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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.
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.
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.
Pseudohypoparathyroidism is a rare disorder that affects more than twice as many females than males.
Symptoms of the following disorders can be similar to those of Pseudohypoparathyroidism. Comparisons may be useful for a differential diagnosis:
Turner Syndrome is a genetic disorder affecting females which is characterized by lack of sexual development, small stature, possible mental retardation, a webbed neck, heart defects, and various other congenital abnormalities, often including the same deformities of the hands as in Pseudohypoparathyroidism. Individuals have an XO karyotype, i.e., they have neither the second X chromosome that characterizes females nor the Y chromosome of males. However, they are females. (For more information, choose "Turner" as your search term in the Rare Disease Database.)
Pseudohypoparathyroidism is treated with the vitamin compound 1,25- dihydroxyvitamin D, which promotes reabsorption of calcium in the kidneys.
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
For information about clinical trials sponsored by private sources, contact:
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
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.
Report last updated: 2007/07/23 00:00:00 GMT+0