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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How do you compare to others with this condition?

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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 114 free, full-text research articles on human participants. First 3 results:

Reduced insulin sensitivity in adults with pseudohypoparathyroidism type 1a.
 

Author(s): Ranganath Muniyappa, Mary A Warren, Xiongce Zhao, Sara C Aney, Amber B Courville, Kong Y Chen, Robert J Brychta, Emily L Germain-Lee, Lee S Weinstein, Monica C Skarulis

Journal: J. Clin. Endocrinol. Metab.. 2013 Nov;98(11):E1796-801.

 

Disruption of the Gsα maternal allele leads to severe obesity and insulin resistance in mice and early-onset obesity in patients with pseudohypoparathyroidism (PHP) type 1a. However, insulin resistance and glucose metabolism have not been systematically characterized in patients with PHP1a.

Last Updated: 6 Nov 2013

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[Clinical features of two cases of pseudohypoparathyroidism (ia and ib) and molecular analysis of GNAS].
 

Author(s): A Domínguez García, L A Castaño González, G Pérez-Nanclares, S Quinteiro González, E Caballero Fernández

Journal: An Pediatr (Barc). 2013 Nov;79(5):319-24.

 

Pseudohypoparathyroidism (PHP) is a rare disorder, characterized by a tissue resistance to parathyroid hormone (PTH). The two main subtypes of PHP, PHPIa and PHPIb, are caused by alterations in the GNAS locus (20q13.3), which encodes the Gsα protein, essential for the action of PTH ...

Last Updated: 28 Oct 2013

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Energy expenditure in obese children with pseudohypoparathyroidism type 1a.
 

Author(s): A H Shoemaker, J P Lomenick, B R Saville, W Wang, M S Buchowski, R D Cone

Journal: Int J Obes (Lond). 2013 Aug;37(8):1147-53.

 

Patients with pseudohypoparathyroidism type 1a (PHP-1a) develop early-onset obesity. The abnormality in energy expenditure and/or energy intake responsible for this weight gain is unknown.

Last Updated: 6 Aug 2013

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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 4 free, full-text review articles on human participants. First 3 results:

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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Hypoparathyroidism and pseudohypoparathyroidism.
 

Author(s): Sergio S Maeda, Erika M Fortes, Ulisses M Oliveira, Victoria C Z Borba, Marise Lazaretti-Castro

Journal: Arq Bras Endocrinol Metabol. 2006 Aug;50(4):664-73.

 

The principal function of the parathyroid hormone (PTH) is maintenance of calcium plasmatic levels, withdrawing the calcium from bone tissue, reabsorbing it from the glomerular filtrate, and indirectly increasing its intestinal absorption by stimulating active vitamin D (calcitriol) ...

Last Updated: 22 Nov 2006

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GNAS locus and pseudohypoparathyroidism.
 

Author(s): Murat Bastepe, Harald Jüppner

Journal: Horm. Res.. 2005 ;63(2):65-74.

 

Pseudohypoparathyroidism (PHP) is characterized by hypocalcemia and hyperphosphatemia due to resistance to parathyroid hormone (PTH). Patients with PHP-Ia often present with additional hormonal resistance and show characteristic physical features that are collectively termed Albright's ...

Last Updated: 8 Apr 2005

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

There are currently no related results available in Genetic Testing Registry.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Growth Hormone Use in Albright Hereditary Osteodystrophy
 

Status: Recruiting

Condition Summary: Pseudohypoparathyroidism Type 1a; Albright Hereditary Osteodystrophy

 

Last Updated: 1 Dec 2014

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Resistance to Vitamin D or Parathyroid Hormone
 

Status: Recruiting

Condition Summary: Hypocalcemia; Osteomalacia; Pseudohypoparathyroidism; Pseudo-Pseudohypoparathyroidism; Rickets

 

Last Updated: 11 Nov 2014

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