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49例患者的雄激素不敏感:基于临床和雄激素受体表型的分类

Androgen insensitivity in forty-nine patients: classification based on clinical and androgen receptor phenotypes.

作者信息

Hughes I A, Evans B A

机构信息

Department of Child Health, University of Wales College of Medicine, Cardiff, UK.

出版信息

Horm Res. 1987;28(1):25-9. doi: 10.1159/000180921.

DOI:10.1159/000180921
PMID:3447937
Abstract

Androgen receptor binding was studied in genital skin fibroblasts from 49 patients with androgen insensitivity syndrome (AIS) classified as complete (CAIS) or partial (PAIS) based on the clinical phenotype. The majority (64%) of CAIS and a minority (7%) of PAIS patients were receptor negative. Only 3 receptor-positive AIS cell strains of 30 studied failed to show an increase in specific receptor binding after prolonged androgen exposure in vitro. The gene coding for the androgen receptor in such patients appears intact.

摘要

基于临床表型,对49例雄激素不敏感综合征(AIS)患者的生殖器皮肤成纤维细胞进行了雄激素受体结合研究,这些患者分为完全型(CAIS)或部分型(PAIS)。大多数(64%)CAIS患者和少数(7%)PAIS患者受体呈阴性。在研究的30株受体阳性AIS细胞系中,只有3株在体外长时间暴露于雄激素后未显示特异性受体结合增加。此类患者中编码雄激素受体的基因似乎完整无损。

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引用本文的文献

1
Androgen insensitivity syndrome.雄激素不敏感综合征
Arch Dis Child. 1993 Mar;68(3):343-4. doi: 10.1136/adc.68.3.343.
2
Phenotypic variation and detection of carrier status in the partial androgen insensitivity syndrome.部分雄激素不敏感综合征的表型变异及携带者状态检测
Arch Dis Child. 1993 Apr;68(4):453-7. doi: 10.1136/adc.68.4.453.
3
Mutations of the androgen receptor gene identified in perineal hypospadias.在会阴型尿道下裂中鉴定出的雄激素受体基因突变。
J Med Genet. 1993 Mar;30(3):198-201. doi: 10.1136/jmg.30.3.198.
4
Point mutation in the DNA binding domain of the androgen receptor in two families with Reifenstein syndrome.两个患有赖芬斯坦综合征的家族中雄激素受体DNA结合域的点突变。
Am J Hum Genet. 1992 Jun;50(6):1318-27.