Albright's hereditary osteodystrophy is a form of osteodystrophy, and is classified as the phenotype of pseudohypoparathyroidism type 1A; this is a condition in which the body does not respond to parathyroid hormone.

Signs and symptoms

The disorder is characterized by the following: * 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 In geology, a facies ( , ; same pronunciation and spelling in the plural) is a body of rock with specified characteristics, which can be any observable attribute of rocks (such as their overall appearance, composition, or condition of formatio ...

, 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

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.

Mechanism

The mechanism of this condition is due to Gs signaling decrease in hormones having to do with

signal transduction Signal transduction is the process by which a chemical or physical signal is transmitted through a cell as a series of molecular events, most commonly protein phosphorylation catalyzed by protein kinases, which ultimately results in a cellula ...

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).

Diagnosis

The diagnosis of Albright's hereditary osteodystrophy is based on the following exams below: * clicical features * serum calicum, phosphorus, PTH * Urine test for

cAMP Camp may refer to: Outdoor accommodation and recreation * Campsite or campground, a recreational outdoor sleeping and eating site * a temporary settlement for nomads * Camp, a term used in New England, Northern Ontario and New Brunswick to descri ...

and phosphorus

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.

History

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 The Sebright (IPA: ) is a British breed of bantam chicken. It is a true bantam – a miniature bird with no corresponding large version – and is one of the oldest recorded British bantam breeds. It is named after Sir John Saunders Sebrig ...

chicken, which demonstrates an analogous hormone insensitivity. Much less commonly, the term Martin-Albright syndrome is used, this refers to Eric Martin.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.

References

External links

{{Osteochondropathy Autosomal dominant disorders Genodermatoses Rare diseases