STK11 (Peutz-Jeghers Syndrome): Other Considerations
Other Medical Concerns for People with Inherited Mutations
People with develop noncancerous tumor-like growths called hamartomas. These growths most often form in the gastrointestinal tract, especially in the stomach and intestines.
Children with often develop small, dark-colored spots on the lips, around and inside the mouth, near the eyes and nostrils, and around the anus. These spots may also occur on the hands and feet. These spots appear during childhood and often fade as the person gets older. Most people with develop multiple in the stomach and intestines during childhood or adolescence. can cause health problems such as recurrent bowel obstructions, chronic bleeding, and abdominal pain beginning at a young age.
Some people with mutations have mutations that they did not inherit from either parent. These are known as "de novo" mutations. People with de novo mutations can pass them on to their children.
Because of the high lifetime risk and early onset of medical issues with Peutz-Jeghers syndrome, people of reproductive age may wish to speak with a fertility expert prior to having children. There are options using assisted reproductive technology and preimplantation genetic diagnosis for parents to select embryos that are free of an inherited mutation.