Atatürk Üniversitesi Tıp Fakültesi Cerrahi Tıp Bilimleri Dergisi (Apr 2023)
MEN 2A WITH PRIMARY HYPERPARATHYROIDISM AND INTRATHYROIDAL PARATHYROID TISSUE: A RARE CASE REPORT
Abstract
Multiple endocrine neoplasia type 2 (MEN Type 2) syndrome (Sipple syndrome) is a syndrome associated with mutations in the autosomal dominant inherited RET protooncogene. MEN Type 2 syndrome, which has three clinical subtypes, the clinical findings of the MEN 2A subtype are medullary thyroid carcinoma, primary hyperparathyroidism, and pheochromocytoma. In the literature, patients diagnosed with MEN 2A are often first presented with medullary thyroid carcinoma. Cases of MEN 2A presenting with parathyroid adenoma firstly are rare. In this case, an 18-year-old female patient who came to the internal medicine outpatient clinic with complaints of flank pain lasting for four years, nausea and headache for a month, was hospitalized to the internal medicine endocrinology clinic for further examinations. The patient was consulted to the otorhinolaryngology clinic because the patient's parathormone and blood calcium levels were high in the examinations and parathyroid adenoma was observed in the scintigraphy. Frozen tissue sample of operated patient’s was compatible with parathyroid adenoma. The patient, whose blood calcium and parathormone levels were high after the operation, was rehospitalized to the endocrinology clinic. Pheochromocytoma diet was applied to the patient whose genetic test result was reported as multiple endocrine neoplasia type 2A. Thyroid nodule was observed in the neck ultrasonography. As a result of this, fine needle aspiration biopsy was performed on the patient. After total thyroidectomy was performed to the patient whose fine needle aspiration biopsy was reported as medullary thyroid carcinoma, the patient's clinical and laboratory findings regressed.
