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雄激素不敏感综合征是一种性连锁遗传性疾病。患者临床上以不同程度女性化表现,而血中雄激素处于正常生理水平为其特征。目前已发现有3种原因可致本病的发生:(1)受雄激素作用的靶器官组织其特异性的受体缺乏或数量的减少与临床表现轻重有明显相关性;(2)雄激素受体功能的改变,主要反应在雄激素与受体的结合障碍;(3)5α还原酶的缺乏,由于此酶活性障碍影响T向DHT的转化。实验室检查可发现LH和E_2的升高,得无T和FSH的明显改变,明确诊断需依靠雄激素的测定。
Androgen insensitivity syndrome is a sex-linked genetic disease. Patients with varying degrees of clinical feminine performance, and blood levels of androgen at normal physiological level as its characteristics. It has been found that there are three causes of this disease can occur: (1) the role of androgen-targeted target organ-specific receptor deficiency or decrease in the number of patients with significant clinical manifestations were significantly correlated; (2) androgen Receptor function changes, the main reaction in androgen and receptor binding disorders; (3) the lack of 5α-reductase, as a result of this enzyme activity affect the conversion of T to DHT. Laboratory tests can be found LH and E 2 increased, no significant changes in T and FSH, a clear diagnosis depends on the determination of androgen.