İbrahim KARABULUT, Rabia SELEN, Zehra ALTINKAYNAK, Sare ŞİPAL, Arzu BİLEN, İlyas ÇAPOĞLU, Sevilay ÖZMEN

PRİMER HİPERPARATİROİDİZM VE İNTRATİROİDAL PARATİROİD DOKUYLA SEYREDEN MEN 2A: NADİR BİR OLGU SUNUMU

Multiple endokrin neoplazi tip 2 (MEN Tip 2) sendromu (Sipple sendromu), otozomal dominant kalıtılan RET protoonkogenindeki mutasyonlarla ilişkili bir sendromdur. Üç klinik subtipi bulunan bu sendromdan MEN 2A subtipinin klinik bulguları medüller tiroid karsinomu, primer hiperparatiroidizm ve feokromositomadır. Literatürde MEN 2A tanısı alan hastalar sıklıkla ilk olarak medüller tiroid karsinomu ile presente olmaktadır. İlk olarak paratiroid adenomu ile presente olan MEN 2A olguları daha nadirdir. Bu olguda da dört yıldır devam eden yan ağrısı, bir aydır devam eden bulantı ve baş ağrısı şikayetleriyle dahiliye polikliniğine başvuran 18 yaşındaki kadın hastada hiperkalsemi saptanması üzerine hasta ileri tetkik ve incelemeler için dahiliye endokrinoloji kliniğine yatırılmıştır. Hastaya yapılan tetkiklerde hastanın parathormon ve kan kalsiyumu seviyelerinin yüksek olması ve yapılan sintigrafide hastada paratiroid adenomu görülmesi nedeniyle hasta kulak burun boğaz kliniğine danışılmıştır. Opere edilen hastanın frozen dokusu paratiroid adenomuyla uyumluydu. Operasyon sonrası kan kalsiyumu ve parathormon düzeyleri yüksek seyreden hasta tekrar endokrinoloji kliniğine yatırıldı. Genetik test sonucu multiple endokrin neoplazi tip 2A olarak raporlanan hastaya feokromositoma diyeti uygulandı. Yapılan boyun ultrasonografide tiroid nodülü izlenmesi üzerine hastaya ince iğne aspirasyon biyopsisi yapıldı. İnce iğne aspirasyon biyopsisi medüller tiroid karsinomu olarak raporlanan hastaya total tiroidektomi uygulanması üzerine hastanın klinik ve laboratuvar bulguları düzelmiştir.

Anahtar Kelimeler:

Feokromositoma, multiple endokrin neoplazi, paratiroid adenomu, primer hiperparatiroidizm, tiroid medüller karsinomu

MEN 2A WITH PRIMARY HYPERPARATHYROIDISM AND INTRATHYROIDAL PARATHYROID TISSUE: A RARE CASE REPORT

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.

Keywords:

Multiple endocrine neoplasia, parathyroid adenoma, pheochromocytoma, primary hyperparathyroidism, thyroid medullary carcinoma,

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