Androgen insensitivity syndrome (AIS) is a 46, XY disorder of sex development (DSD), and characterized by a female phenotype associated with complete or partial resistance to the effects of androgens. We experienced two cases of complete AIS (CAIS), with different outcomes. The typical presentation of CAIS is primary amenorrhea. Prophylactic gonadectomy is indicated because of the risk of gonadal germ cell tumor. In case one, the patient was diagnosed with CAIS because of the lack of menarche, and prophylactic gonadectomy was performed in early adulthood. In the case two patient, Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome was suspected, because she presented with amenorrhea in puberty. When she developed abdominal distension in adolescence, ovarian cancer was suspected, and a surgery was performed. The findings of a pathological examination led to the diagnosis of AIS. In the differential diagnosis of CAIS, attention should be particularly focused on MRKH syndrome because of its frequency. Primary amenorrhea, absence of the uterus, and a vagina with a blind end are present in both MRKH syndrome and CAIS. However, CAIS differs in that it does not involve an organ of Müllerian origin, though patients with MRKH syndrome show normal ovaries and traces of the uterus. These features are not helpful in distinguishing between both syndromes because the testes can be misidentified as the ovaries, as seen in case two. Growth of underarm hair and pubic hair, hormone levels, and imaging findings should be taken into consideration for a comprehensive judgment. CAIS is a rare disorder; however, its incidence is high in girls with inguinal hernias. The prevalence of CAIS in girls with inguinal hernias is 1.1%, which is more than 40 times the natural incidence. AIS should be suspected in patients with primary amenorrhea and a history of inguinal hernias. Recognition of DSD has increased after the Chicago consensus on DSD, and clinical guidelines have been developed in several western countries. DSD should be managed by a multidisciplinary team (MDT), comprising experts in various fields, mainly endocrine internal medicine, urology, obstetrics and gynecology, and psychiatry, if necessary; moreover, the MDT should include clinical psychologists, neonatologists, clinical geneticists, biochemists, experts in medical ethics, and experts in welfare. MDTsare widespread in Europe and the United States. However, in Japan, it is still under the formative stage and requires immediate attention. [Adv Obstet Gynecol, 68 (1) : 20-28, 2016 (H28.2)]
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