Medullary thyroid carcinoma and pheochromocytoma in multiple endocrine neoplasia type 2A - a reversed order diagnosis

Gomes, Ana Coelho; Silvestre, Catarina; Marcalo, Jose; Carvalho, Maria Raquel; Bugalho, Maria João

doi:10.1530/endoabs.49.ep157

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2021

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“…Adequate genetic counseling including further available management modalities should be offered to the patent before subjecting them to the relatively expensive tests. 6,7…”

Section: Investigationsmentioning

confidence: 99%

Multiple Endocrine Neoplasia 2A with Late-onset Medullary Carcinoma Thyroid and Bilateral Pheochromocytoma: A Complex Presentation

Rao¹,

Hussain²,

Puzhakkal³

2021

Indian Journal of Endocrine Surgery and Research

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Medullary carcinoma thyroids (MTCs) are rare malignancies of the thyroid gland, which arise from the parafollicular C-cells. They account for 5% of thyroid malignancies. The index case presented to us with bilateral pheochromocytomas and MTC. The family treated by us included the index case of MEN2A who underwent bilateral adrenalectomy and total thyroidectomy with central compartment neck dissection, his father with MTC treated with thyroid surgery and brother with a solitary nodule thyroid under evaluation. Father succumbed to the disease 8 months later. Surgery is the primary treatment in MTC with genetic testing, contributing to early diagnosis and treatment. MTC with MEN2A is a rare entity, with our case presenting in the third decade with no metastases. Diagnosis of MEN2A involves the complex biochemical workup followed by adrenal surgery before thyroidectomy. A poor understanding would lead to major catastrophe. Hence, there is a need to report this rare occurrence in a family.

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“…Adequate genetic counseling including further available management modalities should be offered to the patent before subjecting them to the relatively expensive tests. 6,7…”

Section: Investigationsmentioning

confidence: 99%