A de novo frameshift mutation of the SRY gene leading to a patient with 46,XY complete gonadal dysgenesis
作者机构：Department of AndrologyCenter for Men's HealthInstitute of UrologyUrologic Medical CenterShanghai General HospitalShanghai 200080China Shanghai Key Laboratory of Reproductive MedicineDepartment of HistoembryologyGenetics and Developmental BiologyShanghai Jiao Tong University School of MedicineShanghai 200025China Department of Gynecology and ObstetricsChangxing Maternity and Child Health Care HospitalHuzhou 313199China
出 版 物：《Asian Journal of Andrology》 (亚洲男性学杂志（英文版）)
年 卷 期：2019年第21卷第5期
页 面：522-524页
核心收录：
学科分类：0202[经济学-应用经济学] 02[经济学] 020205[经济学-产业经济学]
基 金：This work is supported by the National Key Research and Development Program(Grand No.2017YFC1002003) the National High-tech Research and Development Program(863)of China(Grand No.2015AA020404) the National Natural Science Foundation of China(Grand No.81771637,81571488) the Frontier Technology Project of Shanghai(Grand No.SHDC12015122)
摘 要：Dear Editor,Sex in mammals is genetically determined and defined at the cellular level by the sex chromosome constitution(XY males and XX females)and at the phenotypic level by the development of genderspecific anatomy,physiology,and behavior.146,XY complete gonadal dysgenesis(46,XY CGD),first reported by Swyer in 1955,^2 is a rare congenital condition with completely or partially disordered gonadal development,leading to discordance between the genetic,gonadal,and phenotypic *** patients have a 46,XY karyotype,a female phenotype,normal female external genitalia,and CGD(streak gonads)without sperm production and follicular or steroid function.
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