mixed gonadal dysgenesis

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.

Pathology

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

Genetics

• affected individuals are often 45XO/46XY

Associations

• Denys-Drash syndrome

Complications

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:

• gonadoblastoma
• seminoma/dysgerminoma

See also

• disorders of gender development

Siehe auch:

• Seminom
• gonadal dysgenesis
• drash syndrome
• dysgerminoma
• Störungen der geschlechtsspezifischen Entwicklung
• Mosaik (Genetik)

und weiter:

• disorder of sex development