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.

Multiple endocrine neoplasia syndromes

Última revisión: 28 Sep 2025
Última actualización: 20 May 2025

Resumen

Definición

Anamnesis y examen

Principales factores de diagnóstico

  • 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)
Todos los datos

Otros factores de diagnóstico

  • 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)
Todos los datos

Factores de riesgo

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

Pruebas diagnósticas

Primeras pruebas diagnósticas para solicitar

  • 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)
Todos los datos

Tests to avoid

  • plasma catecholamines
Todos los datos

Pruebas diagnósticas que deben considerarse

  • 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)
  • genetic testing
Todos los datos

Algoritmo de tratamiento

Inicial

family history of MEN2

En curso

MEN1

MEN2

Colaboradores

Autores

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

Divulgaciones

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

Divulgaciones

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.

Agradecimientos

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

Divulgaciones

JM and RS declare that they have no competing interests.

Revisores por pares

Michael Levine, MD, FAAP, FACP

Director

Division of Endocrinology and Diabetes

The Children's Hospital of Philadelphia

Philadelphia

PA

Divulgaciones

ML declares that he has no competing interests.

Salvatore Corsello, MD

Associate Professor of Endocrinology

Catholic University School of Medicine

Rome

Italy

Divulgaciones

SC declares that he has no competing interests.

Agradecimiento de los revisores por pares

Los temas de BMJ Best Practice se actualizan de forma continua de acuerdo con los desarrollos en la evidencia y en las guías. Los revisores por pares listados aquí han revisado el contenido al menos una vez durante la historia del tema.

Divulgaciones

Las afiliaciones y divulgaciones de los revisores por pares se refieren al momento de la revisión.

Referencias

Nuestros equipos internos de evidencia y editoriales colaboran con colaboradores expertos internacionales y revisores pares para garantizar que brindemos acceso a la información más clínicamente relevante posible.

Artículos principales

Thakker RV, Newey PJ, Walls GV, et al; Endocrine Society. Clinical practice guidelines for multiple endocrine neoplasia type 1 (MEN1). J Clin Endocrinol Metab. 2012 Sep;97(9):2990-3011.Texto completo  Resumen

Wells SA Jr, Pacini F, Robinson BG, et al. Multiple endocrine neoplasia type 2 and familial medullary thyroid carcinoma: an update. J Clin Endocrinol Metab. 2013 Aug;98(8):3149–64.Texto completo  Resumen

Wells SA Jr, Asa SL, Dralle H, et al. Revised American Thyroid Association guidelines for the management of medullary thyroid carcinoma. Thyroid. 2015 Jun;25(6):567-610.Texto completo  Resumen

Al-Salameh A, Cadiot G, Calender A, et al. Clinical aspects of multiple endocrine neoplasia type 1. Nat Rev Endocrinol. 2021 Apr;17(4):207-24.Texto completo  Resumen

Artículos de referencia

Una lista completa de las fuentes a las que se hace referencia en este tema está disponible para los usuarios con acceso a todo BMJ Best Practice.
  • Diferenciales

    • Hyperparathyroidism-jaw tumor syndrome
    • Familial isolated hyperparathyroidism
    • Sporadically occurring primary hyperparathyroidism
    Más Diferenciales
  • Guías de práctica clínica

    • NCCN clinical practice guidelines in oncology: neuroendocrine and adrenal tumors
    • Systemic therapy for tumor control in metastatic well-differentiated gastroenteropancreatic neuroendocrine tumors
    Más Guías de práctica clínica
  • padlock-lockedInicie sesión o suscríbase para acceder a todo el BMJ Best Practice

El uso de este contenido está sujeto a nuestra cláusula de exención de responsabilidad