Yen Jui-Lung, Chang Kuang-Huey, Sheu Jin-Cherng, Lee Yann-Jinn, Tsai Li-Ping
Department of Pediatrics, Women's and Children's Hospital, Taipei City, Taiwan.
Acta Paediatr Taiwan. 2005 Mar-Apr;46(2):101-5.
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.
雄激素不敏感综合征（AIS）是男性假两性畸形的主要原因。该疾病的严重程度差异很大，从完全性AIS患者表现为具有女性外生殖器的女性表型，到部分雄激素不敏感综合征（PAIS）患者表现为生殖器模糊的表型，以及罕见的具有无精子症的表型正常男性。在此，我们报告一名PAIS婴儿，其雄激素受体（AR）基因第7外显子第2881位（G→A）发生错义突变，导致第840密码子的精氨酸被组氨酸替代。本文同时展示了生化和分子研究结果。对于生殖器模糊的婴儿进行性别判定，明确PAIS诊断非常重要。分子分析将有助于为母系亲属进行遗传咨询，以检测携带者并进行产前诊断。
