What is peutz jegher sendromu?

Peutz-Jeghers syndrome is a rare genetic disorder that affects multiple body systems. It is inherited in an autosomal dominant pattern, which means a person only needs a single copy of the mutated gene to develop the condition. The syndrome is caused by mutations in the STK11 gene, which plays a role in regulating cell growth and division.

Symptoms of Peutz-Jeghers syndrome include the development of dark, noncancerous tumors called hamartomas in the gastrointestinal tract and on the skin and mucous membranes. These tumors can cause abdominal pain, cramping, and bleeding, as well as bowel obstructions. Additionally, people with Peutz-Jeghers syndrome have an increased risk of developing certain cancers, including breast, pancreas, stomach, ovary, and colorectal cancer.

There is currently no cure for Peutz-Jeghers syndrome. Treatment focuses on managing symptoms and preventing complications, such as surgical removal of obstructive hamartomas and regular surveillance for cancer. Genetic counseling is recommended for affected individuals and their families.