Infertility associated with DSD

Some children who grow up as a healthy girl or boy are later found to be infertile. On investigating the cause of infertility, it is occasionally found that an anatomically male person is XX, or an anatomically female person is XY. In some of these cases there is a functional change in SRY or one of the other genes that are pivotal for making testes or ovaries, so these conditions are referred to as 46,XX or 46,XY gonadal dysgenesis, respectively. Sex reversal in the form of complete 46,XX or 46,XY gonadal dysgenesis is relatively rare, and thought to occur in about 1 in 20,000 people.


Because this website deals primarily with variations of sex development that have a genetic basis and are detected in the newborn period, 46,XX and 46,XY gonadal dysgenesis are not dealt with further here.



Last updated: 27 October 2013

Edit history: Author P. Koopman 9/12; revised PK 3/13, 5/13, 7/13