32例XO/XY性腺发育不全临床特点分析  

Clinical Features of 32 Patients with XO/XY Gonadal Dysgenesis

作　　者：蒋建发[1] 田秦杰[1] 薛薇[1] 邓燕[1] 郑婷萍[1] 孙爱军[1] 

机构地区：[1]中国医学科学院北京协和医学院北京协和医院妇产科,北京100730

出　　处：《中国医学科学院学报》2016年第4期411-414,共4页Acta Academiae Medicinae Sinicae

摘　　要：目的探讨XO/XY性腺发育不全的临床特点,以提高其临床认识及诊治。方法回顾性分析2008年1月至2015年5月北京协和医院收治的XO/XY性腺发育不全患者的临床资料。结果 32例患者社会性别均为女性,年龄6～33岁,主要以无自主月经或身材矮小就诊。平均身高（144.54±13.90）cm,多伴有特纳综合征典型体征。患者中27例（84.38%）乳房发育未达Ⅲ级、28例（87.5%）腋毛稀疏或无、26例（81.25%）阴毛稀疏或无、18例（56.25%）外阴发育幼稚、5例（15.63%）阴蒂增大。卵泡刺激素平均为（78.56±35.62）m IU/ml,黄体生成素为（20.23±11.35）m IU/ml,雌二醇为（9.94±8.21）pg/ml,睾酮为（0.24±0.18）ng/ml。所有患者均行性腺切除术,病理提示性腺分化形式多样,其中4例发生肿瘤。结论 XO/XY性腺发育不全主要表现为原发闭经或身材矮小,第二性征发育差,促性腺激素水平升高,性腺有恶变风险。Objective To summarize the clinical features of XO/XY gonadal dysgenesis. Method We retrospectively analyzed the clinical data of patients with XO/XY gonadal dysgenesis admitted to Peking Union Medical College Hospital from January 2008 to May 2015. Results Totally 32 patients with XO/XY gonadal dysgenesis were included. The social gender was female in all subjects and the age 6 to 33 years. Patients presented mainly with primary amenorrhea or short stature,and usually had specific somatic signs of Turner ＇s syndrome. The breast development of 27 patients（ 84. 38%） was less than level Ⅲ. The armpit hair was sparse or absent in 28 patients（ 87. 5%） and the pubic hair was sparse or absent in 26 patients（ 81. 25%）. Other findings include naive vulva（ n = 18,56. 25%）） and enlarged clitoris（ n = 5,15. 63%）. The average level of follicle stimulating hormone was（ 78. 56 ± 35. 62） m IU/ml,the luteinizing hormone level was（ 20. 23 ± 11. 35）m IU/ml,the estradiol level was（ 9. 94 ± 8. 21） pg/ml,and the testosterone level was（ 0. 24 ± 0. 18） ng/ml.All patients received prophylactic gonadectomy. The histopathology results showed a variety of gonads,and gonadal malignancy were observed in 4 patients. Conclusions Patients with XO/XY gonadal dysgenesis manifest primary amenorrhea or short stature,poorly developed secondary sexual characteristics,and elevated gonadotropin level. The gonads have increased risk of gonadal malignancy.

关 键 词：性腺发育不全 45 X/46 XY 临床特点 

分 类 号：R711.1[医药卫生—妇产科学]