What does PGD mean in BRITISH MEDICINE

PGD stands for partial gonadal dysgenesis. It is a disorder that is primarily found in individuals with an X and Y chromosome, otherwise known as a 46,XY karyotype. It is characterized by underdeveloped gonads located at the abdomen that do not function properly.

The cause of PGD is unknown but it can be associated with mosaic deletion or mutation of some genes on the X or Y chromosomes. In rare cases it may also be caused by a mutation in one of the autosomal chromosomes other than the sex chromosomes.

People with PGD can experience difficulties such as infertility due to their underdeveloped gonads which are unable to produce functional gametes (sperm or eggs). As well as this, people with PGD can also experience hormone imbalances due to lack of hormones produced by their gonads such as testosterone and estrogen in males and females respectively. This can lead to further physical problems like delayed puberty and increased risk for certain types of cancer if left untreated.

To diagnose PDG, medical professionals typically perform chromosomal tests along with genetic tests and imaging tests such as ultrasound or MRI scans in order to evaluate how well developed the gonads are.