Familial Acromegaly: Case Report and Review of the Literature

被引：45
|
作者：
Alain Verloes
Achille Stevenaert
Bin Tean Teh
Patrick Petrossians
Albert Beckers
机构：
[1] Wallonia Centre for human Genetics,Department of Neurosurgery and Department of Molecular Medecine
[2] Liège University,Department of Endocrinology
[3] Sart Tilman University Hospital,undefined
[4] Karolinska hospital,undefined
[5] Sart Tilman University Hospital,undefined
来源：
Pituitary | 1999年 / 1卷 / 3-4期
关键词：
acromegaly; familial acromegaly; chromophobe tumor; MEN1;
D O I：
10.1023/A:1009958510378
中图分类号：
学科分类号：
摘要：
Familial acromegaly is an exceptional clinical entity when not associated with features of multiple endocrine neoplasia type 1 (MEN1). We report here 3 pedigrees in each of which 2 patients have been shown to develop acromegaly. In 5/6 patients, clinical follow-up, and biological screening allowed to confidently exclude MEN1. Absence of mutation in the MEN1 gene after direct DNA analysis in 2 pedigrees reinforces the conviction that the families do not have MEN1. In families 1 and 2, diagnosis
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页码：273 / 277
页数：4
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