Albright's hereditary osteodystrophy

Albright's hereditary osteodystrophy is a form of osteodystrophy that is classified as the physical phenotype of pseudohypoparathyroidism type 1A, a condition in which the body does not respond properly to parathyroid hormone. People with it typically have short stature, a rounded face, shortened fourth and fifth metacarpals and often a mild intellectual deficit. Other listed features include hypogonadism, calcification of the choroid plexus, hypoplasia of dental enamel and hypocalcemic tetany. The condition is associated with genetic imprinting, is thought to be inherited in an autosomal dominant pattern and appears linked to deficiency of the Gs alpha subunit, so that signaling by several hormones is reduced. Diagnosis rests on clinical features together with serum calcium, phosphorus and parathyroid hormone measurements and a urine test for cAMP and phosphorus. Treatment aims to keep calcium, phosphorus and vitamin D at normal levels. It is named for Fuller Albright, who characterized it in 1942.