Pseudohypoparathyroidism

Información en español Title

Categories:

Endocrine Diseases

Subtypes:

Pseudohypoparathyroidism type 1A; Pseudohypoparathyroidism type 1B; Pseudohypoparathyroidism type 1C; Pseudohypoparathyroidism type 1A; Pseudohypoparathyroidism type 1B; Pseudohypoparathyroidism type 1C; Pseudohypoparathyroidism type 2 See More

Summary Summary

Pseudohypoparathyroidism (PTH) is a genetic disorder in which the body is unable to respond to parathyroid hormone. Parathyroid hormone helps control calcium, phosphorous, and vitamin D levels in the bones and blood.^[1]

The symptoms of PTH are caused by low calcium levels and high phosphate levels in the blood. This may cause cataracts (clouding of the lens of the eye), dental problems, numbness, seizures, or tetany (muscle twitches and hand and foot spasms). Symptoms may also include short stature, obesity, short fingers and toes, and intellectual disability. These symptoms are usually first seen in childhood.^[1]

Diagnosis is based on the symptoms, clinical examination, laboratory tests, and may be confirmed by the results of genetic testing. Treatment is focused on managing the symptoms. Diagnosis and treatment guidelines have been published.^[2]

There are two different types of pseudohypoparathyroidism, both of which are caused by variants in certain genes. Type 1 can be further divided into three sub-types.^[1] 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

Last updated: 1/5/2016

Cause Cause

Pseudohypoparathyroidism is caused by changes (mutations) in a number of different genes including the GNAS1 gene. When this gene is not working correctly, the body is not able to properly respond to parathyroid hormone, which increases the level of phosphorous in the blood and decreases the level of calcium. A mutation in this gene is most often inherited from the affected person’s mother, although it can sometimes be inherited from the father.^[3]

Last updated: 12/23/2016

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Diagnosis Diagnosis

Pseudohypoparathyroidism can be diagnosed by blood or urine tests to measure the levels of calcium, phosphorous, and parathyroid hormone. If the levels of parathyroid hormone and phosphorous are high and if the levels of calcium or low, this indicates the possibility of pseudohypoparathyroidism. A doctor may wish to confirm the diagnosis through genetic testing for a mutation in the GNAS1 gene. Diagnostic guidelines have been published.^[4]^[2]

Last updated: 12/23/2016

Treatment Treatment

The goal of treatment for pseudohypoparathyroidism (PTH) is to return the levels of calcium and phosphorous to normal. This can be done by taking calcium supplements to increase the level of calcium in the body. Vitamin D supplements also indirectly work to increase calcium levels in the body because vitamin D improves the absorption of calcium.^[4] The doctors may also recommend a low-phosphate diet or specific medications that bind to phosphate in the blood and reduce the effects.

Because people affected with certain types of pseudohypoparathyroidism may be shorter than other people, growth hormone may also be a treatment that allows these individuals to grow taller than they otherwise would.^[5] Treatment guidelines for PTH have been published.^[2]

Last updated: 12/23/2016

Research Research

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

ClinicalTrials.gov lists trials that are related to Pseudohypoparathyroidism. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Organizations Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Hormone Health Network
Toll-free: 1-800-HORMONE (1-800-467-6663)
E-mail: hormone@endocrine.org
Website: https://www.hormone.org
Hypopara UK
6 The Meads
East Grinstead
West Sussex, RH19 4DF United Kingdom
Telephone: 01342 316315
E-mail: lizglenister@hypopara.org.uk
Website: http://hypopara.org.uk/home.php
HypoPARAthyroidism Association, Inc. (HPTH )
695 Montecito Ct
Lemoore, CA 93245
Telephone: +1-559-817-7170
E-mail: dmurphy@hypopara.org
Website: https://hypopara.org/

Do you know of an organization? We want to hear from you.

Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
The Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
PubMed is a searchable database of medical literature and lists journal articles that discuss Pseudohypoparathyroidism. Click on the link to view a sample search on this topic.

Selected Full-Text Journal Articles

Mantovani G et al., Pseudohypoparathyroidism and GNAS epigenetic defects: clinical evaluation of albright hereditary osteodystrophy and molecular analysis in 40 patients. J Clin Endocrinol Metab. 2010 Feb;95(2):651-8. Epub 2010 Jan 8.
Maeda SS, Fortes EM, Oliveira UM, Borba VC, Lazaretti-Castro M. Hypoparathyroidism and pseudohypoparathyroidism. Arq Bras Endocrinol Metabol. 2006 Aug;50(4):664-73. Review.
Donghi V et al., Pseudohypoparathyroidism, an often delayed diagnosis: a case series. Cases J. 2009; 2: 6734.

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References References

Topiwala S. Pseudohypoparathyroidism. MedlinePlus. July 2012; http://www.nlm.nih.gov/medlineplus/ency/article/000364.htm. Accessed 10/17/2012.
Mantovani G, Bastpe M, Monk D, de Sanctis L, Thiele S, Ahmed SF, et al. Recommendations for Diagnosis and Treatment of Pseudohypoparathyroidism and Related Disorders: An Updated Practical Tool for Physicians and Patients.. Horm Res Paediatr. Epub 2020 Aug 5; 93(3):182-196. https://pubmed.ncbi.nlm.nih.gov/32756064/.
Garin I, Mantovani G, Aguirre U, Barlier A, Brix B, Elli FM, Freson K, Grybek V, Izzi B, Linglart A, Perez de Nanclares G, Silve C, Thiele S, and Werner R. European guidance for the molecular diagnosis of pseudohypoparathyroidism not caused by point genetic variants at GNAS: an EQA study. European Journal of Human Genetics. April 2015; 23(4):438-444. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4666570/.
Abraham MR and Khardori R. Pseudohypoparathyroidism. Medscape; December 11, 2015; http://emedicine.medscape.com/article/124836-overview.
Germain-Lee EL. Short stature, obesity, and growth hormone deficiency in pseudohypoparathyroidism type 1a. Pediatric Endocrinology Reviews. April 2006; 3:318-327. https://www.ncbi.nlm.nih.gov/pubmed/16675931.