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

Öz

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

Öz

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.

Anahtar Kelimeler

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

Kaynakça

1. Referans1. Wohllk, Nelson, et al. "Multiple endocrine neoplasia type 2." Best practice & research Clinical endocrinology & metabolism 24.3 (2010): 371-387.
2. Referans2. J.R. Howe, J.A. Norton, S.A. Wells Jr., Prevalence of pheochromocytoma and hyperparathyroidism in multiple endocrine neoplasia type 2A: results of long-term follow-up Surgery , 114 ( 1993 ) , s. 1070 – 1077
3. Referans3. Casey, R., et al. "First reported case in Ireland of MEN2A due to a rare mutation in exon 8 of the RET oncogene." Endocrinology, Diabetes & Metabolism Case Reports 2013 (2013).
4. Referans4. M.A. Skinner, J.A. Moley, W.G. Dilley, et al. Prophylactic thyroidectomy in multiple endocrine neoplasia type 2A N Engl J Med, 353 (2005), pp. 1105-1113
5. Referans5. Ungureanu, Sergiu, et al. "MEN 2A syndrome–Multiple endocrine neoplasia with autosomal dominant transmission." International Journal of Surgery Case Reports 73 (2020): 141-145.
6. Referans6. Seiichi Oishi, Masato Sasaki, Tatsuo Sato, Masahiro Isogai, Coexistence of MEN 2A and Papillary Thyroid Carcinoma and a Recurrent Pheochromocytoma 23 Years after Surgery: Report of a Case and a Review of the Japanese Literature, Japanese Journal of Clinical Oncology, Volume 25, Issue 4, August 1995, Pages 153–158
7. Referans7. Giacomelli, Laura, et al. "Simultaneous occurrence of medullary carcinoma and papillary microcarcinoma of thyroid in a patient with MEN 2A syndrome. Report of a case." Tumori Journal 93.1 (2007): 109-111.
8. Referans8. Okada, Yuji, et al. "Noncardiogenic pulmonary edema as the chief manifestation of a pheochromocytoma: a case report of MEN 2A with pedigree analysis of the RET proto-oncogene." The Tohoku Journal of Experimental Medicine 188.2 (1999): 177-187.

9. Referans9. Sim, Yirong, et al. "Medullary thyroid carcinoma in ethnic Chinese with MEN2A: a case report and literature review." Journal of pediatric surgery 48.1 (2013): e43-e46.
10. Referans10. Raue, F., et al. "Primary hyperparathyroidism in multiple endocrine neoplasia type 2A." Journal of internal medicine 238.4 (1995): 369-373.
11. Referans11. Larsen, Louise Vølund, et al. "Primary hyperparathyroidism as first manifestation in multiple endocrine neoplasia type 2A: an international multicenter study." Endocrine connections 9.6 (2020): 489.
12. Referans12. M. Shindo, Intraoperative rapid parathyroid hormone monitoring in parathyroid surgery, Otolaryngol Clin North Am (2004)
13. Referans13. Holm, Magnus, et al. "Primary Hyperparathyroidism in Multiple Endocrine Neoplasia Type 2A in Denmark: A Nationwide Population-Based Retrospective Study in Denmark 1930–2021." Cancers 15.7 (2023): 2125.