Li Xueyan,Yin Xiaoming,Liu Xin,et al.Clinical analysis and genetic screening of 41 children with 46,XY DSD[J].Journal of Clinical Pediatric Surgery,,18():184-190.[doi:10.3969/j.issn.1671-6353.2019.03.005]
Clinical analysis and genetic screening of 41 children with 46,XY DSD
- Keywords:
- Gonadal Dysgenesis; 46; XY/Embryo; Genes/Genetics; Genetic Screening
- CLC:
- R726.9;R691.1;R393
- Abstract:
- Objective To explore the clinical presentations,diagnosis and therapy for 46,XY disorders of development (DSD).Methods A retrospective study was performed for 41 hospitalized 46,XY DSD patients from September 2011 to November 2018.Their clinical data were analyzed.And the relevant genes were sequenced for detecting gene mutations.Results Among them,the dominant social gender was male (n=28,68.3%) and female (n=13,31.7%).The initial diagnostic age was from 3 months to 15 years.Three major categories of external genitalias were ambiguous (n=21),male (n=17) and female (n=3).In 8 patients,open or laparoscopic exploration was performed with gonadal biopsy for histological evaluations.In another 35 patients,human chorionic gonadotropin (HCG) stimulation test was performed for assessing testicular functions.Gene analyses were performed in 23 patients.There were gonadal dysgenesis (n=17),disorders of androgen synthesis plus androgen insensitivity syndrome (n=16),persistent müllerian duct syndrome (n=6) and Kallmann syndrome (n=2).The procedures included gonadectomy (n=6),external genital plastic surgery (n=10) and orchiopexy (n=11).After operation,the outcomes were reassigned gender of rearing (n=2),sex non-selection (n=10) and original gender (n=29).Conclusion Heterogeneity exists in clinical phenotypes of children diagnosed as 46,XY DSD.Genetic testing is required for a definite diagnosis of this disease,except for children with gonadal dysgenesis and vanishing testes syndrome.Gender assignment is crucial in the treatment of 46,XY DSD.It is necessary to choose carefully after comprehensive evaluations.For those without remarkable disorder of testis function,it is wiser to let the child participate in sex selection and avoid irreversible gonadectomy and genital surgery.
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Memo
收稿日期:2018-12-23。
基金项目:国家自然基金面上项目（编号：81571514）
通讯作者:杨屹,Email:yangy2@sj-hospital.org