Genetic etiology of 46, XY complete gonadal dysgenesis / 国际儿科学杂志

ABSTRACT

46,XY complete gonadal dysgenesis (46,XY CGD) is a rare congenital genetic disease.Individuals with 46,XY CGD are characterized by female external genitalia,Müllerian duct structures and streak gonads.The pathogenesis of this disease is complex,which is related to the variation of sex determination genes in humans.In addition to the classic genes SRY,SOX9 and NR5A1,it has been found that the disease can be caused by the signal pathways such as DHH and MAPK,as well as other regulatory factors such as ubiquitination in recent years.However,only less than 50％ of patients receive an accurate clinical genetic diagnosis.Facilitated by ongoing developments in genetic sequencing technologies,more and more potential pathogenic genes have been discovered,enriching the gene regulatory network of sex determination.The proper and prompt diagnosis and treatment of 46,XY CGD are always challenging,given the low rate of diagnosis and the risk of gonadal malignancy,which are imperative for long-term management of the individuals.Recently,great progress has been made in the study of 46,XY CGD both at home and abroad.