Complete androgen insensitivity syndrome(CAIS)is one of the most common disorders of sex development,and is an X-linked recessive disorder,mainly caused by mutations in the androgen receptor gene.The clinical manifestations are 46,XY chromosome karyotype,and female external genitalia,and the patients often presented with infantile inguinal mass and primary amenorrhea in puberty.They have endocrine features of persistent androgen resistance.Children with CAIS are mostly raised as females,and the clinical management of CAIS centers on the timing of gonadectomy,which is still controversial.Clinical guidelines recommend delaying gonadectomy until after puberty to ensure normal pubertal growth and development.Postoperative estrogen replacement therapy and psychotherapy are also important aspects of comprehensive multidisciplinary treatment.In this article,we review four aspects of CAIS:pathogenesis,clinical features,diagnosis,and treatment,in order to further improve clinicians'understanding of the disease.
关键词
完全型雄激素不敏感综合征/性发育异常/AR基因/性腺切除
Key words
Complete androgen insensitivity syndrome/Disorders of sex development/AR gene/Gonadectomy
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