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Pseudohypoparathyroidism type 1B
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Overview
Pseudohypoparathyroidism type 1B 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. Type 1B involves resistance to PTH only in the kidneys. Affected individuals usually do not have an abnormal physical appearance and usually do not exhibit other endocrine abnormalities. This condition is inherited in an autosomal dominant pattern and is caused by a mutation in either the GNAS gene or STX16 gene.[1][2]
References
- Topiwala S. Pseudohypoparathyroidism. MedlinePlus. http://www.nlm.nih.gov/medlineplus/ency/article/000364.htm. Accessed October 17, 2012.
- Pseudohypoparathyroidism type 1B . Online Mendelian Inheritance of Man (OMIM). http://omim.org/entry/603233. Accessed October 7, 2011.
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- PubMed is a searchable database of medical literature and lists journal articles that discuss Pseudohypoparathyroidism type 1B. Click on the link to view a sample search on this topic.
- The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Pseudohypoparathyroidism type 1B. Click on the link to go to OMIM and review these resources.