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Author

Tess I. Jewell

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Case report Open access Sep 2026

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...

Kim Vidmar, Tess I. Jewell, Kim M. Keppler-Noreuil · 0 citations

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