Maru Y, Tachikawa K, Hiraiwa N, Ogino Y, Shishiba Y, Watanabe G, Nakazawa H, Tsurumaru M, Akiyama H, Matsushita H
Nihon Naibunpi Gakkai Zasshi. 1985 Sep 20;61(9):872-81. doi: 10.1507/endocrine1927.61.9_872.
A family of multiple endocrine neoplasia type I with five confirmed cases in three generations is described. All of them have primary hyperparathyroidism in common. The propositus is 51 year-old male. After a year of symptoms of gastroduodenal ulcer, he was found to have elevated levels of serum gastrin and PTH. The serial imaging studies revealed a tumor in pancreatic head, and Zollinger-Ellison syndrome was diagnosed. The gastrin level was reduced into normal range after extirpation of the tumor, but post surgical elevation of Calcium put the patient under parathyroidectomy, which normalized serum PTH and Calcium levels. His two sisters (I and II), the mother of them, and the daughter of sister I, had neither signs nor symptoms until family study showed hypercalcemia in all. Sister I is a 54 year-old female with enlarged parathyroid. The hyperparathyroidism is of chemical type, but no other endocrinological abnormality is found. The Calcium level decreased after parathyroidectomy. Sister II is a 56 year-old female. The only sign was galactorrhea. Serum PTH and Calcium decreased after parathyroidectomy. The prolactinoma was diagnosed by the increased prolactin levels and enhanced mass lesion in sella turcica. Her serum prolactin levels is now within normal range since she is on bromocryptine. The mother of the above three siblings and the daughter of the sister I are now under further study.
本文描述了一个三代内有五例确诊病例的多发性内分泌腺瘤病I型家族。他们都患有原发性甲状旁腺功能亢进症。先证者是一名51岁男性。在出现胃十二指肠溃疡症状一年后,他被发现血清胃泌素和甲状旁腺激素水平升高。一系列影像学检查显示胰头有肿瘤,诊断为佐林格-埃利森综合征。肿瘤切除后胃泌素水平降至正常范围,但术后血钙升高使患者接受了甲状旁腺切除术,血清甲状旁腺激素和血钙水平恢复正常。他的两个姐妹(I和II)、她们的母亲以及姐妹I的女儿,在家族研究显示所有人都有高钙血症之前没有任何体征或症状。姐妹I是一名54岁女性,甲状旁腺肿大。甲状旁腺功能亢进为化学性,但未发现其他内分泌异常。甲状旁腺切除术后血钙水平下降。姐妹II是一名56岁女性。唯一的体征是溢乳。甲状旁腺切除术后血清甲状旁腺激素和血钙下降。根据催乳素水平升高和蝶鞍内肿块病变增强诊断为催乳素瘤。自从她服用溴隐亭后,她的血清催乳素水平现在处于正常范围内。上述三兄弟姐妹的母亲和姐妹I的女儿目前正在进一步研究中。