Abstract

We presented a case with complete androgen insensitivity syndrome. The patient had secondary amenorrhea. Physical examination found ambiguous external genitalia, bilateral gynecomastia, no axillary hair or pubic hair. Lab workup found hyperandrogenism and 46XY karyotype. Ultrasound failed to find uterus but hypoecho on both sides of pelvic cavity. A homozygous missense mutation of T572C in exon 2 of androgen receptor gene was identified in this patient. (Chin J Endocrinol Metab, 2016, 32: 781-783) Key words: Androgen insensitivity syndrome; Male pseudohermaphroditism; Androgen receptor gene mutation

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