摘要
性发育异常(DSD)是一组反映在人类性染色体核型、性腺表型及性激素性别不一致的先天性疾病.根据染色体核型可将DSD分为三大类:46,XX DSD、46,XY DSD和性染色体异常DSD.其中46,XY DSD的发病原因和临床表现复杂多样,尤其是儿童期易漏诊、误诊,若不及时诊治可能会给患儿及其家庭带来深远影响.本文报道1例13岁46,XYDSD患儿,以身材矮小就诊.辅助检查发现黄体生成素、卵泡刺激素异常升高,子宫附件超声提示始基子宫,无月经来潮;完善染色体核型检查后,最终诊断为46,XY DSD.经过心理疏导、长效重组人生长激素及中药等治疗后,实现身高追赶,计划择时进行激素替代治疗.结合案例复习相关文献并进行总结,以加深儿科医师对矮身材合并性发育异常患儿病因的认识,对46,XY DSD患儿进行规范合理诊疗,以免误诊、漏诊.
Abstract
Disorders of sex development(DSD)is a set of congenital diseases reflected in human sex chromosome karyotype,gonadal phenotype,and sex hormone gender inconsistency.According to chromosome karyotypes,DSD can be divided into three categories:46,XX DSD,46,XY DSD,and sex chromosome abnormal DSD.Among them,the pathogenesis and clinical manifestations of 46,XY DSD are complex and diverse,especially in childhood,which is easy to be missed and misdiagnosed.If not diagnosed and treated in time,it may bring profound impact to children and their families.This article reports a 13-year-old child with 46,XY DSD who was diagnosed with short stature.The auxiliary examinations revealed abnormal elevation of luteinizing hormone and follicle stimulating hormone,and ultrasound of the uterine adnexa suggested basal uterus without menarche,after completing chromosome karyotyping examination,the final diagnosis of 46,XY DSD was made.After psychological counseling,long-term recombinant human growth hormone,and traditional Chinese medicine treatment,height catch-up was achieved,and hormone replacement therapy was planned at an appropriate time.Relevant literature was reviewed and summarized in combination with cases,so as to deepen pediatricians'understanding of the etiology of children with short stature complicated with disorders of sex development,and to conduct standardized and reasonable diagnosis and treatment for children with 46,XY DSD,so as to avoid misdiagnosis and missed diagnosis.
基金项目
湖北省中医药重点学科建设项目(中医儿科学)(鄂中医通[2023]2号)
NETL
NSTL
万方数据