| Albright's hereditary osteodystrophy | |
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| Albright's hereditary osteodystrophy has an autosomal dominant pattern of inheritance | |
| Specialty | Endocrinology  |
| Symptoms | Choroid plexus calcification, Full cheeks[1] |
| Causes | Gs alpha subunit deficiency[2] |
| Diagnostic method | calcium, phosphorus, PTH, Urine test for phosphorus and cyclic AMP |
| Treatment | Phosphate binders, supplementary calcium [3] |
| Named after | Fuller Albright |
Albright's hereditary osteodystrophy is a form of osteodystrophy,[4] and is classified as the phenotypeofpseudohypoparathyroidism type 1A; this is a condition in which the body does not respond to parathyroid hormone.[1]
The disorder is characterized by the following:[1]
Individuals with Albright hereditary osteodystrophy exhibit short stature, characteristically shortened fourth and fifth metacarpals, rounded facies, and often mild intellectual deficiency.[5]
This condition is associated with genetic imprinting. It is thought to be inherited in an autosomal dominant pattern, and seems to be associated with a Gs alpha subunit deficiency.[2]
The mechanism of this condition is due to Gs signaling decrease in hormones having to do with signal transduction which is when a signal from outside cell causes change within the cell (in function). Renal tubule cells only express maternal alleles (variant form of a gene).[6][7][8]
The diagnosis of Albright's hereditary osteodystrophy is based on the following exams below:[9]
Treatment consists of maintaining normal levels of calcium, phosphorus, and vitamin D. Phosphate binders, supplementary calcium and vitamin D will be used as required.[3]
The disorder bears the name of Fuller Albright, who characterized it in 1942.[12] He was also responsible for naming it "Sebright bantam syndrome," after the Sebright bantam chicken, which demonstrates an analogous hormone insensitivity. Much less commonly, the term Martin-Albright syndrome is used, this refers to Eric Martin.[13]
This article incorporates text in the public domain from page 798 of the 20th edition of Gray's Anatomy (1918)
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