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妊娠型多发性内分泌腺瘤 2A 患者的嗜铬细胞瘤和甲状腺髓样癌。

Pheochromocytoma and medullary thyroid carcinoma in a pregnant multiple endocrine neoplasia-2A patient.

机构信息

Department of Endocrinology, Seth G S Medical College and KEM Hospital, Mumbai, Maharashtra, India.

出版信息

Gynecol Endocrinol. 2011 Aug;27(8):533-5. doi: 10.3109/09513590.2010.507285. Epub 2010 Jul 30.

Abstract

OBJECTIVE

We describe a rare combination of pheochromocytoma and medullary thyroid carcinoma (MTC) during pregnancy.

METHODS

Twenty-three-years old lady, primigravida, was detected to be hypertensive at 12 weeks of gestation and was found to have left adrenal mass on routine obstetric scan. She had a goitre on examination which was proven to be MTC on fine needle aspiration cytology. Twenty-four hours urinary vanillyl mandelic acid and serum calcitonin levels were elevated. After adequate α and β blockade she underwent left adrenalectomy during second trimester of gestation with no significant perioperative complications. Twelve days later she underwent total thyroidectomy.

RESULTS

Adrenal mass was confirmed to be pheochromocytoma while MTC was confirmed in the thyroidectomy specimen. Post-operatively, she was normotensive and delivered a healthy female baby at term. Both mother and the baby tested positive for germline RET mutation (C634W) in exon 11.

CONCLUSION

We describe a rare case of pregnant multiple endocrine neoplasia-2A patient with pheochromocytoma and MTC.

摘要

目的

我们描述了妊娠期间罕见的嗜铬细胞瘤和甲状腺髓样癌(MTC)合并病例。

方法

一位 23 岁的初产妇,在妊娠 12 周时被发现患有高血压,并在常规产科超声检查中发现左肾上腺肿块。她有甲状腺肿,细针穿刺细胞学检查证实为 MTC。24 小时尿香草扁桃酸和血清降钙素水平升高。在充分的α和β阻断后,她在妊娠中期行左肾上腺切除术,无明显围手术期并发症。12 天后,她行甲状腺全切除术。

结果

肾上腺肿块被证实为嗜铬细胞瘤,而 MTC 在甲状腺切除术标本中得到证实。术后,她血压正常,并足月产下一名健康女婴。母亲和婴儿均在第 11 外显子上携带种系 RET 突变(C634W)。

结论

我们描述了一例罕见的妊娠多发性内分泌腺瘤-2A 患者合并嗜铬细胞瘤和 MTC。

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