Abstract
The authors present the case of a multiplex endocrine neoplasia type 2A (MEN2A). The 55-year-old woman underwent detailed examinations for abdominal complaints. Bilateral adrenal masses and thyroid nodular goiter were found. Based on metanephrine excretion and MIBG imaging, bilateral phaeochromocytomas were diagnosed. The thyroid nodules were confirmed by thyroidectomy as bilateral medullary thyroid carcinoma. Asymptomatic primary hyperparathyroidism was also detected. Laparoscopic adrenalectomy and parathyroid adenoma removal were performed. Based on family history and the characteristic clinical presentation, MEN2A syndrome was confirmed by genetic testing. During genetic screening of first-degree relatives, the patient's 25-year-old daughter was shown to be a gene carrier. Preventive thyroidectomy was performed and histology proved multifocal medullary thyroid cancer. In addition to the importance of genetic testing, the authors emphasize the guideline-based, but individualized approach to patients with suspected MEN2A syndrome. Orv Hetil. 2020; 161(2): 75-79.
Highlights
The authors present the case of a multiplex endocrine neoplasia type 2A (MEN2A)
The thyroid nodules were confirmed by thyroidectomy as bilateral medullary thyroid carcinoma
Based on family history and the characteristic clinical presentation, MEN2A syndrome was confirmed by genetic testing
Summary
The authors present the case of a multiplex endocrine neoplasia type 2A (MEN2A). The 55-year-old woman under went detailed examinations for abdominal complaints. Kulcsszavak: medullaris pajzsmirigydaganat, phaeochromocytoma, primer hyperparathyreosis, 2A típusú multiplex endokrin neoplasia szindróma, genetikai vizsgálat ABPM = (ambulatory blood pressure monitoring) 24 órás vér nyomás-monitorozás; CEA = carcinoembrionalis antigén; CgA = (chromogranin A) kromogranin-A; CT = komputertomográ fia; FMTC = (familial medullary thyroid carcinoma) familiaris medullaris pajzsmirigy-carcinoma; MEN2A = multiplex en dokrin neoplasia-2A; MIBI-mellékpajzsmirigyszcintigráfia = 99mtechnécium-metoxi-izobutil-izonitril izotóp segítségével végzett képalkotó eljárás; MIBG-szcintigráfia = 131jód-meta- jodo-benzil-guanidin izotóp segítségével végzett képalkotó eljárás; PET-CT = CT-vel kombinált pozitronemissziós tomo gráfia; PTH = parathormon; tCa = (total calcium) teljes kalci um; UH = ultrahang
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