What Is Swyer Syndrome?

Swyer syndrome is a rare genetic disorder that causes the affected person to have the physical appearance of a female and the chromosomal makeup of a male. A person with this disorder is typically raised as a female due to the normal appearance of female genitalia and the presence of a uterus and fallopian tubes. Those with Swyer syndrome do not have functional ovaries or testicles and usually have the underdeveloped gonads removed early in life to prevent cancer from occurring. Hormone replacement therapy is the standard treatment for Swyer syndrome, and counseling may become necessary as the patient gets older, especially if gender identity issues become apparent.

Most cases of Swyer syndrome are believed to stem from random genetic mutations, although it is possible for a parent to pass on a mutated gene pattern, even if neither parent has obvious signs of the disorder. This condition is normally diagnosed around the age when puberty is expected and the adolescent undergoes tests to determine the reasons for delayed puberty. Blood tests and pelvic imaging results can often reveal the presence of Swyer syndrome.

Abnormal masses of tissue are present where the ovaries or testicles should be in those born with Swyer syndrome. Over time, these masses may become cancerous, prompting many doctors to remove the tissue shortly after diagnosis. With the absence of functioning ovaries, menstruation and fertility are not possible without the assistance of hormone replacement therapy. Hormone replacement therapy allows the person with this disorder to develop secondary female sex characteristics such as breasts and a widening of the hips. Donated eggs and the use of in vitro fertilization may allow a person with this condition to successfully carry a pregnancy to term, although pregnancy is not possible without the help of medical science.

Traditionally, a person diagnosed with Swyer syndrome has been encouraged by family members and doctors to live life as a female because the external part of the body appears to female. This has sometimes caused emotional problems for those who struggle with gender identity issues. Due to the presence of male chromosomes, some people with this condition are more comfortable identifying as male. Extensive psychological therapy and counseling for the patient as well as the family may be recommended in these situations. If the patient decides to live life as a male, different types of hormone therapy may be used, and surgical intervention is possible so that the physical body more closely resembles that of a typical male.