因多发腺瘤导致的家族性孤立性甲状旁腺功能亢进，与骨化性颌骨纤维瘤和多发性子宫腺肌病性息肉相关。

Familial isolated hyperparathyroidism due to multiple adenomas associated with ossifying jaw fibroma and multiple uterine adenomyomatous polyps.

作者信息

Fujikawa M, Okamura K, Sato K, Mizokami T, Tamaki K, Yanagida T, Fujishima M

机构信息

Second Department of Internal Medicine, Kyushu University, Fukuoka, Fukuoka City, Japan.

出版信息

Eur J Endocrinol. 1998 May;138(5):557-61. doi: 10.1530/eje.0.1380557.

DOI:10.1530/eje.0.1380557

PMID:9625369

Abstract

We describe three siblings with hyperparathyroidism due to multiple parathyroid adenomas without evidence of other endocrinological abnormalities. A 22-year-old woman had two parathyroid adenomas complicated by multiple ossifying jaw fibromas. Her sister, aged 29, also suffered from primary hyperparathyroidism associated with two parathyroid adenomas one of which was also suspected to be a carcinoma. These two female patients had unusual multiple small uterine polyps, which were diagnosed as adenomyomatous polyps. Their brother, aged 17, had two parathyroid adenomas complicated by urolithiasis. These three patients are characterized by young adult-onset familial isolated hyperparathyroidism due to multiple adenomas with various complications including ossifying jaw fibroma and uterine adenomyomatous polyps. These clinical features are different from those of familial hyperparathyroidism associated with multiple endocrine neoplasia.

摘要

我们描述了三名因多发性甲状旁腺腺瘤而患有甲状旁腺功能亢进症的兄弟姐妹，且无其他内分泌异常的证据。一名22岁女性患有两个甲状旁腺腺瘤，并伴有多发性骨化性颌骨纤维瘤。她29岁的姐姐也患有原发性甲状旁腺功能亢进症，伴有两个甲状旁腺腺瘤，其中一个还疑似为癌。这两名女性患者有不寻常的多发性小子宫息肉，被诊断为腺肌瘤性息肉。她们17岁的弟弟有两个甲状旁腺腺瘤，并伴有尿路结石。这三名患者的特征为青年期发病的家族性孤立性甲状旁腺功能亢进症，病因是多发性腺瘤，并伴有各种并发症，包括骨化性颌骨纤维瘤和子宫腺肌瘤性息肉。这些临床特征与伴有多发性内分泌腺瘤病的家族性甲状旁腺功能亢进症不同。