General Information About McCune-Albright Syndrome
Disease Details and Frequently Asked Questions
It is a very rare genetic syndrome that affects bones, skin, and hormone-producing glands simultaneously, characterized by the deterioration of bone tissue and early sexual development.
No. The GNAS gene mutation causing the disease is not passed from the mother or father. It occurs randomly (somatically) during cell division while the baby is developing in the womb.
Café-au-lait colored skin spots with irregular borders seen on one side of the body, frequent fractures due to the melting of bones and replacement with fibrous (connective) tissue, and premature menstrual bleeding in girls as early as 2-3 years old.
Due to the genetic defect, the glands operate on their own without receiving commands from the brain. In addition to precocious puberty, the thyroid gland may overwork (hyperthyroidism), or acromegaly may develop due to excess growth hormone.
It is clinically diagnosed by typical skin spots, characteristic areas of melting in bone films (X-rays), and early elevated hormone values in blood tests.
Bisphosphonate group drugs are given intravenously to stop bone destruction and prevent fractures. Special agents that suppress sex hormones (Letrozole, etc.) are used to stop precocious puberty and excessive bone lengthening.
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