CEDIE   05498
CENTRO DE INVESTIGACIONES ENDOCRINOLOGICAS "DR. CESAR BERGADA"
Unidad Ejecutora - UE
congresos y reuniones científicas
Título:
Multiple Endocrine Neoplasia Type 2B (MEN 2B): Relevance of Early Diagnosis
Autor/es:
A VIEITES; G SANSÓ; G LEVIN; S IORCANSKY; M BARONTINI
Lugar:
Costa do Sauipe,
Reunión:
Congreso; XXI Annual Meeting of the Sociedad Latino-Americana de Endocrinología Pediátrica (SLEP).; 2010
Institución organizadora:
Sociedad Latino-Americana de Endocrinología Pediátrica (SLEP)
Resumen:
Multiple endocrine neoplasia Type 2B  (MEN 2B), an autosomal dominant syndrome is characterized by peculiar phenotype, aggressive medular thyroid carcinoma (MTC) and pheochromocytoma. Progress in the field of molecular biology and phenotype recognition have enabled early diagnosis substantially improving patients survival. The prolonged lifespan of these patients has opened concerns about long-term morbidity, reproductive capacity and future of offspring’s. The aim of this study was the present clinical, biochemical and genetic studies in a group of MEN 2B oatients. Seventeen individuals, male 9 females 8 (aged 6-42y), belonging to 14 families were studied. All of them presented the characteristic phenotype and the classical M918T mutation. Twins carriers 7-years old were detected. MTC was present in all index cases and also in the two twins in whom profilactic thyroidectomy was performed. All patients show increased calcitonin levels before thyroidectomy. After surgery calcitonin levels remained high in all of index cases. In two carriers became undetectable after surgery. Six patients died from MTC ( range 17-42y). Bilateral pheochromocytoma was present in 5/15 patients. We conclude that genetic screening and early diagnosis is highly recommended to improve the outcome of the disease in affected patients