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Complete androgen insensitivity without Wolffian duct development: the AR‐A form of the androgen receptor is not sufficient for male genital development

Background  The androgen receptor (AR) is essential for the differentiation of male external and internal genitalia. It is normally present in two forms, a full‐length form B and an N‐terminal truncated form A with still unknown function. Mutations in the AR gene cause androgen insensitivity syndrome (AIS), which is divided into subgroups according to the degree of undermasculinization. Patients with completely female external genitalia are classified as complete AIS (CAIS). However, a recent study has shown that some CAIS patients have signs of internal male genital differentiation due to missense mutations that show some degree of residual function.