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XY complete gonadal dysgenesis, also known as Swyer syndrome, is a type of defect hypogonadism in a person whose karyotype is 46,XY. Though they typically have normal vulvas , [ 1 ] the person has underdeveloped gonads, fibrous tissue termed " streak gonads ", and if left untreated, will not experience puberty .
If a Y chromosome is lacking, or defective as seen in Swyer syndrome, the embryo will reabsorb the mesonephric ducts and proceed with paramesonephric ducts, which give rise to ovaries. The Y chromosome contains a sex-determining region called the SRY gene. Thus, the developmental plan of the embryo is altered only if this gene is present and ...
The tip of the Y chromosome contains the SRY gene and, during recombination, a translocation occurs in which the SRY gene becomes part of the X chromosome. [15] [26] If a fetus is conceived from a sperm cell with an X chromosome bearing the SRY gene, it will develop as a male despite not having a Y chromosome. This form of the condition is ...
Turner syndrome, also known as 45,X or 45,X0, is a chromosomal abnormality characterised by a partial or completely missing second X chromosome, [4] [24] [25] giving a chromosomal count of 45, instead of the typical count of 46 chromosomes. [24]
Klinefelter Syndrome: Inherit a normal Y chromosome and multiple X chromosomes, giving persons a karyotype of XXY. Persons with this are considered male. Swyer Syndrome: SRY gene is transferred to the X chromosome instead of staying on the Y chromosome, testis development will no longer occur. Characterized by an XY karyotype and female phenotype.
In some cases, that means that people are born with what are typically considered as male chromosomes — one X and one Y chromosome — but outwardly have female characteristics, including a vulva.
This includes conditions such as Swyer syndrome or Turner syndrome with Y chromosome mosaicism. [39] [38] These cancer risks are addressed using genetic screening and performing a gonadectomy if necessary. [38] The undescended testes of those with androgen insensitivity syndrome also pose a cancer risk.
In the absence of a Y chromosome, the fetus will undergo female development. This is because of the presence of the sex-determining region of the Y chromosome, also known as the SRY gene. [5] Thus, male mammals typically have an X and a Y chromosome (XY), while female mammals typically have two X chromosomes (XX).