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Pseudohypoparathyroidism type 1A
Other Names for this Disease
- Albright hereditary osteodystrophy with multiple hormone resistance
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Pseudohypoparathyroidism type 1A 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. Type 1A is caused by a mutation in the GNAS gene and is inherited in an autosomal dominant manner. This defect also causes short stature, a round face, and short hand bones, which is referred to as Albright's hereditary osteodystrophy.
- Topiwala S. Pseudohypoparathyroidism. MedlinePlus. http://www.nlm.nih.gov/medlineplus/ency/article/000364.htm. Accessed October 17, 2012.
- Pseudohypoparathyroidism type 1A. Online Mendelian Inheritance of Man (OMIM). http://omim.org/entry/103580. Accessed October 7, 2011.
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- The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Pseudohypoparathyroidism type 1A. Click on the link to go to OMIM and review these resources.
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.