Infertility associated with DSD

Occasionally it is found that a person's genetic or chromosomal sex does not match their biological sex. For example, an anatomically male person may be found to be XX, or an anatomically female person found to be 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.

Of course, thre are many other causes of infertility that are unrelated to 46,XX or 46,XY gonadal dysgenesis. Likewise, this website is not the forum for dealing with teh topic of infertility and its causes more broadly.



Last updated: 7 August 2021 PK

Edit history: Author P. Koopman 9/2012; revised PK 3/2013, 5/2013, 7/2013, 10/2013