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首页> 外文期刊>Endocrine Research >Cortisol producing adrenal adenoma--a new manifestation of Gardner's syndrome.
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Cortisol producing adrenal adenoma--a new manifestation of Gardner's syndrome.

机译：皮质醇产生的肾上腺腺瘤-Gardner综合征的新表现。

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INTRODUCTION: Familial adenomatous polyposis (FAP) is an autosomal dominant disorder which typically presents with colorectal cancer in early adult life secondary to extensive adenomatous polyps of the colon. Gardner's syndrome is a variant of FAP in which desmoid tumors, osteomas and pigmented retinal lesions occur together with intestinal manifestations. The APC gene (adenomatous polyposis coli) at 5q21 is a tumor suppressor gene which is mutant in FAP. PATIENT: A 36 year old woman presented with a history of polyposis ventriculi, ovarian desmoid cysts, and disseminated desmoid tumors. Her familial history was unremarkable. On admission she complained weight gain, secondary amenorrhea, and episodes of hypertension followed by paroxysmal headache. RESULTS: Elevated urinary free cortisol (878 microg/24h), suppressed basal ACTH (< 5 pg/ml) and insuppressible serum cortisol after low dose dexamethasone (189 ng/ml) revealed adrenal Cushing's syndrome. Abdominal NMR showed an adrenal mass two centimeter in diameter with inhomogeneous contrast enhancement. Unilateral adrenalectomy was performed and an adrenal adenoma was diagnosed by histological criteria. For mutational detection DNA from peripheral blood leucocytes was extracted. A protein truncation test was performed, which revealed a termination mutation between codon 1099 and 1623 of the APC gene. Direct sequencing showed a point mutation in exon 15 of the APC gene at position 1542 (CAG --> TAG). This region is known to be altered in patients with extraintestinal manifestation of FAP. CONCLUSION: In patients with Gardner's syndrome adrenal tumors leading to hormonal excess should be considered. Whether mutations in the APC gene have implications in sporadic adrenal tumorigenesis needs to be proven.
机译：简介：家族性腺瘤性息肉病（FAP）是一种常染色体显性遗传疾病，通常在成年早期因结肠广泛性腺瘤性息肉继发于大肠癌。 Gardner综合征是FAP的一种变体，其中，皮肤样瘤，骨瘤和色素沉着的视网膜病变与肠道表现同时发生。 5q21处的APC基因（大肠息肉病大肠埃希菌）是在FAP中突变的抑癌基因。患者：一名36岁的女性，具有脑息肉病，卵巢类囊肿和弥漫性类瘤病史。她的家族史不多。入院时，她主诉体重增加，继发性闭经和高血压发作以及阵发性头痛。结果：低剂量地塞米松（189 ng / ml）显示出肾上腺库欣综合征后，尿液游离皮质醇升高（878微克/ 24小时），基础促肾上腺皮质激素（<5 pg / ml）受到抑制，血清皮质醇水平下降。腹部核磁共振显示肾上腺肿块直径为2厘米，对比度增强不均匀。进行单侧肾上腺切除术，并根据组织学标准诊断为肾上腺腺瘤。为了进行突变检测，从外周血白细胞中提取DNA。进行了蛋白质截断测试，该测试揭示了APC基因的1099密码子和1623密码子之间的终止突变。直接测序显示APC基因第15外显子在位置1542发生点突变（CAG-> TAG）。已知该区域在具有FAP肠外表现的患者中发生了改变。结论：加德纳综合征患者应考虑肾上腺肿瘤导致荷尔蒙过量。 APC基因突变是否对散发性肾上腺肿瘤发生有影响，尚待证实。

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