Report identifies a novel AR mutation in CAIS patients, highlighting the importance of comprehensive care strategies.
A novel AR frameshift mutation (c.2023_2035del) was identified in a 17‐year‐old phenotypic female with Complete Androgen Insensitivity Syndrome (CAIS). This report emphasizes the necessity of molecular characterization and multidisciplinary management to address diagnosis, surgical timing, and psychological well‐being in disorder of sex development (DSD) patients.
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Francesca et al. (2026) studied this question.
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