Search results
Results From The WOW.Com Content Network
McCune–Albright syndrome is a complex genetic disorder affecting the bone, skin and endocrine systems. It is a mosaic disease arising from somatic activating mutations in GNAS , which encodes the alpha-subunit of the G s heterotrimeric G protein .
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]
The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child.
Managing endocrinopathies is a critical component of management in FD. All patients with fibrous dysplasia should be evaluated and treated for endocrine diseases associated with McCune–Albright syndrome. In particular untreated growth hormone excess may worsen craniofacial fibrous dysplasia and increase the risk of blindness. [23]
Moreover, he also worked on identifying a gain-of-function mutation in the GNAS gene as the basis for constitutive activation of adenylyl cyclase in the McCune-Albright syndrome and confirmed that the unusual distribution of the endocrine, cutaneous, and skeletal lesions in the syndrome is the result of a postzygotic mosaicism. [9]
The condition is commonly inherited in connection with fragile X syndrome (FXS), which is also the second most common genetic cause of intellectual disability. [1] The condition is also a rare sign of McCune–Albright syndrome. [2] The opposite of macroorchidism is called microorchidism, which is the condition of abnormally small testes.
Fuller Albright (January 12, 1900 – December 8, 1969) was an American endocrinologist who made numerous contributions to his field, especially to the area of calcium metabolism. [1] Albright made great strides and contributions to the understanding of disorders associated with calcium and phosphate abnormalities in the body.
McCune–Albright syndrome includes polyostotic fibrous dysplasia as part of its presentation. [4] When polyostotic fibrous dysplasia manifests in the long bones, limping results; when it manifests in the face, asymmetric growth of the face can result. [3] One treatment that has been used is bisphosphonates. [5]