What is Swyer Syndrome / 46 XY Complete Gonadal Dysgenesis

Swyer Syndrome / 46 XY Complete Gonadal Dysgenesis is a rare genetic condition that affects sexual development in individuals assigned female at birth. It is characterized by the presence of a 46 XY karyotype, typically associated with males, but with incomplete or absent development of the gonads (testes or ovaries). This condition is caused by mutations in certain genes involved in the development of the gonads.

Individuals with Swyer Syndrome usually have normal female external genitalia and are often raised as girls. However, their internal reproductive organs, such as the uterus and fallopian tubes, are typically underdeveloped or absent. As a result, affected individuals are usually unable to conceive naturally.

Diagnosis of Swyer Syndrome is typically made during adolescence or early adulthood when individuals fail to undergo puberty. Hormone replacement therapy is often recommended to induce the development of secondary sexual characteristics, such as breast development and the growth of pubic hair.

Genetic counseling is important for individuals with Swyer Syndrome and their families, as it can help them understand the inheritance pattern and the potential risk of passing the condition to future generations.