SwyerSyndrom

Swyer syndrome, also known as 46,XY complete gonadal dysgenesis, is a rare genetic disorder characterized by the presence of a Y chromosome and a uterus but undeveloped or absent testes. Individuals with Swyer syndrome are typically assigned female at birth and present with a female phenotype, despite having XY chromosomes. This is because the Y chromosome in these individuals has a mutation in the SRY gene, which is responsible for male sex determination. Without a functional SRY gene, the gonads develop as streak gonads instead of testes, and the body does not produce male hormones like testosterone.

The condition is usually diagnosed during childhood or adolescence when a girl does not undergo puberty or experiences primary amenorrhea, the absence of menstruation. Other common signs include underdeveloped secondary sexual characteristics, such as breast development and pubic hair, and a lack of menstruation. Due to the absence of functional gonads, individuals with Swyer syndrome are infertile and do not produce sex hormones. They are at an increased risk of developing gonadoblastoma, a type of germ cell tumor, which is why surgical removal of the streak gonads is often recommended.

Treatment typically involves hormone replacement therapy to induce the development of secondary sexual characteristics and to maintain bone health. While individuals with Swyer syndrome cannot conceive naturally, assisted reproductive technologies may be an option for some to have children, although this is dependent on various factors and requires careful consideration. Genetic counseling is important for individuals and families affected by Swyer syndrome to understand the inheritance patterns and potential risks.