Differences of sex development (DSDs) occur when sex development does not follow the course of typical male or female patterning. DSDs can be caused by a wide range of genetic abnormalities. Determining the etiology of an individual's DSD can assist in can help identify potential health problems such as adrenal crisis or gonadoblastoma.
The 46,XX Differences of Sex Development/Complete Gonadal Dysgenesis (46,XX DSD/CGD) Panel includes genes associated with differences of sex development (DSD) or complete gonadal dysgenesis (CGD) in individuals with a 46,XX karyotype. A range of phenotypes may be observed in individuals with 46,XX DSD/CGD, from mullerian aplasia and hyperandrogenism or ovarian dysgenesis, to adrenal hyperplasia with overvirilization. There are syndromic forms of 46,XX DSDs, including Peters-Plus syndrome. 46,XX complete gonadal dysgenesis may be observed in individuals with presence of the SRY gene, in individuals with copy number variations in SOX3, or due to pathogenic variants in other genes, such as RSPO1. Please note that due to the presence of a pseudogene, the CYP21A2 gene is not included on this panel. This panel includes sequence and deletion/duplication analysis of the listed genes.
