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Within each category, the type of gonadal tissue is specified as testicular, ovarian, ovotesticular, or dysgenetic (streak).

The types of gonadal dysgenesis include complete, partial, and mixed.

The dosage-dependence of genes involved in gonadal development is a recurrent theme, and genetic changes in promoter and repressor regions are being revealed by chromosomal microarray analysis and other techniques.However, genetic diagnosis of mutations affecting early gonadal development is becoming increasingly accessible to clinicians.More powerful genetic techniques are allowing for interrogation of the entire genome for causative changes and it is important to be able to critically assess the flood of genetic data for meaningful information.to either the X chromosome or an autosome account for the majority of 46, XX testicular DSD, whereas inactivating mutations account for 10 to 15% of 46, XY DSD with gonadal dysgenesis (Cameron and Sinclair, 1997).Although and chromosomal deletions resulting in haploinsufficiency for the gene cause campomelic dysplasia with XY DSD and multiple other syndromic features, a disorder that is often lethal in infancy (Cameron and Sinclair, 1997; Foster, 1999).

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