Recurrence of phaeochromocytoma in pregnancy in a patient with multiple endocrine neoplasia 2A: a case report and review of literature

Abstract

Multiple endocrine neoplasia type 2A (MEN 2A) is an autosomal dominant inherited condition with a prevalence of one in 40 000 individuals. It causes the development of tumours in endocrine glands, such as medullary thyroid cancer, pheochromocytomas, as well as primary hyperparathyroidism. MEN 2A in pregnancy is very rare with only 29 cases reported in the literature. The presence of pheochromocytoma is a rare cause of hypertension during pregnancy with an incidence of 0.007% of all pregnancies. This has severe implications on both mother and the foetus. This case report describes a 22-year-old nulliparous Caucasian woman with known MEN2A syndrome, who underwent thyroidectomy for medullary thyroid carcinoma in childhood and excision of left sided pheochromocytoma at the age of 19. She was found to have a recurrence of pheochromocytoma in the right adrenal gland during pregnancy at 16 weeks of gestation and was oddly normotensive. Catecholamine effects were blocked with phenoxybenzamine and she delivered by an uneventful elective caesarean section at 36 weeks gestation. She underwent a laparoscopic right adrenalectomy six weeks postpartum, followed by lifelong corticosteroid replacement.

Chinese abstract

多发性内分泌腺瘤2A型(MEN2A)是常染色体显性遗传病, 发病率为1/40000。它会引起内分泌腺肿瘤的发生, 如甲状腺髓样癌、嗜铬细胞瘤以及原发性甲状旁腺功能亢进症。文献报道MEN2A患者怀孕几率很低, 文献报道仅29例。嗜铬细胞瘤是妊娠期高血压罕见病因, 发生率为所有妊娠妇女的0.007%, 但对母胎均有严重影响。该病例报道描述了一例22岁患MEN2A 未生育的白种人, 她在儿童时期因甲状腺髓样行甲状腺切除术, 在19岁时接受了左侧嗜铬细胞瘤切除。在妊娠16周时发现右肾上腺嗜铬细胞瘤复发, 但血压正常。盐酸酚苄明阻断了儿茶酚胺的作用, 36周时她通过剖宫产分娩。产后6周该患者通过腹腔镜手术切除右肾上腺, 之后终身行皮质类固醇激素替代治疗。

Keywords:

• Multiple endocrine neoplasia
• pregnancy
• phenoxybenzamine
• pheochromocytoma

Declaration of interest

The authors report no conflicts of interest.