Mixed gonadal dysgenesis
Mixed gonadal dysgenesis (MGD) is a type of gonadal dysgenesis characterised 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:
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