When viewing this topic in a different language, you may notice some differences in the way the content is structured, but it still reflects the latest evidence-based guidance.

Peutz-Jeghers syndrome

Last reviewed: 30 Oct 2023
Last updated: 24 Aug 2023



History and exam

Key diagnostic factors

  • small intestinal obstruction
  • mucocutaneous pigmentation
More key diagnostic factors

Other diagnostic factors

  • abdominal discomfort and distension
  • abdominal pain
  • gastrointestinal bleeding
  • polyp prolapse per anus
  • enlarged testicles (without masses)
  • bilateral gynecomastia
  • fatigue
  • pallor
Other diagnostic factors

Risk factors

  • positive family history
  • germline STK11 gene mutation
More risk factors

Diagnostic investigations

1st investigations to order

  • endoscopy
  • magnetic resonance enterography
  • polyp histology
  • STK11 genetic testing
More 1st investigations to order

Treatment algorithm


initially confirmed polyposis: symptomatic or asymptomatic


following initial surveillance colonoscopy



Luke Engelking, MD

Associate Professor of Internal Medicine

UT Southwestern Medical Center




LE is a Principal Investigator for, and has received grant support from, the National Institutes of Health-National Institute of Diabetes and Digestive and Kidney Diseases (NIH-NIDDK) and the Cancer Prevention and Research Institute of Texas.

Po-Hong Liu, MD


UT Southwestern Medical Center




PL declares that he has no competing interests.


Dr Luke Engelking and Dr Po-Hong Liu would like to gratefully acknowledge Dr Brandie Heald, Dr James Church, and Dr Carol A. Burke, previous contributors to this topic.


BH declares that she has received payment from the following but has no contractual agreement to disseminate product information for them: Speakers Bureau Myriad Genetics Lab, and the advisory board for Invitae. BH is also President of the Collaborative Group of the Americas on Inherited Colorectal Cancer, for which she does not receive payment. JC declares that he has no competing interests. CAB receives research support from Cancer Prevention Pharmaceuticals.

Peer reviewers

Daniel Von Allmen, MD

Chief of Pediatric Surgery

University of North Carolina

Chapel Hill



DVA declares that he has no competing interests.

Patrick Morrison, MD

Consultant in Clinical Genetics

Department of Medical Genetics

Belfast HSC Trust




PM declares that he has no competing interests.

  • Peutz-Jeghers syndrome images
  • Differentials

    • Juvenile polyposis syndrome
    • PTEN-hamartoma tumor syndrome
    • Mixed hereditary polyposis syndrome
    More Differentials
  • Guidelines

    • NCCN clinical practice guidelines in oncology: genetic/familial high-risk assessment: colorectal
    • Adverse events associated with EGD and EGD-related techniques
    More Guidelines
  • Patient leaflets

    Colon and rectal cancer: what is it?

    Colon and rectal cancer: what treatments work?

    More Patient leaflets
  • padlock-lockedLog in or subscribe to access all of BMJ Best Practice

Use of this content is subject to our disclaimer