GNAS is a complex imprinted gene that uses multiple promoters to generate several gene products, including the G protein alpha-subunit (G(s)alpha) that couples seven-transmembrane receptors to the cAMP-generating enzyme adenylyl cyclase. Somatic activating G(s)alpha mutations, which alter key residues required for the GTPase turn-off reaction, are present in various endocrine tumors and fibrous...

Fibrous Dysplasia of bone is an uncommon congenital skeletal disorder that is found equally in both genders and is not inherited. Fibrous Dysplasia is characterized either monostotic or polyostotic, and may occur as a component of McCune Albright Syndrome or the rare Mazabraud Syndrome. Long bones, skull bones and ribs are most commonly affected bones. We present a case of a 18 years old boy ha...

BACKGROUND McCune Albright syndrome is rare with an estimated prevalence of 1 in 100,000 to 1 in 1,000,000 persons. The classical clinical triad consists of fibrous dysplasia of the bone, café-au-lait skin spots and precocious puberty. However, in rare cases, there may be primary hypogonadism and amenorrhea. CASE PRESENTATION An eighteen-year-old female presented with amenorrhea. She had a sh...

Type E brachydactyly is a digital malformation which characteristically causes an asymmetrical shortening of one or more metacarpals or metatarsals or both. Although commonly seen as part of a syndrome, it can be inherited as an autosomal dominant characteristic, the gene acting with variable expressivity, but complete penetrance. As an Albright hereditary osteodystrophy (AHO)-like syndrome inc...

Fibrous dysplasia (FD) is a benign intramedullary fibroosseous lesion originally described by Lichtenstein in 1938 and by Lichtenstein and Jaffe in 1942. 1 This is a benign dysplastic process of altered osteogenesis that may occur within a single bone (monostotic) or multiple bones (polyostotic), 2 and is best understood as a dysplastic anomaly of bone forming mesenchymal tissue. 3 It is a spor...

BACKGROUND Fibrous dysplasia (FD) is a benign fibro-osseous lesion related to an abnormal bone development and replacement by fibrous tissue. FD has three clinical patterns namely monostotic, polyostotic, and the McCune-Albright syndrome (MAS). MAS is a rare genetic disorder (about 3% of all FD's) that comprises a triad of polyostotic FD, café-au-lait skin macules, and precocious puberty. MAS c...