A Novel Androgen Receptor Gene Mutation in a 46,XY Patient: Complete Androgen Insensitivity Syndrome

    August 2015 in “ AACE Clinical Case Reports ”
    Hale Tuhan, Ayhan Abacı, Ayça Aykut … Ece Böber
    Studysummary This case report identifies a novel AR gene mutation in an adolescent with primary amenorrhea, suggesting that CAIS should be considered when evaluating patients with a female phenotype and breast development.
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