Swyer's syndrome, or pure gonadal dysgenesis XY, is a rare disease where a woman has male chromosomes and that is why her sex glands do not develop and she does not have a very feminine image. Its treatment is done with the use of synthetic female hormones for life, but it is not possible to get pregnant.
Symptoms of Swyer syndrome
Symptoms of Swyer syndrome are:
- Absence of menstruation at puberty;
- Little or no breast development;
- Little feminine appearance;
- Normal axillary and pubic hair;
- There may be tall stature;
- There are normal or infantile uterus, tubes and upper part of the vagina.
Diagnosis of Swyer syndrome
For the diagnosis of Swyer syndrome, it is recommended to perform blood tests that show elevated gonadotropins and reduced levels of estrogen and testosterone. In addition it is recommended:
- laboratory tests to screen for infectious or autoimmune diseases,
- karyotype analysis,
- molecular studies and
- ovarian tissue biopsy may be required.
This syndrome is usually diagnosed in adolescence.
Causes of Swyer syndrome
The causes of Swyer syndrome are genetic.
Treatment for Swyer syndrome
Treatment for Swyer syndrome is done with the use of synthetic hormones for life. This medicine will make a woman's appearance more feminine, but does not allow pregnancy.
A common complication of Swyer syndrome is the development of a tumor in the gonads and surgery for its removal is indicated as a way to prevent this type of cancer.
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