Abstract
Medullar thyroid cancer (MTC) may be sporadic or familial, either linked with pheocromocytoma (PHEO) and primary hyperparathyrodism (PHP), as seen in type 2A MEN (Multiple Endocrine Neoplasia) syndrome, either isolated. This is a 56-year old female known with mild arterial hypertension controlled under therapy, having a daughter with type 2A MEN syndrome (PHEO, MTC, PHP). Mild hypercalcemia and high parathormone were consistent for PHP, while calcitonin was 20 times above the upper normal limit for MTC. The PHEO tests were negative. Anterior cervical ultrasound confirmed a 2.7 cm thyroid nodule, local lymph nodes, and enlargement of inferior and superior left prarathyroids. After total thyroidectomy with bilateral neck dissection and excision of the left inferior and superior parathyroid glands, MTC and parathyroid hyperplasia was confirmed. Calcitonin decreased to 5 times above the normal level. Further close follow-up and therapy of residual MTC is needed. MEN 2A Syndrome may embrace various clinical presentations with more or less aggressive tumours, sometimes allowing a long time survival without neoplasia confirmation or incomplete phenotype until advanced age.
Highlights
Mm = millimetre; ACE = angiotensin-converting-enzyme; DXA = Dual-Energy X-Ray Absorptiometry; FT4 = free levothyroxine; Medullar thyroid cancer (MTC) = Medullar Thyroid Cancer; MEN = Multiple Endocrine Neoplasia; PHEO = pheocromocytoma; primary hyperparathyrodism (PHP) = primaty hyperparathyroidism; PTH = parathyroid hormone; RET = REarranged during Transfection; TSH = Thyroid Stimulating Hormone; TPO = antithyreoperoxidase antibodies; US = ultrasound
We aim to introduce an adult female case having a late recognition of the syndrome despite relevant family history and displaying a particular clinical presentation with positive HPT before PHEO confirmation
In association with family medical history, these data raised the question of a MEN 2A syndrome, so the adrenal tests seeking for PHEO were done (Table 1)
Summary
Mm = millimetre; ACE = angiotensin-converting-enzyme; DXA = Dual-Energy X-Ray Absorptiometry; FT4 = free levothyroxine; MTC = Medullar Thyroid Cancer; MEN = Multiple Endocrine Neoplasia; PHEO = pheocromocytoma; PHP = primaty hyperparathyroidism; PTH = parathyroid hormone; RET = REarranged during Transfection; TSH = Thyroid Stimulating Hormone; TPO = antithyreoperoxidase antibodies; US = ultrasound. Medullar thyroid cancer (MTC) may be sporadic or familial, either linked with pheocromocytoma (PHEO) and primary hyperparathyrodism (PHP) as seen in type 2A MEN (Multiple Endocrine Neoplasia) syndrome, or isolated [1,2]. In association with family medical history, these data raised the question of a MEN 2A syndrome, so the adrenal tests seeking for PHEO were done (including chromogranin A, 24-hour urinary metanephrines and normetanephrines) (Table 1). No hormonal or imagery clue of the adrenal tumour was found
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