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Endocrinol. nutr. (Ed. impr.) ; 53(6): 382-387, jun. 2006. tab
Article in Es | IBECS | ID: ibc-046312

ABSTRACT

Se presenta el caso de una mujer que 5 años después de haber sido diagnosticada de feocromocitoma adrenal derecho e hiperparatiroidismo primario, desarrolló una acromegalia por adenoma hipofisario. Se descartó la existencia de carcinoma medular de tiroides y de mutación germinal en RET y en VHL. La determinación del gen MEN-1 también resultó negativa. Se dan en este caso la existencia de un tumor característico de la NEM-2 como el feocromocitoma, otro característico de la NEM-1 como el adenoma hipofisario secretor de GH e hiperparatiroidismo primario, que se da en ambas neoplasias endocrinas múltiples, pero sin mutaciones germinales en RET, VHL y MEN-1


We present the case of a 56-year-old woman who, 5 years after receiving a diagnosis of unilateral adrenal pheochromocytoma and primary hyperparathyroidism, was diagnosed with acromegaly caused by a growth hormone-secreting pituitary adenoma. No germ-line mutations in RET, VHL and MEN-1 gene were detected. Medullar thyroid carcinoma was also ruled out. Therefore, the present case shows coexistence of a tumor characteristic of MEN 2 syndrome (pheochromocytoma) with a growth hormone-secreting pituitary tumor characteristic of MEN 1 syndrome and primary hyperparathyroidism, which can be observed in both multiple endocrine neoplasia syndromes, but without germ-line mutations in RET, VHL and MEN-1


Subject(s)
Female , Middle Aged , Humans , Acromegaly/complications , Pheochromocytoma/complications , Hyperparathyroidism/complications , Prolactinoma/complications , Multiple Endocrine Neoplasia Type 2a/diagnosis , Multiple Endocrine Neoplasia Type 1/diagnosis , von Hippel-Lindau Disease/diagnosis
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