[Disorders of sex differentiation: genes responsible for development of genital system and final phenotype].

OBJECTIVE

The study summarizes data on genes responsible for development of gonads and subsequently of additional structures of genital system in humans. It comprises the effect of gene defects on clinical phenotype.

SUBJECT: Review article.

SETTING

Department of Pediatrics, University Hospital Motol and 2nd Faculty of Medicine, Charles University in Prague.

SUBJECT AND METHOD: We present the overview of genes that contribute to development of genital system. Special emphasis is given on patient's phenotype related with various genetic disorders. Data were mainly found on Pubmed or OMIM web-sites according to key words "sex development" and "sex determination". We focused on ten genes with known relation to gonadal development--SRY, SOX9, SF1, DAX1, WNT4, WT1, DMRT1, DHH, RSPO1, ATRX.

CONCLUSION

Sex development is a complex process orchestrated by numerous genes. Here we collect information on gene defect (gene mutations or defective number of gene copies) that cause gonadal maldevelopment with effects on final phenotype. Currently, genetic background of numerous disorders can be detected. That allows not only to verify the diagnosis but also to predict the future sexual development and genetic risk for other family members.