Pseudohypoparathyroidism

Common Name(s)

Pseudohypoparathyroidism

Pseudohypoparathyroidism is a genetic disorder that resembles hypoparathyroidism (lowered levels of parathyroid hormone), but is caused by a lack of response to parathyroid hormone rather than having too little of the hormone itself. This condition is very similar to hypoparathyroidism, with low calcium levels and high phosphate levels in the blood. This results in the characteristic symptoms which are generally first seen in childhood. There are two different types of pseudohypoparathyroidism, both of which are caused by abnormal genes. Type 1 can be further divided into three sub-types. Click on the links below for more information on the various types of pseudohypoparathyroidism.

Pseudohypoparathyroidism type 1A
Pseudohypoparathyroidism type 1B
Pseudohypoparathyroidism type 1C
Pseudohypoparathyroidism type 2
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Pseudohypoparathyroidism" for support, advocacy or research.

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Hypoparathyroidism UK

Working to improve the lives of people with hypoparathyroidism and other parathyroid conditions.

Last Updated: 1 Apr 2013

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Pseudohypoparathyroidism" for support, advocacy or research.

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Hypoparathyroidism UK

Working to improve the lives of people with hypoparathyroidism and other parathyroid conditions.

http://www.hpth.org.uk

Last Updated: 1 Apr 2013

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Pseudohypoparathyroidism" returned 159 free, full-text research articles on human participants. First 3 results:

Pseudohypoparathyroidism with basal ganglia calcification: A case report of rare cause of reversible parkinsonism.
 

Author(s): Cheng-Yuan Song, Zhen-Xiang Zhao, Wei Li, Cong-Cong Sun, Yi-Ming Liu

Journal: Medicine (Baltimore). 2017 Mar;96(11):e6312.

 

Parkinsonism can be secondary to many internal diseases, in some certain conditions, it seems that the clinical manifestations of parkinsonism presenting reversible. We report a case of patient with parkinsonism secondary to pseudohypoparathyroidism, who improved markedly after the ...

Last Updated: 15 Mar 2017

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A novel mutation in a case of pseudohypoparathyroidism type Ia.
 

Author(s): Birgül Kırel, Meliha Demiral, Özkan Bozdağ, Kadri Karaer

Journal: Turk. J. Pediatr.. 2016 ;58(1):101-105.

 

Pseudohypoparathyroidism (PHP) type Ia is characterized by multiple hormone resistance; primarily parathyroid hormone (PTH) resistance and Albright's hereditary osteodystrophy (AHO) which involves skeletal and developmental defects. The AHO phenotype alone without hormone resistance ...

Last Updated: 6 Dec 2016

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Hypoparathyroidism and pseudohypoparathyroidism: etiology, laboratory features and complications.
 

Author(s): Maicon Piana Lopes, Breno S Kliemann, Ileana Borsato Bini, Rodrigo Kulchetscki, Victor Borsani, Larissa Savi, Victoria Z C Borba, Carolina A Moreira

Journal: Arch Endocrinol Metab. ;60(6):532-536.

 

To identify a clinical profile and laboratory findings of a cohort of hypoparathyroidism patients and determine the prevalence and predictors for renal abnormalities.

Last Updated: 30 Nov 2016

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Pseudohypoparathyroidism" returned 7 free, full-text review articles on human participants. First 3 results:

From pseudohypoparathyroidism to inactivating PTH/PTHrP signalling disorder (iPPSD), a novel classification proposed by the EuroPHP network.
 

Author(s): Susanne Thiele, Giovanna Mantovani, Anne Barlier, Valentina Boldrin, Paolo Bordogna, Luisa De Sanctis, Francesca M Elli, Kathleen Freson, Intza Garin, Virginie Grybek, Patrick Hanna, Benedetta Izzi, Olaf Hiort, Beatriz Lecumberri, Arrate Pereda, Vrinda Saraff, Caroline Silve, Serap Turan, Alessia Usardi, Ralf Werner, Guiomar Perez de Nanclares, Agnès Linglart

Journal: Eur. J. Endocrinol.. 2016 Dec;175(6):P1-P17.

 

Disorders caused by impairments in the parathyroid hormone (PTH) signalling pathway are historically classified under the term pseudohypoparathyroidism (PHP), which encompasses rare, related and highly heterogeneous diseases with demonstrated (epi)genetic causes. The actual classification ...

Last Updated: 12 Jul 2016

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GNAS mutations in Pseudohypoparathyroidism type 1a and related disorders.
 

Author(s): Manuel C Lemos, Rajesh V Thakker

Journal: Hum. Mutat.. 2015 Jan;36(1):11-9.

 

Pseudohypoparathyroidism type 1a (PHP1a) is characterized by hypocalcaemia and hyperphosphatemia due to parathyroid hormone resistance, in association with the features of Albright's hereditary osteodystrophy (AHO). PHP1a is caused by maternally inherited inactivating mutations of ...

Last Updated: 5 Jan 2015

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An update on the clinical and molecular characteristics of pseudohypoparathyroidism.
 

Author(s): Michael A Levine

Journal: Curr Opin Endocrinol Diabetes Obes. 2012 Dec;19(6):443-51.

 

To provide the reader with a review of contemporary literature describing the evolving understanding of the molecular pathobiology of pseudohypoparathyroidism (PHP).

Last Updated: 6 Nov 2012

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Theophylline Treatment for Pseudohypoparathyroidism
 

Status: Not yet recruiting

Condition Summary: Pseudohypoparathyroidism; Albright Hereditary Osteodystrophy

 

Last Updated: 23 Jan 2017

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Albright Hereditary Osteodystrophy: Natural History, Growth, and Cognitive/Behavioral Assessments
 

Status: Recruiting

Condition Summary: Pseudohypoparathyroidism Type 1A; Albright Hereditary Osteodystrophy

 

Last Updated: 14 Aug 2017

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Characterization of Patients With Non-surgical Hypoparathyroidism and Pseudohypoparathyroidism
 

Status: Recruiting

Condition Summary: Idiopathic Hypoparathyroidism; Autosomal Dominant Hypocalcaemia; Pseudohypoparathyroidism

 

Last Updated: 26 May 2016

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