Dal Jakob, Gaustadnes Mette, Kristensen Kurt, Gravholt Claus H, Jørgensen Jens Otto L
Medicinsk Endokrinologisk Afdeling, Aarhus Universitetshospital, Nørrebrogade 44, 8000 Aarhus C.
Ugeskr Laeger. 2014 Jan 6;176(1):54-7.
Mutations in the aryl hydrocarbon receptor interaction protein gene (AIP) occur in familial pituitary adenomas as an autosomal dominant inheritance with a 15-30% penetrance. The AIP mutation-associated pituitary adenomas are generally large, the onset of disease is early and treatment failure frequent. Genetic screening is also offered in Denmark and enables the detection of mutation carriers, and thus early diagnosis and treatment. Mutations have been recorded among Danish patients and their families.
芳烃受体相互作用蛋白基因（AIP）的突变发生在家族性垂体腺瘤中，呈常染色体显性遗传，外显率为15%-30%。AIP突变相关的垂体腺瘤通常体积较大，发病早且治疗失败率高。丹麦也提供基因筛查，能够检测出突变携带者，从而实现早期诊断和治疗。丹麦患者及其家族中已记录到相关突变。
