An infant with 46,XY karyotype, and unambiguous female phenotype was found to have testes in the inguinal regions. Capillary sequencing of the androgen receptor (AR) gene identified a hemizygous de novo mutation (NM_000044.6:c.1621G > T) in exon 2 resulting in a termination codon p.(Glu541*) at the DNA binding domain (DBD). This novel nonsense mutation adds to the compendium of AR mutations which result in complete androgen insensitivity syndrome (AIS).

中文翻译：

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性别逆转的 46,XY 婴儿中的一种新的从头雄激素受体无义突变

发现一名具有 46,XY 核型和明确女性表型的婴儿在腹股沟区域有睾丸。雄激素受体 ( AR ) 基因的毛细管测序鉴定了外显子 2 中的半合子从头突变 (NM_000044.6:c.1621G > T)，导致 DNA 结合结构域 (DBD) 出现终止密码子 p.(Glu541*)。这种新的无义突变增加了导致完全雄激素不敏感综合征 (AIS)的AR突变的概要。