关键词: 性腺发育不全, 46,XY, 性发育, 遗传性疾病, 先天性, 基因, 突变

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.

Key words: Gonadal dysgenesis, 46, XY, Sexual development, Genetic diseases, inborn, Genes, Mutation