Research Progress in Genetic Etiology of 46, XY Female Disorder of Sex Development
LIU He
WU Qing-hua
SHI Hui-rong
Abstract：46, XY female disorder of sex development (46, XY DSD), a rare genetic disease, includes two subtypes according to its possible mechanism: gonadal dysgenesis and androgen synthesis defect or dysfunction according to its possible mechanisms. The genetic background is complex, in which a variety of genetic factors are involved. The gonadal dysgenesis is related to many genes such as SRY, WT1, SF1, SOX9, DAX-1 or DMRT1. Gene mutations in other genes such as CYP17A1 and SRD5A2 may cause abnormal enzymes involved in androgen synthesis. Androgen dysfunction is mainly associated with the AR gene. Clinical manifestations are heterogeneous, including complete gonadal dysgenesis, partial gonadal dysgenesis and testicular degeneration syndrome. Early detection and clearing the etiology are essential for treatment options, prognosis and genetic counseling. Here, the possible causative genes and clinical manifestations are reviewed.
Keywords：Gonadal dysgenesis46XYSexual developmentGenetic diseasesinbornGenesMutation
Publication Date：2017-01-01
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：6( 492-497 )