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 anatom...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 sex.Affected 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.展开更多
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)+1 种基金the National Natural Science Foundation of China(Grand No.81771637,81571488)the Frontier Technology Project of Shanghai(Grand No.SHDC12015122)
文摘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 sex.Affected 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.
