Albright's hereditary osteodystrophy
| Albright's hereditary osteodystrophy | |
|---|---|
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| Albright's hereditary osteodystrophy has an autosomal dominant pattern of inheritance | |
| Classification and external resources | |
| Specialty | endocrinology |
| ICD-10 | E20.1 |
| ICD-9-CM | 275.49 |
| OMIM | 103580 |
| DiseasesDB | 10835 |
Albright's hereditary osteodystrophy is a form of osteodystrophy, due to pseudohypoparathyroidism the body's refusal of parathyroid hormone.
The disorder is characterized by the following:
Individuals with Albright hereditary osteodystrophy exhibit short stature, characteristically shortened fourth and fifth metacarpals, rounded facies, and often mild intellectual deficiency. Albright hereditary osteodystrophy is commonly known as pseudohypoparathyroidism because the kidney responds as if parathyroid hormone were absent. Blood levels of parathyroid hormone are elevated in pseudohypoparathyroidism due to the hypocalcemia
In terms of the genetics of this condition, we find that it 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.
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 tubular cells don't expresses paternal only maternal alleles(variant form of a gene).
The diagnosis of Albright's hereditary osteodystrophy is based on the following exams below:
In regards to the treatment of Albright's hereditary osteodystrophy one finds that should thyroid stimulating hormone prove ineffective then thyroxine is an alternative.Those individuals with hypercalciuria should be given intravenous calcium
The disorder bears the name of Fuller Albright, who characterized it in 1942. 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.
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