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Multiple endocrine neoplasia syndromes

Last reviewed: 3 Sep 2024
Last updated: 23 Aug 2024

Summary

Definition

History and exam

Key diagnostic factors

  • young age (MEN1/2)
  • positive family history (MEN1/2)
  • episodic triad of sweating, palpitations, and headache (MEN2)
  • clinical features of kidney stones (MEN1/2)
  • facial angiofibromas or collagenomas (MEN1)
  • mucosal neuromas (MEN2B)
  • arm span and upper-to-lower-body-segment ratio (MEN2B)
  • palpable thyroid nodule (MEN2)
  • irregular menses (MEN1)
  • visual changes (MEN1)
  • unexplained flushing (MEN2)
  • infertility (MEN1)
  • clinical features of acromegaly (MEN1)
  • clinical features of thyrotoxicosis (MEN1)
Full details

Other diagnostic factors

  • weight changes (MEN1/2)
  • hypertension (MEN1/2)
  • abdominal pain (MEN1/2)
  • headache (MEN1/2)
  • low-trauma fractures (MEN1)
  • altered bowel habit (MEN1/2)
  • palpitations (MEN1/2)
  • easy bruising (MEN1/2)
  • slow wound healing (MEN1/2)
  • erectile dysfunction (MEN1)
  • clinical features of hypercortisolism/Cushing syndrome (MEN1/2)
  • anxiety (MEN1/2)
  • heat intolerance (MEN1)
  • confusion (MEN1/2)
  • dehydration (MEN1/2)
  • gastrointestinal bleeding (MEN2)
  • hepatomegaly (MEN2)
Full details

Risk factors

  • familial cases of MEN
  • RET proto-oncogene mutation
  • MEN1 (menin) mutation
Full details

Diagnostic tests

1st tests to order

  • serum calcitonin (MEN2)
  • serum carcinoembryonic antigen (MEN2)
  • plasma metanephrines (MEN2)
  • serum parathyroid hormone and calcium (MEN1/2)
  • fasting serum gastrin (MEN1)
  • serum chromogranin A (MEN1)
  • serum prolactin (MEN1)
  • insulin-like growth factor-1 (MEN1)
  • 24-hour urine metanephrines and catecholamines (MEN2)
  • 24-hour urine calcium (MEN1/2)
  • thyroid biopsy (MEN2)
Full details

Tests to consider

  • fasting serum glucose/insulin (MEN1)
  • serum C peptide (MEN1)
  • calcium-stimulated gastrin (MEN1)
  • serum proinsulin (MEN1)
  • serum pancreatic polypeptide (MEN1)
  • serum glucagon (MEN1)
  • T4 (free thyroxine) (MEN1)
  • thyroid-stimulating hormone (TSH) (MEN1)
  • dexamethasone suppression test (MEN1/2)
  • urine sulfonylurea (MEN1/2)
  • metaiodobenzylguanidine scintiscan (MIBG) (MEN2)
  • 18F-fluorodihydroxyphenylalanine (18F-DOPA) positron emission tomography (PET)/CT abdomen and pelvis (MEN2)
  • octreotide scan (MEN1)
  • gallium-68 DOTATATE PET/CT abdomen and pelvis (MEN1 and 2)
  • technetium 99 sestamibi scintiscan (MEN1/2)
  • abdominal CT (MEN1/2)
  • abdominal MRI (MEN1/2)
  • chest CT or MRI (MEN1)
  • pituitary MRI (MEN1)
  • endoscopic ultrasonography (MEN1)
  • upper gastrointestinal endoscopy (MEN1)
  • Helicobacter pylori breath test, biopsy, or stool antigen test (MEN1/2)
Full details

Treatment algorithm

INITIAL

family history of MEN2

ONGOING

MEN1

MEN2

Contributors

Authors

Rebecca Gorrigan, BSc, MBChB (hons), MRCP

Consultant Physician and Endocrinologist

Department of Endocrinology

Barts and the London NHS Trust and Queen Mary University of London

London

UK

Disclosures

RG declares that she has no competing interests.

Maralyn Druce, MA, MRCP, PhD

Professor of Endocrine Medicine

Department of Endocrinology

Barts and the London Medical School

London

UK

Disclosures

MD has received fees for consulting from Ipsen and Novartis; their products are used in the treatment of neuroendocrine tumors. Neuroendocrine tumors of the pancreas are features of MEN1. The topic does not discuss specific therapies for features of the condition.

Acknowledgements

Dr Rebecca Gorrigan and Professor Maralyn Druce would like to gratefully acknowledge Dr Jennifer Mammen and Dr Roberto Salvatori, previous contributors to this topic.

Disclosures

JM and RS declare that they have no competing interests.

Peer reviewers

Michael Levine, MD, FAAP, FACP

Director

Division of Endocrinology and Diabetes

The Children's Hospital of Philadelphia

Philadelphia

PA

Disclosures

ML declares that he has no competing interests.

Salvatore Corsello, MD

Associate Professor of Endocrinology

Catholic University School of Medicine

Rome

Italy

Disclosures

SC declares that he has no competing interests.

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