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

A novel mutation in pseudohypoparathyroidism type 1a in a Chinese woman and her son with hypocalcaemia.
 

Author(s): Vicki H K Tam, Sammy P L Chen, Chole M Mak, L M Fung, C Y Lee, Albert Y W Chan

Journal: Hong Kong Med J. 2014 Jun;20(3):258-60.

 

Pseudohypoparathyroidism is a rare genetic disorder characterised by end-organ resistance to parathyroid hormone due to a defect of the guanine nucleotide-binding protein alpha that simulates activity of the polypeptide 1 (GNAS) gene. Patients with type 1a pseudohypoparathyroidism ...

Last Updated: 10 Jun 2014

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A 22-year-old woman with hypocalcemia and clinical features of albright hereditary osteodystrophy diagnosed with sporadic pseudohypoparathyroidism type Ib using a methylation-specific multiplex ligation-dependent probe amplification assay.
 

Author(s): Satoshi Zeniya, Akiko Yuno, Takayuki Watanabe, Takeshi Usui, Yurie Moriki, Yoshitaka Uno, Hirotomo Miake

Journal: Intern. Med.. 2014 ;53(9):979-86.

 

A 22-year-old woman presented to us with seizures of a few minutes duration. She had clinical features of Albright hereditary osteodystrophy (AHO), including hypocalcemia, hyperphosphatemia and resistance to parathyroid hormone. Genetic testing revealed a sporadic form of pseudohypoparathyroidism ...

Last Updated: 5 May 2014

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Pseudohypoparathyroidism type II in a woman with a history of thyroid surgery.
 

Author(s): Takaaki Murakami, Takuo Nambu, Yuki Morimoto, Yuki Matsuda, Koji Matsuo, Shin Yonemitsu, Seiji Muro, Shogo Oki

Journal: Intern. Med.. 2014 ;53(7):743-7.

 

We herein describe the case of a woman with pseudohypoparathyroidism (PHP) type II. She had a history of subtotal thyroidectomy against Graves' disease without levothyroxine supplementation and presented with stiffness, numbness and muscle cramps. Her surgical history suggested the ...

Last Updated: 3 Apr 2014

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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 J├╝ppner

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.

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Early-onset Obesity and Cognitive Impairment in Children With Pseudohypoparathyroidism
 

Status: Recruiting

Condition Summary: Pseudohypoparathyroidism; Albright Hereditary Osteodystrophy

 

Last Updated: 7 Apr 2015

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Theophylline as a Treatment for Children With Pseudohypoparathyroidism Type 1a (Albright Hereditary Osteodystrophy)
 

Status: Recruiting

Condition Summary: Pseudohypoparathyroidism Type 1a; Albright Hereditary Osteodystrophy

 

Last Updated: 2 Jun 2015

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Albright Hereditary Osteodystrophy: Growth Hormone Trial and Cognitive/Behavioral Assessments
 

Status: Recruiting

Condition Summary: Pseudohypoparathyroidism Type 1a; Albright Hereditary Osteodystrophy

 

Last Updated: 25 Jun 2015

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