Diagnosis and treatment experience of a case of"girl"with 46 XY disorder of sex development and literature review
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.
Disorders of sex developmentShort statureHuman growth hormoneTraditional Chinese medicine therapy
NETL
NSTL
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