Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
3278364 | Revista Portuguesa de Endocrinologia, Diabetes e Metabolismo | 2014 | 5 Pages |
ResumoA síndrome de neoplasia endócrina múltipla tipo 1 (MEN1) é transmitida de forma autossómica dominante e caracteriza‐se pela presença de tumores das glândulas paratiroideias, pâncreas endócrino e hipófise. Outros tumores encontram‐se menos frequentemente associados: adenomas da suprarrenal, tumores carcinoides, feocromocitomas, angiofibromas, lipomas, colagenomas e meningiomas. A presença de 2 ou mais tumores permite o diagnóstico clínico.Apresenta‐se o caso de um homem de 56 anos, referenciado à consulta de endocrinologia para investigação de patologia nodular da tiroideia, assintomática, com aspetos benignos na ecografia e citologia aspirativa. Ao exame físico eram evidentes traços faciais grosseiros e mãos grandes. O doente tinha diagnóstico prévio de hipertensão arterial, litíase renal, síndrome de apneia obstrutiva do sono e tinha sido submetido recentemente a excisão de pólipo do cólon (benigno). A história familiar era negativa para patologia endócrina. A avaliação endócrina revelou aumento da hormona de crescimento e IGF‐1 e a prova de tolerância à glicose oral confirmou o diagnóstico de acromegalia. Os níveis séricos das restantes hormonas adeno‐hipofisárias eram normais. A ressonância magnética craniana e selar revelou macroadenoma hipofisário esquerdo e ainda uma volumosa massa extra‐axial frontal esquerda, sugestiva de meningioma. Dada a coexistência de acromegalia e meningioma, foi equacionada a hipótese de síndrome MEN1 e averiguada a presença de endocrinopatias associadas. Os níveis séricos de cálcio e paratormona encontravam‐se aumentados, com função renal e níveis de vitamina D normais, sugerindo hiperparatiroidismo primário. A insulinemia e gastrinemia eram normais. O estudo genético não identificou mutações no gene MEN1.As manifestações fenotípicas e comorbilidades associadas sugeriram o diagnóstico de acromegalia, confirmado laboratorialmente. A associação pouco habitual de acromegalia, meningioma e hiperparatiroidismo primário sugere etiologia genética comum e permite o diagnóstico clínico de síndrome MEN1, com implicações na monitorização clínica do doente e familiares.
Multiple Endocrine Neoplasia type 1 (MEN1) syndrome is inherited as an autosomal dominant trait and is characterized by the presence of tumors in the parathyroid glands, endocrine pancreas and pituitary. Other tumors are more rarely associated: adrenal adenomas, carcinoid tumors, pheochromocytomas, angiofibromas, lipomas, collagenomas and meningiomas. The presence of two or more tumors is diagnostic of the syndrome.We present the case of a 56 year old man referred to the Endocrine consultation for investigation of asymptomatic nodular thyroid disease, with benign features in the neck sonogram and fine needle aspiration cytology. At physical examination, coarse facial features and enlarged hands were apparent. The patient had previous diagnosis of primary hypertension, kidney stones, obstructive sleep apnea syndrome and had recent excision of a colonic polyp (benign). Family history was negative for endocrine disease. The endocrine evaluation revealed increased growth hormone and IGF‐1 and the oral glucose tolerance test confirmed the diagnosis of acromegaly. Seric levels of the remaining anterior pituitary hormones were normal. The cranial and sellar magnetic resonance revealed a left pituitary macroadenoma, and also a voluminous extra‐axial left frontal tumor, suggestive of a meningioma. Due to the coexistence of acromegaly and meningioma, the possibility of MEN1 syndrome was considered and associated endocrinopathies were investigated. Serum levels of calcium and parathormone were increased, with normal renal function and vitamin D levels, suggesting primary hyperparathyroidism. Insulinemia and gastrinemia were normal. Genetic testing did not identify mutations in MEN 1 gene.The phenotypic manifestations of acromegaly and associated co‐morbidities were suggestive of acromegaly, which was biochemically confirmed. The unsual association of acromegaly, primary hyperparathyroidism and meningioma is suggestive of a common genetic background and is clinically diagnostic of MEN1 syndrome, which has implications in future monitoring of the patient and his relatives.