Shepherd J J
Department of Surgery, University of Tasmania, Hobart, Australia.
Arch Surg. 1991 Aug;126(8):935-52. doi: 10.1001/archsurg.1991.01410320017001.
Among 2000 descendants of an English immigrant to Tasmania, Australia, the diagnosis of multiple endocrine neoplasia type 1 was found to be very highly probable or highly probable in 130 and moderately probable in 22. Another 242 children and siblings were 50% likely to have inherited this dominant gene. In all age groups, especially the elderly, the majority of affected members had symptoms of only one endocrine disorder or were asymptomatic. In teenagers, the most common presentation was pituitary lesions and the second most common presentation was insulinomas. Frequently, pituitary lesions or insulinomas developed before any parathyroid lesions could be detected. Elevation of gastrin levels, usually associated with hypercalcemia, was rarely seen in patients younger than 25 years. The classic presentation with symptoms of multiple endocrinopathy may represent only a small fraction of these patients in the community.
在澳大利亚塔斯马尼亚岛的一位英国移民的2000名后代中，发现130人患1型多发性内分泌腺瘤病的可能性非常高或很高，22人可能性中等。另有242名儿童和兄弟姐妹有50%的可能遗传了这种显性基因。在所有年龄组中，尤其是老年人，大多数受影响成员仅有一种内分泌紊乱症状或无症状。在青少年中，最常见的表现是垂体病变，第二常见的表现是胰岛素瘤。垂体病变或胰岛素瘤通常在检测到甲状旁腺病变之前就已出现。胃泌素水平升高通常与高钙血症有关，在25岁以下的患者中很少见。具有多种内分泌病症状的典型表现可能仅占该社区这些患者的一小部分。
