Sie befinden Sich nicht im Netzwerk der Universität Paderborn. Der Zugriff auf elektronische Ressourcen ist gegebenenfalls nur via VPN oder Shibboleth (DFN-AAI) möglich. mehr Informationen...
Disorders of sex differentiation: genes responsible for development of genital system and final phenotype
Ist Teil von
Ceská gynekologie, 2009-06, Vol.74 (3), p.192
Ort / Verlag
Czech Republic
Erscheinungsjahr
2009
Link zum Volltext
Quelle
MEDLINE
Beschreibungen/Notizen
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.
Review article.
Department of Pediatrics, University Hospital Motol and 2nd Faculty of Medicine, Charles University in Prague.
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.
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.