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題名 | Partial Androgen Insensitivity Syndrome with R840H Mutation in Androgen Receptor: Report of One Case=雄性素受體R840H點突變導致部份雄性素不敏感症:一例報告 |
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作者 | 顏瑞龍; 張光慧; 許錦城; 李燕晉; 蔡立平; Yen, Jui-lung; Chang, Kuang-Huey; Sheu, Jin-cherng; Lee, Yann-jinn; Tsai, Li-ping; |
期刊 | 臺灣兒科醫學會雜誌 |
出版日期 | 20050300、20050400 |
卷期 | 46:2 民94.03-04 |
頁次 | 頁101-105+122 |
分類號 | 417.133 |
語文 | eng |
關鍵詞 | 性徵分化不明; 雄性素受器; 部分雄性素不敏感反應症; 分子遺傳學檢查; Ambiguous genitalia; Androgen receptor; Partial androgen insensitivity syndrome; Molecular analysis; |
英文摘要 | Androgen insensitivity syndrome (AIS) is the major cause of male pseudohermaphroditism. The severity of the disorders varies widely, ranging from the phenotypic women with female external genitalia in cases of complete AIS to the phenotype of ambiguous genitalia in partial androgen insensitivity syndrome (PAIS) and a rare group of phenotypic normal males with azoospermia. Here, we report an infant of PAIS with a missense mutation at position 2881 (G→A) in exon 7, encoding substitution of histidine for arginine at codon 840 of the androgen receptor (AR) gene. Both the biochemical and molecular studies are presented. Establishing the diagnosis of PAIS is very important for gender assignment to an infant of ambiguous genitalia. The molecular analysis will facilitate genetic counselling to the maternal side relatives for carrier detection and prenatal diagnosis. |
本系統之摘要資訊系依該期刊論文摘要之資訊為主。