Swyer syndrome causes a person to have a female appearance but male chromosomes. They do not have functional ovaries or testicles and are typically raised as female. HRT is the standard treatment, and counseling may be necessary for gender identity issues. Surgery is possible for those who identify as male.
Swyer syndrome is a rare genetic disorder that causes the affected person to have the physical appearance of a female and the chromosome composition 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. HRT is the standard treatment for Swyer syndrome, and counseling may become necessary as the patient ages, especially if gender identity issues become apparent.
Most cases of Swyer syndrome are thought to result from random genetic mutations, although it is possible for one parent to pass on a mutated genetic 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 teenager is tested to determine the reasons for the delayed puberty. Blood tests and pelvic imaging results can often reveal the presence of Swyer syndrome.
There are abnormal masses of tissue where the ovaries or testicles should be in those born with Swyer syndrome. Over time, these masses can become cancerous, prompting many doctors to remove the tissue shortly after diagnosis. With no functioning ovaries, menstruation and fertility are not possible without the assistance of HRT. HRT allows the person with this disorder to develop secondary female sexual characteristics such as breasts and enlargement of the hips. Donated eggs and the use of IVF can enable 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 woman because the outside of the body looks feminine. This has sometimes caused emotional problems for those who struggle with gender identity issues. Because of the presence of male chromosomes, some people with the condition are more comfortable identifying as male. Extensive psychological therapy and counseling for the patient and family may be recommended in these situations. If the patient decides to live life as a male, different types of hormone therapy can be used and surgery is possible so that the physical body looks more like that of a typical male.
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