McCune-Albright syndrome is a disorder that affects the bones, skin, and several hormone-producing (endocrine) tissues.
McCune-Albright syndrome is caused by a mutation in the GNAS gene. The GNAS gene provides instructions for making one part of a protein complex called a guanine nucleotide-binding protein, or a G protein.
McCune-Albright syndrome occurs in 1 in 100,000 to 1 in 1,000,000 people worldwide.
McCune-Albright syndrome is not inherited. Instead, it is caused by a random mutation in the GNAS gene that occurs very early in development. As a result, some of the body's cells have a normal version of the GNAS gene, while other cells have the mutated version. This phenomenon is called mosaicism. The severity of this disorder and its specific features depend on the number and location of cells that have the mutated GNAS gene. Affected individuals may have reproductive cells (eggs or sperm) with the mutation. However, a resulting embryo would have the mutation in every cell, which is thought to be incompatible with life, so the condition is not passed to the next generation.
Alison Boyce is an Endocrinologist and a Pediatric Endocrinologist in Washington, Washington, D.c.. Boyce has been practicing medicine for over 16 years and is rated as an Elite expert by MediFind in the treatment of Mccune-Albright Syndrome. She is also highly rated in 14 other conditions, according to our data. Her top areas of expertise are Fibrous Dysplasia, Osteitis Fibrosa, Mccune-Albright Syndrome, and Precocious Puberty. She is licensed to treat patients in Virginia.
Bas Majoor practices in Leiden, Netherlands. Majoor is rated as an Elite expert by MediFind in the treatment of Mccune-Albright Syndrome. They are also highly rated in 4 other conditions, according to our data. Their top areas of expertise are Fibrous Dysplasia, Mccune-Albright Syndrome, Osteitis Fibrosa, Precocious Puberty, and Bone Graft.
Ernesto Ippolito practices in Rome, Italy. Ippolito is rated as an Elite expert by MediFind in the treatment of Mccune-Albright Syndrome. He is also highly rated in 5 other conditions, according to our data. His top areas of expertise are Mccune-Albright Syndrome, Fibrous Dysplasia, Osteitis Fibrosa, Clubfoot, and Bone Graft.
Summary: PTH secretion defects (grouped under the name hypoparathyroidism) are due to abnormalities in the PTH gene, abnormalities in the development of the parathyroid glands which synthesize PTH or abnormalities of the calcium sening receptor whose role is to adapt PTH level to ambient calcium level. In contrast, primary hyperparathyroidism in children is also exceptional; expressed by hypercalcemia, wit...
Summary: Polyostotic fibrous dysplasia (PFD) is a sporadic disorder which affects multiple sites in the skeleton. The bone at these sites is rapidly resorbed and replaced by abnormal fibrous tissue or mechanically abnormal bone. PFD may occur alone or as part of the McCune-Albright Syndrome (MAS), a syndrome originally defined by the triad of PFD, cafe-au-lait pigmentation of the skin, and precocious puber...
Published Date: January 01, 2018Published By: National Institutes of Health