Kim M. Keppler-Noreuil

Persistent Müllerian structures in an infant with complete androgen insensitivity syndrome

Abstract Complete androgen insensitivity syndrome (CAIS) is a variation in sex characteristics that occurs due to a pathogenic loss-of-function variant in the androgen receptor gene. CAIS classically presents as an individual with 46,XY karyotype, apparent female external genitalia, a blind-ending vaginal pouch, intern...