Peutz-Jeghers syndrome

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What is life like for someone with Peutz-Jeghers syndrome?

People with Peutz-Jeghers syndrome (PJS) may have symptoms of tissue growths (polyps) in the intestines as early as childhood and will need to start getting colonoscopies and upper endoscopies (where a flexible tube with a camera attached is inserted either through the colon or mouth to see the intestinal tract) to detect and remove the polyps. They are at high risk for several different types of cancers and will require examinations and screening throughout their lifetime to try to detect and treat the cancers early, such as physical exams and possibly imaging, such as MRI.

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What do people with Peutz-Jeghers syndrome look like?

Do people with Peutz-Jeghers syndrome have normal intelligence?

What should I do if I think I have Peutz-Jeghers syndrome?

What is the survival rate for Peutz-Jeghers syndrome?

Can people with Peutz-Jeghers syndrome have children?

How often is Peutz-Jeghers syndrome not inherited?

What type of growths happen in Peutz-Jeghers syndrome?

What do people with Peutz-Jeghers syndrome look like?

There are typically no distinctive facial features in individuals with Peutz-Jeghers syndrome. People with Peutz-Jeghers syndrome (PJS) typically develop spots of dark skin freckling (mucocutaneous pigmentation) around the mouth, eyes, nostrils, fingers as well as inside the mouth in childhood, but these dark areas usually fade by the teenage years to early adulthood. Some boys with PJS who have a specific type of testicular tumor (Sertoli cell tumor) may have increased breast development (gynecomastia) and may be shorter than average due to abnormal hormone production.

References
Do people with Peutz-Jeghers syndrome have normal intelligence?

Peutz-Jeghers syndrome (PJS) usually does not cause learning disabilities or developmental differences. Individuals with Peutz-Jeghers syndrome are expected to have normal intelligence.

What should I do if I think I have Peutz-Jeghers syndrome?

There are also several different conditions that have symptoms similar to Peutz-Jeghers syndrome (PJS) so it is important to see a doctor specializing in genetics (medical geneticist) or a genetic counselor if you or your doctor thinks you have PJS. You can also find a doctor specializing in medical genetics through the American College of Medical Genetics and Genomics search page and a genetic counselor through the National Society of Genetic Counselors search page. These specialists can help confirm whether you have PJS and help you get the services you need for treatment if needed.

References
What is the survival rate for Peutz-Jeghers syndrome?

People with Peutz-Jeghers syndrome may have a shortened life span, primarily due to the high risks of cancer. Survival is dependent on the specific cancer diagnosis and prognosis. Early detection and treatment may increase survival rates. In addition, a healthy diet, exercise, avoidance of tobacco, and reduction of alcohol consumption may reduce the overall risks of cancer.

Can people with Peutz-Jeghers syndrome have children?

Peutz-Jeghers syndrome (PJS) does not specifically affect a person's ability to have children, though they may experience difficulty due to secondary complications from gastrointestinal obstruction or the development of cancer.

Each child of a person with a mutation in the STK11 gene, which causes PJS, is at 50% risk to also have the mutation and have PJS.

Prenatal testing for Peutz-Jeghers syndrome can be done on an unborn baby (fetus) if there is already a known mutation in a parent or sibling of the fetus through a specialized procedure to get a sample of the placenta (chorionic villus sampling, or "CVS") or amniotic fluid (amniocentesis). Testing of an embryo as part of the IVF process may also be available.

The risks and benefits of prenatal testing for Peutz-Jeghers syndrome should be discussed with a genetic counselor. Visit the National Society of Genetic Counselors website to learn more about genetic counseling services and to find a genetic counselor in your area.

References
How often is Peutz-Jeghers syndrome not inherited?

Random mutations may occur in the STK11 gene, meaning that you may not have inherited the mutation from either parent, but instead, a mutation randomly happened in your while your cells were dividing. This happens in some individuals affected by Peutz-Jeghers syndrome (PJS). Approximately 45% of people with PJS have no family history, so these may be the random mutations.

References
What type of growths happen in Peutz-Jeghers syndrome?

The most common type of polyps in Peutz-Jeghers syndrome (PJS) are hamartomatous polyps. Hamartomatous polyps may be found in other cancer syndromes, but are commonly found in those affected by PJS.

References
  • McGarrity TJ, Amos CI, Baker MJ. Peutz-Jeghers Syndrome. 2001 Feb 23 [Updated 2016 Jul 14]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.(https://www.ncbi.nlm.nih.gov/books/NBK1266/)

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