56例46,XY单纯性腺发育不全临床特点分析

Clinical characteristics analysis of 56 patients with 46,XY Pure gonadal dysgenesis

目的:探讨46,XY单纯性腺发育不全患者的临床特点,以进一步提高对该病的认知与诊治水平。方法:回顾分析2007年1月至2015年3月北京协和医院妇产科收治的56例46,XY单纯性腺发育不全且行腹腔镜下性腺切除术患者的临床资料。结果:所有患者的社会性别均为女性,平均年龄(21.1±5.2)岁。53例(94.64%)患者以无自主月经来潮就诊。51例(91.07%)患者乳房发育在Ⅲ级以下,53例(94.64%)患者腋毛稀疏或无,48例(85.72%)患者阴毛稀疏或无。47例(83.93%)患者外阴发育幼稚,3例(5.36%)患者阴蒂稍大。患者促性腺激素水平升高,雌二醇及睾酮处于低水平。术中所有患者均可见子宫,8例患者输卵管发育不良,余48例输卵管发育正常;性腺外观绝大部分为条索状。病理提示,12例(21.43%)患者合并性腺肿瘤。结论:46,XY单纯性腺发育不全具有较典型的临床特点,及时明确诊断并尽早行性腺切除以防性腺恶变具有重要的临床意义。

Objective： To analyze the clinical features of 46,XY pure gonadal dysgenesis and to increase the knowledge of this disease. Method： We retrospectively analyzed the clinical datas of 56 patients with 46,XY pure gonadal dysgenesis adimitted to Peking Union Medical College Hospital from Jan. 2007 to Mar. 2015. Result： Their social gender were all female and the mean age at diagnosis was（ 21. 1 ± 5. 2） years. 53 cases（ 94. 64%） presented with primary amenorrhea. The breast development of 51 patients（ 91. 07%） was less than level Ⅲ.The armpit hair of 53 patients（ 94. 64%） was sparse or absent and the pubic hair of 48 cases（ 85. 72%） was sparse or absent. 47 patients（ 83. 93%） have naive vulva and 5 cases have enlarged colitoris. The gonadotropin level of all the patients was elevated and the level of estradiol and testosterone were decreased. Uterus was founded in the pelvic of all the patiens and most oviducts were normal. The histopathology results showed that gonadal malignancy were observed in 12 patients（ 21. 43%）. Conclusion： 46,XY pure gonadal dysgenesis have specific clinical features. It is important to diagnosis in time and to resect the underdeveloped gonad.