Hereditary tumor syndromes with distinct patterns of organ involvement.
Mutations in the MEN1 gene typically cause type 1 multiple endocrine neoplasia (MEN1), and mutations in the RET proto-oncogene typically cause type 2 multiple endocrine neoplasia (MEN2).
Prophylactic thyroidectomy in childhood is indicated in MEN2.
Medical management of hormonal hypersecretion is important for symptom control.
Most tumors require surgical evaluation, although surgical cure is not always possible.
Genetic carriers require lifelong monitoring, even after successful operations.
Morbidity and mortality result from both hormonal hypersecretion and metastases.
Multiple endocrine neoplasia (MEN) syndromes are hereditary tumor syndromes of variable neoplastic patterns and characterized by the development of multiple endocrine tumors. Tumors can include parathyroid adenomas, pituitary adenomas (which may be nonsecretory or affect the profiles of adrenocorticotropic hormone, growth hormone, TSH, and/or prolactin), enteropancreatic neuroendocrine tumors (which may affect the profiles of gastrin, insulin, glucagon, and/or vasoactive intestinal protein), facial lipomas, facial angiofibromas, medullary thyroid cancers, and pheochromocytomas.
History and exam
- 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)
- 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)
Department of Endocrinology
Barts and the London NHS Trust and Queen Mary University of London
RG declares that she has no competing interests.
Senior Lecturer & Honorary Consultant
Department of Endocrinology
Barts and the London Medical School
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.
Division of Endocrinology and Diabetes
The Children's Hospital of Philadelphia
ML declares that he has no competing interests.
Associate Professor of Endocrinology
Catholic University School of Medicine
SC declares that he has no competing interests.
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