Pseudohypoparathyroidism

Pseudohypoparathyroidism

National Organization for Rare Disorders, Inc.

Important

It is possible that the main title of the report Pseudohypoparathyroidism is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

  • Martin-Albright Syndrome

Disorder Subdivisions

  • None

General Discussion

Pseudohypoparathyroidism is a hereditary disorder characterized by an inadequate response to the parathyroid hormone, although the hormone is present in normal amounts. This inadequate response affects bone growth in individuals with Pseudohypoparathyroidism. Affected individuals may also experience headaches, unusual sensations, weakness, easy fatigue, lack of energy, blurred vision, and/or abnormal sensitivity (hypersensitivity) to light. Additional symptoms and findings may include stiffness or cramps in the arms and/or legs, palpitations, and/or abdominal pain. In addition, individuals with Pseudohypoparathyroidism may have an abnormally round face, thick short stature, unusually short fourth fingers, and mental retardation. Hormonal and calcium replacement therapy is often helpful, but the lack of growth may persist.

Symptoms

Pseudohypoparathyroidism is characterized by short stature, a round face, short neck, and shortened bones in the hands and feet. Intelligence usually ranges from low normal to mentally retarded. Headaches, weakness, tiring easily, lethargy, cataracts and blurred vision or hypersensitivity to light may also be present. During childhood, seizures may occur. Teeth with underdeveloped enamel tend to erupt later than normal during infancy. Levels of calcium in the blood are usually low, while phosphate and the parathyroid hormone are elevated. Patients with Pseudohypoparathyroidism can lead a normal life.

Causes

Pseudohypoparathyroidism is a hereditary disorder inherited either through X- linked dominant genes or through autosomal dominant genes.



Human traits including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother.



In X-linked dominant disorders, the female with only one X chromosome affected will develop the disease. However, the affected male always has a more severe condition. Sometimes, affected males die before birth so that only female patients survive.



In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the other normal gene and resulting in the appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50 percent for each pregnancy regardless of the sex of the resulting child.



A defect in the the guanine nucleotide-binding protein may be responsible for some forms of Pseudohypoparathyroidism.

Affected Populations

Pseudohypoparathyroidism is a rare disorder that affects more than twice as many females than males.

Standard Therapies

Pseudohypoparathyroidism is treated with the vitamin compound 1,25- dihydroxyvitamin D, which promotes reabsorption of calcium in the kidneys.

Investigational Therapies

Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site.



For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:



Tollfree: (800) 411-1222

TTY: (866) 411-1010

Email: prpl@cc.nih.gov



For information about clinical trials sponsored by private sources, contact:

www.centerwatch.com

References

TEXTBOOKS

The Metabolic Basis of Inerhited Disease, 5th Ed.: John B. Stanbury, et al., eds.; McGraw Hill, 1983. Pp. 1816-1817, 2569-80.



Internal Medicine, 2nd Ed.: Jay H. Stein, ed.-in-chief; Little, Brown and Co., 1987. Pp.810-817



JOURNAL ARTICLES

The Juxtaglomerular Apparatus in Bartter's Syndrome and Related Tubulopathies. An Immunocytochemical and Electron Microscopic Study. R. Raugner et al., Virchows Arch [A] (1988; 412(5)). Pp. 459-70.



Total Body Pottasium in Bartter's Syndrome Before and During Treatment with Enalapril. A. van de Stolpe et al., Nephron (1987; 45(2)). Pp. 122-25.



Renal Tubular Reabsorption of Chloride in Bartter's Syndrome and Other Conditions with Hypokalemia. J. A. Rodriguez-Portales et al., Clin Nephrol (Dec 1986; 26(6)). Pp. 269-72.



FROM THE INTERNET

Online Mendelian Inheritance in Man (OMIM). Victor A. McKusick, Editor; Johns Hopkins University, Last Edit Date 7/24/98, Entry Number 602023.

Resources

NIH/National Institute of Diabetes, Digestive & Kidney Diseases

Office of Communications & Public Liaison

Bldg 31, Rm 9A06

31 Center Drive, MSC 2560

Bethesda, MD 20892-2560

Tel: (301)496-3583

Email: NDDIC@info.niddk.nih.gov

Internet: http://www2.niddk.nih.gov/



Hormone Health Network

8401 Connecticut Avenue

Suite 900

Chevy Chase, MD 20815-5817

Fax: (310)941-0259

Tel: (800)467-6663

Email: hormone@endo-society.org

Internet: http://www.hormone.org/



Genetic and Rare Diseases (GARD) Information Center

PO Box 8126

Gaithersburg, MD 20898-8126

Tel: (301)251-4925

Fax: (301)251-4911

Tel: (888)205-2311

TDD: (888)205-3223

Internet: http://rarediseases.info.nih.gov/GARD/



For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc.® (NORD). Cigna members can access the complete report by logging into myCigna.com. For non-Cigna members, a copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html.

This information does not replace the advice of a doctor. Healthwise, Incorporated disclaims any warranty or liability for your use of this information. Your use of this information means that you agree to the Terms of Use . How this information was developed to help you make better health decisions.

Healthwise, Healthwise for every health decision, and the Healthwise logo are trademarks of Healthwise, Incorporated.