R831X mutation of the androgen receptor gene in an adolescent with Complete Androgen Insensitivity Syndrome and bilateral testicular hamartomata

Dimitrios G. Goulis, Paschalia K. Iliadou, Athanasios Papanicolaou, Ioannis Georgiou, Anthi Chatzikyriakidou, Spiridon Gerou, Ioannis N. Bontis, Ioannis Papadimas

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An 18-year old, phenotypically female individual was examined for primary amenorrhea. Three months before her referral, the patient underwent surgery and a pelvic mass was removed. The physical examination revealed normal female external genitalia, normal breast developĀ­ment, sparse pubic hair and absence of axillary hair…