Noonan综合征临床特征分析:附2例病例报告  

Clinical characteristics of Noonan syndrome-2 case reports

作　　者：王伟[1] 王春庆[2] 殷华 田秦杰[2] 

机构地区：[1]胜利油田中心医院,东营257034 [2]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 [3]山东省烟台市芝罘区妇幼保健院,烟台264000

出　　处：《生殖医学杂志》2015年第5期348-352,共5页Journal of Reproductive Medicine

摘　　要：目的总结Noonan综合征患者的临床特征,探讨其诊断、鉴别诊断及治疗。方法分析北京协和医院妇产科门诊诊治的2例散发Noonan综合征病例。结果患者的共同特征为身材矮小伴原发性闭经,有典型的特纳(Turner)综合征面容,青春期女性第二性征发育不佳,内外生殖器发育幼稚,人工周期可来月经,外周血染色体核型为46,XX。结论及时正确诊断Noonan综合征十分重要,其与Turner综合征的重要鉴别点是前者具有正常的46,XX核型。Objective： To summarize the clinical characteristics and explore the diagnosis, differential diagnosis and management of Noonan syndrome. Methods： The data of two patients with Noonan syndrome were reported and analyzed. Results ： Both patients had typical Turner＇ s facial characteristics, short statures,primary amenorrhea, absent or poorly developed secondary sexual characteristics at puberty with underdeveloped external and internal genitalia. Menstruation could be induced by sequential administration of estrogen and progesterone. Their karyotype was 46,XX. Conclusions： Early correct diagnosis of Noonan syndrome is very important. It should be differentiated with Turner syndrome with the key point of the normal karyotype of 46, XX in Noonan syndrome.

关 键 词：NOONAN综合征 身材矮小 TURNER综合征 

分 类 号：R[医药卫生]