完全型雄激素不敏感综合征2例临床特点及处理

Clinical Characteristics and Management of 2 Cases of Complete Androgen Insensitivity Syndrome

雄激素不敏感综合征(androgen insensitivity syndrome,AIS)又称为睾丸女性化综合征(testicular feminization syndrome,TFS),是一种X连锁遗传病,是男性假两性畸形中较常见的类型,可分为完全型AIS和不完全型AIS,其原因主要是雄激素受体(androgen receptor,AR)基因的突变导致其对雄激素产生抵抗和不应答。本文回顾南京医科大学附属妇产医院2例CAIS患者的临床资料及诊疗过程,以期能进一步提高对该病的认知及诊治水平。

Androgen insensitivity syndrome(AIS), also known as testicular feminization syndrome, is an X-linked genetic disease. AIS is a common type of male pseudohermaphroditism. It can be divided into complete AIS and incomplete AIS. The main reason is that the mutations of androgen receptor gene lead to androgen resistance and non-response. The clinical data, diagnosis and treatment of two patients with CAIS in our hospital are reviewed in order to further improve the cognition, diagnosis and treatment of the disease.