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, Ahmet Anık, Hüseyin Önay, Ece Böber

androgen receptor androgen insensitivity syndrome complete androgen insensitivity syndrome AR gene mutation 46,XY disorders of sex development

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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