What is Gonadal Mosaicism?

Gonadal Mosaicism
Intra-abdominal testis. A rare case of mixed gonadal dysgenesis with mosaicism 45, X/46, X, +mar. Soheilipour F, Abed O, Behnam B, Abdolhosseini M, Alibeigi P, Pazouki A - International journal of surgery case reports (2014). Not Altered. CC.

Gonadal mosaicism is a type of genetic mosaicism where more than one set of genetic information is found specifically within the gamete cells.

What is the Pathology of Gonadal Mosaicism?

The pathology of gonadal mosaicism is:

-Etiology: The cause of gonadal mosaicism is either a mutation that occurs after conception, or epigenetic regulation that alters DNA methylation.

-Genes involved: None.

-Pathogenesis: The sequence of events that lead to gonadal mosaicism may be autosomal or germline mosaicism.

How does Gonadal Mosaicism Present?

Depends on the disease.

How is Gonadal Mosaicism Diagnosed?

Gonadal mosaicism is diagnosed by minimally invasive procedures, such as blood sampling or amniotic fluid sampling. Genetic testing on collected samples may be helpful.

How is Gonadal Mosaicism Treated?

Depends on the disease.

What is the Prognosis of Gonadal Mosaicism?

Depends on the disease.