A de novo frameshift mutation of the SRY gene leading to a patient with 46,XY complete gonadal dysgenesis

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 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.