway by parathyroid hormone (PTH) and other hormones that interact with Gsa-coupled receptors. Proximal renal tubular resistance to PTH and thus hypocalcemia and hyperphosphatemia, frequently in presence of brachydactyly, ectopic ossification, early-onset obesity, or short stature are common features of PHP. Registries and large cohorts of patients are needed to conduct clinical and genetic research, to improve the still limited knowledge regarding the underlying disease mechanisms, and allow the development of novel therapies.

Citing Articles

Pseudohypoparathyroidism type 1A presenting as short stature and congenital hypothyroidism.

Kondetimmanahalli R, Lynch J, Francis G, Gardner H, Pillai R Endocrinol Diabetes Metab Case Rep. 2025; 2025(1).

PMID: 39868553 PMC: 11811821. DOI: 10.1530/EDM-24-0097.

Knockdown Induces Obesity and AHO Features in Early Zebrafish Larvae.

Abbas A, Hammad A, Zakaria Z, Al-Asmakh M, Hussain K, Al-Shafai M Int J Mol Sci. 2024; 25(23).

PMID: 39684386 PMC: 11641299. DOI: 10.3390/ijms252312674.

Recurrent small variants in NESP55/NESPAS associated with broad GNAS methylation defects and pseudohypoparathyroidism type 1B.

Li D, De Beur S, Hou C, Ruzhnikov M, Seeley H, Cutting G JCI Insight. 2024; 9(24).

PMID: 39541438 PMC: 11665564. DOI: 10.1172/jci.insight.185874.

Prevalence of hearing loss in pseudohypoparathyroidism.

Djian C, Berkenou J, Rothenbuhler A, Botton J, Linglart A, Nevoux J Orphanet J Rare Dis. 2024; 19(1):339.

PMID: 39267114 PMC: 11396291. DOI: 10.1186/s13023-024-03299-3.

Pseudohypoparathyroidism leading to bilateral hip fracture: A case report.

Ahmad R, Daim S, Ashraf M, Aziz N, Ashraf M Radiol Case Rep. 2024; 19(11):4775-4779.

PMID: 39228948 PMC: 11366917. DOI: 10.1016/j.radcr.2024.07.052.

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