CAJ | 학술논문

目的分析5例45,X/46,XY嵌合型患儿临床特征,探讨合理有效的治疗方案.方法本院5例45,X/46,XY嵌合型患儿,3例社会性别为女性,2例为男性,均处于青春发育年龄.测量身高、体重、第二性征及性腺发育状况;检测性激素水平及其他内分泌学相关指标,行性腺影像及盆腔探查.结果 5例45,X/46,XY嵌合型患儿均表现为性发育障碍.其中4例有不同程度的身材矮小,身高标准差积分为-2.8±1.1;实验室检查提示4例患儿为高促性腺激素性腺功能减退,黄体生成素(基)为(13.5±5.8)IU/L,卵泡刺激素(基)为(56.8 ±37.4)IU/L;性腺影像学检查示2例隐睾,1例幼稚子宫,1例睾丸形态较小,睾丸组织活检示发育不良,1例睾丸发育尚可.3例试行重组人生长激素治疗,1例现考虑进行性别转换.结论 45,X/46,XY嵌合型患儿临床表现为性发育障碍和(或)身材矮小,但性发育障碍可表现多样.应针对患儿自身特点,多科间协作制定个体化的治疗方案.
목적 분석5례45,X/46,XY감합형환인림상특정,탐토합리유효적치료방안.방법 본원5례45,X/46,XY감합형환인,3례사회성별위녀성,2례위남성,균처우청춘발육년령.측량신고、체중、제이성정급성선발육상황;검측성격소수평급기타내분비학상관지표,행성선영상급분강탐사.결과 5례45,X/46,XY감합형환인균표현위성발육장애.기중4례유불동정도적신재왜소,신고표준차적분위-2.8±1.1;실험실검사제시4례환인위고촉성선격소성선공능감퇴,황체생성소(기)위(13.5±5.8)IU/L,란포자격소(기)위(56.8 ±37.4)IU/L;성선영상학검사시2례은고,1례유치자궁,1례고환형태교소,고환조직활검시발육불량,1례고환발육상가.3례시행중조인생장격소치료,1례현고필진행성별전환.결론 45,X/46,XY감합형환인림상표현위성발육장애화(혹)신재왜소,단성발육장애가표현다양.응침대환인자신특점,다과간협작제정개체화적치료방안.
Objective To analyze clinical characteristics of children with 45,X/46,XY mosaicism and explore effective managements for them.Method Five children with 45,X/46,XY mosaicism were all in puberty period,of whom,three were female and two male.The standing height,weight and sexual development were measured.The levels of sex hormones,other endocrine parameters were also determined,and imaging examinations were performed.Result All the patients had disorders of sex development,of whom.4 had short stature,and the HtSDs was -2.8±1.1.The results of laboratory indexes suggested that 4 had hypergonadotropic hypogonadism,with the average level of LH(1 3.5±5.8)IU/L and FSH(56.8±37.4)IU/L.Imaging examinations revealed that 2 cases had eryptorchidism,1 had immature uterus,1 had testicular dysgenesis and 1 had normal testis.Three patients received rhGH treatment and 1 took gender assignment into account.Conclusion Patients with mosaic 45,X/46,XY karyotypes had a wide range of phenotypic manifestations.and disorders of sex development and short stature were the main clinical features.However,the disorders of sex development varied among these patients.And the managenlent for them depends upon many factors and needs to be individualized based on the cooperation with different clinical departments.