经蝶窦手术治疗家族性肢端肥大症

Surgical treatment of familial acromegaly

作者报告一组家族性孤立型肢端肥大症（ｉｓｏｌａｔｅｄｆａｍｉｌｉａｌａｃｒｏｍｅｇａｌｙ）的表兄妹３人，都具有典型的临床表现和内分泌学、影像学和病理学改变，均接受经口鼻蝶窦垂体生长激素腺瘤全切除而治愈。谱系调查涉及此家族４代６５人，无近亲婚配和类似患者，提示为常染色体不规则显性遗传。此症手术治疗效果良好。

AbstractThe annual incidence of the acromegaly is threecases per million and that of the familial acromegaly iseven far rarer. The number of familial acromegaly re-ported in the medical literature of all the world is fewerthan 10 cases per year,and up till now none of such apatient has been reported in China.All the three casesof familial acromegaly reported here were from thesame family, and shovved typical clinical manifesta-tions. They presented the history of acral enlarge-ment, headach, amenorrhoea,elevated serum GHlevel, enlargement and erosion of pituitary fossa in X-ray and CT scan, and characteristic immunohis-tochemical findings of GH-secreting pituitary adenoma. All of them underwent successful transsphynoidal totalremoval of the pituitary adenoma,and recovered wellby clinical, endocrine,and pathological criteria. Anextended family tree of 65 members excluded consan-guinous marriage and suggested that the mode of inher-itance was irregular autosomal dominant.