Last reviewed: November 2017
Last updated: November  2015

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)
  • irregular menses (MEN1)
  • clinical features of kidney stones (MEN1/2)
  • visual changes (MEN1)
  • facial angiofibromas or collagenomas (MEN1)
  • mucosal neuromas (MEN2B)
  • arm span and upper-to-lower-body-segment ratio (MEN2B)
  • palpable thyroid nodule (MEN2)
  • unexplained flushing (MEN2)
  • infertility (MEN1)
  • clinical features of acromegaly (MEN1)
  • clinical features of thyrotoxicosis (MEN1)

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's syndrome (MEN1/2)
  • anxiety (MEN1/2)
  • heat intolerance (MEN1)
  • confusion (MEN1/2)
  • dehydration (MEN1/2)
  • gastrointestinal bleeding (MEN2)
  • hepatomegaly (MEN2)

Risk factors

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

Diagnostic investigations

1st investigations 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

Investigations 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 sulphonylurea (MEN1/2)
  • metaiodobenzylguanidine scintiscan (MIBG) (MEN2)
  • 18F-fluorodihydroxyphenylalanine positron emission tomography (18F-DOPA PET)/CT abdomen and pelvis (MEN2)
  • technetium 99 sestamibi scintiscan (MEN1/2)
  • abdominal CT (MEN1/2)
  • abdominal MRI (MEN1/2)
  • chest CT or MRI (MEN1)
  • pituitary MRI (MEN1)
  • octreotide scan (MEN1)
  • endoscopic ultrasonography (MEN1)
  • upper GI endoscopy (MEN1)
  • Helicobacter pylori breath test, biopsy, or stool antigen test (MEN1/2)
Full details

Treatment algorithm

INITIAL
ONGOING

Contributors

Authors VIEW ALL

Research Registrar

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.

Senior Lecturer & Honorary Consultant

Department of Endocrinology

Barts and the London Medical School

London

UK

Disclosures

MD has been reimbursed for travel expenses and conference attendance for ENETS (European Neuroendocrine Tumour Society) by Novartis.

Dr Rebecca Gorrigan and Dr Maralyn Druce would like to gratefully acknowledge Dr Jennifer Mammen and Dr Roberto Salvatori, previous contributors to this monograph. JM and RS declare that they have no competing interests.

Peer reviewers VIEW ALL

Director

Division of Endocrinology and Diabetes

The Children's Hospital of Philadelphia

Philadelphia

PA

Disclosures

ML declares that he has no competing interests.

Associate Professor of Endocrinology

Catholic University School of Medicine

Rome

Italy

Disclosures

SC declares that he has no competing interests.

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