A case study of multiple endocrine neoplasia type 2a

Ines Mezghani; Omaima Hammami; Rim Marrakchi; Faten Hajkacem; Mariem Boudaya; Kamel Jammoussi; Nabila Rekik; Mohamed Abid; Mouna Turki

doi:10.1530/endoabs.99.EP758

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Endocrine Abstracts (2024) 99 EP758 | DOI: 10.1530/endoabs.99.EP758

ECE2024 Eposter Presentations Endocrine-Related Cancer (90 abstracts)

A case study of multiple endocrine neoplasia type 2a

Ines Mezghani ¹ , Omaima Hammami ¹ , Rim Marrakchi ¹ , Faten Hajkacem ² , Mariem Boudaya ¹ , Kamel Jammoussi ¹ , Nabila Rekik ² , Mohamed Abid ² & Mouna Turki ¹

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¹Hedi Chaker University Hospital, Biochemistry Departement, sfax, Tunisia; ²Hedi Chaker University Hospital, Endocrinolgy Departement, sfax, Tunisia

Introduction: Multiple endocrine neoplasia type 2A (MEN2A) is a rare genetic tumor syndrome due to germline mutations of the RET proto-oncogene, which is characterized by medullary thyroid cancer (MTC), pheochromocytoma, and primary hyperparathyroidism. Our aim was to report a case of a patient with MEN2.

Observation: A 45-year-old patient, with a history of diabetes and corticotropic insufficiency, consulted for paresthesias. The biology showed hypercalcemia at 2.7 mmol/l. The etiological investigation concluded to primary hyperparathyroidism (PTH=280 ng/l). Cervical ultrasound showed a right thyroid nodule TIRADS 5 and scintigraphy MIBI showed a right parathroid adenoma. The patient underwent surgery. The pathological examination concluded that there was a right parathyroid adenoma with medullary thyroid cancer (MTC) (T1N0M0). The assessment of the postoperative evolution was: PTH: 8.28 ng/l and hypocalcemia: 1.93 mmol/l. After surgery, the patient was addressed for paroxysmal hypertensive crises. The dosage of plasma methoxylated derivatives were elevated to 11× the normal. The topographical assessment revealed two large adrenal masses fixing the MIBG confirming the diagnosis of a bilateral pheochromocytoma. The patient was operated by a bilateral adrenalectomy in 2 stages. The diagnosis of MEN2a neoplasia was made and the genetic study is in progress.

Conclusions: MEN2 is a rare disease. This case study illustrates the importance of recognizing the clinical manifestations of MEN2. Early diagnosis and optimal workup allow for prompt interventions and to decrease the morbidity and mortality associated with MEN2.