Androgen insensitivity syndrome

After reviewing the mechanisms of androgen action, we will look at the main clinical features of androgen insensitivity. The diagnosis of CAIS arises usually at puberty, when normal breast development contrasts with absence of pubic and axillary hair, along with primary amenorrhea. In our experience, primary amenorrhea represents the main reason for medical consultation. Inguinal hernia is the second cause for referral, while in some CAIS population it can raise to 57% of CAIS. The diagnosis of CAIS can also raise, because of a mismatch between the prenatal male sex, based on karyotype analysis, and the female phenotype from fetal ultrasound / scan. We discuss the cellular and molecular tools used to investigate the AR. Numerous AR mutations have been described over the past 30 years. We will consider the challenges for diagnosis and prognosis by examining the genotype–phenotype relationship and the possibility of somatic mutations. Finally, we will address the role of genetic counseling and the elements that should be taken into account for the difficult decision of sex assignment in children affected with AIS.