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伴有垂体腺瘤的家族性肢端肥大症。三名患病同胞的报告。

Familial acromegaly with pituitary adenoma. Report of three affected siblings.

作者信息

Abbassioun K, Fatourehchi V, Amirjamshidi A, Meibodi N A

出版信息

J Neurosurg. 1986 Mar;64(3):510-2. doi: 10.3171/jns.1986.64.3.0510.

DOI:10.3171/jns.1986.64.3.0510
PMID:3950729
Abstract

The authors report the cases of three brothers with pituitary adenomas who had classical findings of acromegaly and gigantism. Two had irreducibly elevated growth hormone (GH) values and underwent transsphenoidal microsurgical extirpation of their tumors. The third acromegalic brother had a normal GH value and evidence of panhypopituitarism; he had a small intrasellar tumor and a partially empty sella. The pattern of inheritance was probably autosomal recessive. A review of literature indicated that familial incidence of isolated acromegaly with pituitary adenomas is rare.

摘要

作者报告了三兄弟患垂体腺瘤的病例,他们均有肢端肥大症和巨人症的典型表现。其中两人生长激素(GH)值持续升高,接受了经蝶窦显微手术切除肿瘤。第三个肢端肥大症兄弟的GH值正常,但有全垂体功能减退的证据;他有一个小的鞍内肿瘤和部分空蝶鞍。遗传模式可能为常染色体隐性遗传。文献回顾表明,孤立性肢端肥大症伴垂体腺瘤的家族发病率很低。

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J Neurosurg. 1986 Mar;64(3):510-2. doi: 10.3171/jns.1986.64.3.0510.
2
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引用本文的文献

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Familial isolated pituitary adenomas (FIPA) and the pituitary adenoma predisposition due to mutations in the aryl hydrocarbon receptor interacting protein (AIP) gene.家族性孤立性垂体腺瘤(FIPA)和由于芳香烃受体相互作用蛋白(AIP)基因突变引起的垂体腺瘤易感性。
Endocr Rev. 2013 Apr;34(2):239-77. doi: 10.1210/er.2012-1013. Epub 2013 Jan 31.
2
Isolated familial somatotropinoma.孤立性家族性生长激素瘤
Pituitary. 2004;7(2):95-101. doi: 10.1007/s11102-005-0-04-0.
3
Isolated familial somatotropinomas: clinical features and analysis of the MEN1 gene.
散发性家族性生长激素瘤:临床特征及MEN1基因分析
Pituitary. 2002 Jan;5(1):11-5. doi: 10.1023/a:1022193015993.
4
Familial acromegaly: case report and review of the literature.家族性肢端肥大症:病例报告及文献综述
Pituitary. 1999 May;1(3-4):273-7. doi: 10.1023/a:1009958510378.