先天性无睾畸形3例临床诊治经验  

Congenital anorchism:clinical diagnoses and treatments of 3 cases

作　　者：王军[1] 王鹏 程银涛[1] 张亚伟 马慧 杨禄红[3] 李爽[1] Wang Jun;Wang Peng;Cheng Yintao;Zhang Yawei;Ma Hui;Yang Luhong;Li Shuang(Department of Urological Surgery,Wuhan Children's Hospital,Tongji Medical College,Huazhong University of Science&Technology,Wuhan 430016,China;Departmnet of General Surgery,Xianning First Municipal People's Hospital,Xianning 437000,China;Departmnet of Endocrine,Wuhan Children's Hospital,Tongji Medical College,Huazhong University of Science&Technology,Wuhan 430016,China)

机构地区：[1]华中科技大学同济医学院附属武汉儿童医院泌尿外科,武汉430016 [2]咸宁市第一人民医院普外科,咸宁437000 [3]华中科技大学同济医学院附属武汉儿童医院内分泌科,武汉430016

出　　处：《中华小儿外科杂志》2024年第1期53-56,共4页Chinese Journal of Pediatric Surgery

基　　金：武汉市卫生计生委科研项目(WX14C51)。

摘　　要：目的总结小儿先天性无睾畸形的临床特点,探讨此类疾病的临床诊断及治疗方法。方法回顾性分析2011年5月至2022年2月华中科技大学同济医学院附属武汉儿童医院收治的3例先天性无睾畸形患儿的临床资料,3例患儿分别于3岁1个月、1岁9个月、3岁10个月时行腹腔镜腹内性腺探查+腹股沟区睾丸探查术。所有患儿均行外周血染色体核型检查、性激素水平检查、血清抗苗勒管激素测定、抑制素B测定及人绒毛膜促性腺激素激发试验。3例患儿术后随访21个月至11年。结果3例患儿术中探查发现腹腔内无睾丸组织,双内环口已闭合,双侧精索血管及输精管走行正常,阴囊内无睾丸组织。患儿染色体核型均为46,XY。3例患儿卵泡刺激素分别为10.49 U/L、8.02 U/L、6.87 U/L,高于正常水平范围,其余五项性激素水平大致在正常参考范围内。3例患儿抗苗勒管激素均为0.04 ng/ml,人绒毛膜促性腺激素激发试验ΔT均<1 ng/ml,抑制素B分别为11.1 ng/L、10.8 ng/L、12.3 ng/L,均低于正常参考范围。随访至14岁的患儿1在青春期之前的身高、体重及阴茎发育与正常同龄儿比较无明显差异,但14岁时仍无第二性征发育,遂给予内分泌专科治疗。随访至4岁4个月的患儿和随访至5岁6个月的患儿身高及体重与同龄健康儿比较差异无统计学意义,目前门诊定期复诊,未行特殊干预措施。结论当体格检查及超声检查在双侧阴囊及腹股沟区未能发现睾丸时,诊断应警惕先天性无睾畸形,同时应与睾丸发育不全、性别发育异常等疾病相鉴别。术前的充分评估、适当的外科手术探查及青春期内分泌干预是诊治此类疾病的关键。Objective To explore the clinical characteristics,diagnoses and treatments of congenital anorchism(CA)in childhood.Methods From May 2011 to February 2022,retrospective analyses were performed for the relevant clinical data of three hospitalized CA children undergoing laparoscopic intra-abdominal gonadal exploration plus testicular exploration in inguinal region.The operative ages were 37,21 and 46 months respectively.Peripheral blood karyotyping,sex hormone panel,serum anti-Mullerian hormone assay,inhibin B assay and human chorionic gonadotropin stimulation test were performed.Results Intraoperative exploration revealed no testicular tissue in abdominal cavity.Double internal ring orifices were closed.Bilateral spermatic vessels and vas deferens aligned normally and no testicular tissue was found in scrotum.The karotypes of 3 cases were 46,XY.The level of follicle stimulating hormone was 10.49,8.02 and 6.87 U/L respectively,all above a normal range.Another five sex hormones were within normal reference ranges.Anti-Müllerian tube hormone was 0.04 ng/ml andΔT of human chorionic gonadotropin provocation test was<1 ng/ml.And inhibin B was 11.1,10.8 and 12.3 ng/L respectively,all below a normal reference range.One child followed until an age of 14 years(case 1)had no significant difference in height,weight or penile development from normal children of the same age before puberty.At an age of 14 years,there was still had no development of secondary sexual characteristics and he was referred to an endocrine specialist.Another two children followed until 52 and 48 months(case 2/3)showed no difference in height or weight from counterparts of the same age.Both were regularly followed up at an outpatient clinic without any special intervention.Conclusions If no testes are found in bilateral scrotum and inguinal region on non-surgical examination,the diagnosis of CA should be considered.It should be differentiated from testicular hypoplasia and sex dysgenesis.An early definite diagnosis,appropriate endocrine therapy and su

关 键 词：隐睾 无睾畸形 诊断 儿童 

分 类 号：R726.9[医药卫生—儿科]