Albright's hereditary osteodystrophy
Template:Short description Script error: No such module "about". Template:Infobox medical condition (new) Albright's hereditary osteodystrophy is a form of osteodystrophy,[1] and is classified as the phenotype of pseudohypoparathyroidism type 1A; this is a condition in which the body does not respond to parathyroid hormone.[2]
Signs and symptoms
The disorder is characterized by the following:[2]
- Hypogonadism
- Brachydactyly syndrome
- Choroid plexus calcification
- Hypoplasia of dental enamel
- Full cheeks
- Hypocalcemic tetany
Individuals with Albright hereditary osteodystrophy exhibit short stature, characteristically shortened fourth and fifth metacarpals, rounded facies, and often mild intellectual deficiency.[3]
Genetics
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.[4]
Mechanism
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).[5][6][7]
Diagnosis
The diagnosis of Albright's hereditary osteodystrophy is based on the following exams below:[8]
Treatment
Treatment consists of maintaining normal levels of calcium, phosphorus, and vitamin D. Phosphate binders, supplementary calcium and vitamin D will be used as required.[11]
History
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]
See also
References
Public domain This article incorporates text in the public domain from Template:Wikidatathe 20th edition of Gray's Anatomy (1918) Template:Main other Template:Reflist
Further reading
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External links
Template:Medical resourcesTemplate:Scholia Template:Osteochondropathy Template:Authority control
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- ↑ F. Albright, C. H. Burnett, P. H. Smith, et al. Pseudo-hypoparathyroidism-example of 'Seabright-Bantam syndrome'; report of three cases. Endocrinology, Baltimore, 1942, 30: 922-932.
- ↑ D. Martin, J. Bourdillon. Un cas de tétanie idiopathique chronique. Échec thérapeutique de la graffe d'un adénome parathyroïdien. Revue médicale de la Suisse romande, Lausanne, 1940, 60: 1166-1177.