Albright's hereditary osteodystrophy

This article is about the subtype of pseudohypoparathyroidism known as Albright's hereditary osteodystrophy. For the genetically-related condition, see McCune–Albright syndrome.

Albright's hereditary osteodystrophy is a form of osteodystrophy,^[4] and is classified as the phenotype of pseudohypoparathyroidism type 1A; this is a condition in which the body does not respond to parathyroid hormone.^[1]

Albright's hereditary osteodystrophy
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

Signs and symptoms

Choroid plexus(bottom left)

The disorder is characterized by the following:^[1]

• 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.^[5]

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.^[2]

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).^[6][7][8]

Diagnosis

The diagnosis of Albright's hereditary osteodystrophy is based on the following exams below:^[9]

• Clinical features
• Serum calcium, phosphorus, PTH^[10]
• Urine test for cAMP and phosphorus^[11]

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.^[3]

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

• Pseudopseudohypoparathyroidism