Causes And Risk Factors Of Aarskog Syndrome

Gender

As stated, the gender of the baby as well as of the parent who carries the gene are important when determining the odds of passing down a mutation. Aarskog syndrome, in addition to other diseases passed through the X chromosome, is more common in males. This is because males only posses a single X chromosome, inherited through the mother, while the Y chromosome is inherited through the father.

A male child of a woman who carries this genetic defect is thus at a much higher risk of developing Aarskog syndrome. Females, however, possess two X chromosomes: one from the father and one from the mother. As such, if one of their X chromosomes carries the genetic defect, they have the other one to compensate, which explains why females typically present with much milder symptoms when they do have Aarskog syndrome.

Genetic Makeup

A child's genetic makeup is passed down entirely from their parents, and it is the main factor that increases the likelihood of being born with Aarskog syndrome. Children whose mothers have the condition are much more likely to develop the rare disorder, and there is no way to prevent its development. However, women who wish to have children do have the option to undergo genetic testing, which will be able to confirm the presence of the mutated FGD1 gene, which then enables women to weigh the risks and make an educated decision when choosing whether or not to have children.