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A 19-year-old female visited our hospital because of primary amenorrhea. She was genetically (46XY) male. Her breasts were poorly developed. She had no pubic or axillary hair. The phenotype was female, and the vagina had a short and closed end. Plasma testosterone (T) and 5-alpha dihydrotestosterone (DTH) were low. However, DHT was elevated by ex vivo T load. The testis, which was atropic, epididymis and vas deferens, which were well developed, were found and resected by operation. The amount of androgen receptors of the skin tissue of the external genitalia was normal. These findings suggested that male pseudohermaphroditism with incomplete testicular feminization syndrome may have been caused by androgen resistance syndrome due to the disorder of androgen receptor complex, genetic information or post receptor.
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