Article Sections

Introduction

Androgen insensitivity syndrome (AIS) is a rare, X-linked recessive disorder of sex development caused by defective androgen receptors.  Patients with complete AIS have a 46,XY genotype yet have a female phenotype (ie, female external genitalia, breast development) despite the presence of testes and male-range androgen production ( Figure 1).

Pathogenesis

Testosterone and dihydrotestosterone (DHT) normally interact with androgen receptors in target tissues to induce androgenic effects (ie, virilization).

AIS, an X-linked recessive disorder, is caused by loss-of-function mutations in the androgen receptor gene on the X chromosome.  These mutations lead to a lack of response to androgens, resulting in abnormal sexual development (ie, undervirilization) beginning in utero:

Development of internal genitalia
  • 46,XY patients with AIS have an intact

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