Swyer Syndrome, also known as 46 XY Complete Gonadal Dysgenesis, is a rare genetic disorder characterized by the absence of functional gonads in individuals with a male chromosomal pattern (46 XY). It affects approximately 1 in 30,000 to 1 in 100,000 newborns. The condition is typically diagnosed during adolescence or early adulthood when individuals fail to develop secondary sexual characteristics. Swyer Syndrome is caused by mutations in genes involved in gonadal development, leading to incomplete or absent testicular development. Early diagnosis and appropriate medical management are crucial for individuals with this condition.
Swyer Syndrome, also known as 46 XY Complete Gonadal Dysgenesis, is a rare genetic disorder that affects sexual development in individuals with a male chromosomal pattern (46 XY). It is characterized by the absence or underdevelopment of gonads (testes) and the presence of female external genitalia at birth.
The prevalence of Swyer Syndrome is estimated to be approximately 1 in 30,000 to 1 in 100,000 live births. Although it is considered a rare condition, the actual prevalence may be higher due to underdiagnosis or misdiagnosis. Swyer Syndrome is typically diagnosed during adolescence or early adulthood when individuals fail to undergo puberty.
Individuals with Swyer Syndrome have a higher risk of developing gonadal tumors, such as dysgerminoma, if the gonads are not surgically removed. Hormone replacement therapy is often required to induce secondary sexual characteristics and maintain bone health.
Genetic counseling is crucial for families affected by Swyer Syndrome as it is an autosomal sex-reversed disorder that can be inherited in an autosomal recessive or autosomal dominant manner, depending on the underlying genetic mutation.