Is Swyer syndrome genetic?
Most cases of Swyer syndrome are not inherited; they occur in people with no history of the condition in their family. These cases often result from new (de novo) variants in a gene that occur during the formation of reproductive cells (eggs or sperm) or in early embryonic development.
What is an XY woman?
XY gonadal dysgenesis, also known as Swyer syndrome, is a type of hypogonadism in a person whose karyotype is 46,XY. Though they typically have normal female external genitalia, the person has functionless gonads, fibrous tissue termed “streak gonads”, and if left untreated, will not experience puberty.
Is it possible to be an XY female?
Most males have XY chromosomes and most women have XX chromosomes. But there are girls and women who have XY chromosomes. This can happen, for example, when a girl has androgen insensitivity syndrome.
Is Swyer syndrome curable?
Treatment for Swyer syndrome includes surgery to remove undeveloped gonads (streak gonads) and hormone replacement therapy during adolescence. Streak gonads are removed as soon as possible because of the risk of them becoming cancerous.
Is Swyer syndrome dominant or recessive?
Swyer syndrome caused by variants in the DHH gene is inherited in an autosomal recessive pattern , which means both copies of the gene in each cell have variants. The parents of an individual with an autosomal recessive condition each have one copy of the altered gene.
Do people with Swyer syndrome menstruate?
Spontaneous menstruation has been reported in people with Swyer syndrome . While people with Swyer syndrome typically have functional female genitalia and structures including a vagina, uterus and fallopian tubes, they typically do not have ovaries and are therefore infertile.
What causes Swyer syndrome?
In most cases of Swyer syndrome, the exact cause of the disorder is unknown. Researchers believe that disruptions or changes (mutations) of a gene or genes that are involved in normal sex differentiation of a fetus with an XY chromosomal makeup cause Swyer syndrome.
What is Morris syndrome?
The Morris syndrome is a X-linked recessive condition due to a complete or partial insensitivity to androgens, resulting in a failure of normal masculinization of the external genitalia in chromosomally male individuals.
Can a woman have ay chromosome?
Most females with a Y chromosome have underdeveloped gonads that are prone to developing tumours and usually removed. However, when surgeons operated with the intention of removing the gonads they found normal-looking ovaries in the girl, and took only a tissue sample.
Do males have XY chromosomes?
Typically, biologically male individuals have one X and one Y chromosome (XY) while those who are biologically female have two X chromosomes. However, there are exceptions to this rule. The sex chromosomes determine the sex of offspring.
Can people with Swyer syndrome have kids?
Women with Swyer syndrome may be tall and often have a small uterus and a slightly enlarged clitoris in comparison to most women. Because women with Swyer syndrome lack ovaries, they are infertile. However, they can become pregnant through the implantation of donated eggs.
Can girls get their period on XY?
Mostly, it depends on the sexual and reproductive organs an individual is born with, whether they will have periods or not. If an intersex person is born with a functioning uterus, ovaries, and a vagina, most likely that person will start menstruating at puberty.
What is the genetic cause of Swyer syndrome?
In most individuals with Swyer syndrome, the cause is unknown. However, variants (also known as mutations) in one of several genes have been found to cause the condition in some affected individuals. Variants in the SRY gene have been found in approximately 15 percent of individuals with Swyer syndrome.
Are there gonads in people with Swyer syndrome?
People with Swyer syndrome have female external genitalia and some female internal genitalia; the uterus and fallopian tubes are normally-formed, but the gonads (ovaries or testes) are not functional. Instead, the gonads are small and underdeveloped and contain little gonadal tissue. These structures are called streak gonads.
What does Swyer syndrome stand for in medical terms?
Swyer syndrome is sometimes called 46,XY complete gonadal dysgenesis; the medical term “dysgenesis” indicates that development (in this condition, development of the gonads) is reduced and not typical. People with Swyer syndrome are usually raised as girls and have a female gender identity.
How are the ovaries affected by Swyer syndrome?
People with Swyer syndrome have typical female external genitalia. The uterus and fallopian tubes are normally-formed, but the gonads (ovaries or testes) are not functional; affected individuals have undeveloped clumps of tissue called streak gonads. Streak gonads often become cancerous, so they are usually surgically removed as early as possible.