1例完全性雄激素不敏感综合征患者的临床诊治及分子遗传学分析

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ABSTRACT： ObjectiveTo explore the clinical and molecular genetic characteristics of complete androgen insensitivity syndrom（CAIS）caused by androgen receptor（AR）gene mutations.MethodsThe clinical phenotype and postoperative gonadal pathological characteristicsof afemale XYpatient withachromosomalkaryotypeof46wereanalyzed，and full IDT testing Was performedResultsThe patient had female appearance with underdeveloped vagina，butno normaluterine tisue wasfoundonimagingexamination．The pathological findingsof gonadal tisue showed testicular tisue，including some spermaticcords.The AR gene was located on chromosomechrX：66931243 exhibiting splicing site variation，and the variation site was c.1886-1G>A（ 一）. Conclusion The clinical manifestations of androgen insensitivity syndrome are diverse，and AR deficiency isoneof the importantcauses.This case study summarizes theclinical diagnosisand treatment principlesof CAIS and analyzes the molecular genetic.

KEY WORDS：complete androgen insensitivity syndrome;androgen receptor；gene mutation； disorders of sex development

摘要：目的探讨由雄激素受体（AR）基因突变所致完全性雄激素不敏感综合征（CAIS）患者的临床特征及分子遗传学特征。（剩余7517字）