Swyer syndrome

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Swyer Syndrome

Swyer Syndrome (pronounced: /ˈswaɪ.ər/), also known as XY gonadal dysgenesis, is a rare, genetic disorder characterized by a failure of sex development in the womb. The condition is named after Dr. Gerald Swyer, who first described it in 1955.

Etymology

The term "Swyer Syndrome" is derived from the name of the British endocrinologist Gerald Swyer, who first identified the condition. The term "gonadal dysgenesis" refers to the abnormal development of the gonads, which are the primary reproductive organs (i.e., the ovaries in females and testes in males).

Definition

Swyer Syndrome is a condition in which individuals are born with typical female external genitalia but have an XY chromosome pattern. Most people with Swyer Syndrome are raised as girls and have a female gender identity. Despite having non-functional gonads, which typically develop into streak gonads, individuals with Swyer Syndrome can have normal sexual intercourse and can become pregnant through assisted reproductive technologies.

Symptoms

The primary symptom of Swyer Syndrome is a lack of menstruation by age 16, a condition known as primary amenorrhea. Other symptoms may include delayed puberty and a lack of secondary sexual characteristics, such as breast development.

Causes

Swyer Syndrome is caused by mutations in certain genes, including the SRY gene, which is critical for testis development. These mutations prevent the normal sexual development of the fetus in the womb.

Diagnosis

Diagnosis of Swyer Syndrome typically occurs in adolescence when menstruation does not begin. Medical imaging, such as ultrasound, and blood tests to measure hormone levels can help confirm the diagnosis. Genetic testing can also identify the presence of an SRY gene mutation.

Treatment

Treatment for Swyer Syndrome typically involves hormone replacement therapy to induce puberty and menstruation. Surgery may be required to remove streak gonads due to the risk of cancer. Fertility treatments can help individuals with Swyer Syndrome become pregnant.

Related Terms

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