Mixed gonadal dysgenesis

Last revised by Craig Hacking on 13 Oct 2022

Mixed gonadal dysgenesis (MGD) is a type of gonadal dysgenesis characterized by gonadal asymmetry, and/or sex chromosomal mosaicism, as well as retained Müllerian ducts.

Depending on the chromosomal composition, patients may have testes and/or streak gonads.

  • affected individuals are often 45XO/46XY

The absence of a second X chromosome may lead to the formation of a streak ovary in which the dysgenetic testis may invoke formation of hilar and medullary cords.

Neoplastic transformation may result from unprotected germ cells and abnormally high and prolonged gonadotropin stimulation with the risk exceeding 50% as the third decade is approached. These include: 

ADVERTISEMENT: Supporters see fewer/no ads

Updating… Please wait.

 Unable to process the form. Check for errors and try again.

 Thank you for updating your details.