What Is A Swyer Syndrome?

Swyer syndrome or XY gonadal dysgenesis is a rare disease that affects the sexual development of an individual. Human beings, under normal conditions, possess 46 chromosomes out of which two determine the gender of a child - namely the X and Y chromosomes. The females possess the two of the X chromosomes (XX) and males possess one each of the X and Y chromosomes (XY).

Individuals affected by the Swyer syndrome possess the XY combination but have female reproductive structure. The external genitalia is similar to that of a woman and the fallopian tubes and uterus are normally formed as well. However, in place of the ovaries, they have underdeveloped gonad tissues or scar tissues known as streak gonads. The absence of the ovaries prevents puberty unless treated.

Symptoms of Swyer Syndrome

In most cases, external symptoms may not be visible until early teens. There are a few external symptoms that can be related to Swyer syndrome.

Primary amenorrhea during early teens that is caused due to the lack of estrogen
A smaller uterus and slightly enlarged clitoris
Lack of physical change in the body during teens

Causes and Treatment for Swyer syndrome

The exact causes of this syndrome remain unknown. Genetic mutation or disruption of cells that determine the sex chromosomes are believed to cause the Swyer syndrome.

Treatment varies based on the individual and nature of the syndrome. Some cases require surgical procedures to repair the external genitalia while hormone replacement therapy (HRT) remains the common treatment option. This will induce menstrual cycles and physical developments such as uterine growth and breast enlargement. The treatment also reduces the risk of decreased bone mineral density.

The gonad tissues often lead to benign or cancerous tumors and are often removed with surgical procedures as early as possible. Women affected will remain infertile due to the lack of ovaries but can get pregnant with the help of a donated egg.