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Swyer Syndrome

Decent Essays
Swyer Syndrome, also refered as XY gonadal dysgenesis, is a rare disorder in which sexual development is affected. Sexual development is usually determined by an individual’s chromosomes but with Swyer Syndrome that is not the case. This disorder affects 1 in 80,000 people. “Sywer Syndrome was first described in the medical literature by Dr.Swyer in 1955.” (2016). Individuals with this disease are born with 46, XY, Karyotype but have female reproductive parts. Even though these women are born without ovaries and do not produce sex hormones they can still live a normal life.
“Chromosomes are packets of genetic code which determine the blueprint for our body” (Ehtisham, 2016). People are born with 46 chromosomes; two of which are called sex
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“The condition usually first becomes apparent in adolescence with delayed puberty and primary amenorrhea due to the gonads have no hormonal or reproductive potential” (Wang, 2011). Since these individuals are unable to go through puberty since they lack the sex hormones estrogen and progesterone, they can be placed on hormone replacement therapy during adolescence to induce menstruation. These hormones will also aid in the development of female secondary sex characteristics such as breast enlargement and uterine growth. Woman with this disorder cannot produce ova but can still become pregnant. They can do so by a donated egg or embryo. Hormone replacement therapy also helps these people by reducing the chance of them developing reduced bone density like osteopenia and osteoporosis…show more content…
It is not likely for Swyer Syndrome to be inherited. It can be from non-genetic causes or from new mutations in a gene during the formation of reproductive cells or in the early stages of embryonic development. (2012). “Mutations in the SRY gene have been identified in approximately 15 percent of individuals with Swyer syndrome.” (2016). This gene is located on the Y chromosome, it provides the instructions for making the sex-determining region Y protein. SRY mutation prevents the production of the sex-determining region Y protein or it can result in a non-functioning protein. If the fetus cells’ do no produce a functioning sex-determining region Y protein then they will not develop testes but will develop a uterus and fallopian tubes instead, even though they have a male karyotype
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