What Are the Probable Causes of Swyer Syndrome?

Swyers syndrome is a rare genetic disease that causes an individual to have female genitals yet has XY as their sex determining chromosomes. Mutation of a single gene or genes is known to be the probable cause of this syndrome. Genes are a sequence of DNA that determines a character or trait in the body, including the gender differences. Mutation of the genes also leads to the improper formation of the reproductive system.

Causes of Swyers Syndrome

Swyers syndrome is characterised by the failure of the sex gonads and is classified as a disorder of sex development (DSD). Some of the probable causes are mentioned below:

Mutation in the SRY gene

In 15% of victims of this syndrome, mutation of SRY gene has been discovered. Mutation leads to the production of a non-functional protein which leads to the development of gonads in place of ovaries.
Mutations in the MAP3K1 gene

18% of the affected individuals possess the mutated MPA3K1 gene. This gene prompts the body to make a protein that helps control the processes of determining sexual charecteristics before birth.
Mutations in the DHH and NR5A1

This type of mutation has also been identified as the causes of Swyers syndrome in some cases. The DHH gene signals the body to produce protein that forms tissues while the NR5A1 gene prompts the body to produce the steroidogenic factor (SF1) which has a role in sex differentiation and production of sex hormones This protein controls the activity of sex hormones and gender differentiation. The mutation causes in the DHH and NR5A1 genes affect the process of sexual differentiation, preventing affected individuals with a typically male karyotype from developing testes and causing them to develop a uterus and fallopian tubes.
Rarer mutation

Some of the affected personals have mutation in the Wnt-4 (WNT4) gene, CBX2, GATA4 and WWOX genes. Researchers believe that there are more unidentified genes mutations that may be associated with this syndrome.