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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.
Males have one Y chromosome and one X chromosome, while females have two X chromosomes. In mammals, the Y chromosome contains a gene, SRY, which triggers embryonic development as a male. The Y chromosomes of humans and other mammals also contain other genes needed for normal sperm production. [citation needed] There are exceptions, however.
Most mammals, including humans, have an XY sex-determination system: the Y chromosome carries factors responsible for triggering male development. 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]
“However, it has been questioned whether loss of the Y chromosome is a biomarker of biological aging or whether loss of the Y chromosome has a direct effect on the health of men,” he said.
For most females, this pair contains two X chromosomes, while for most males, it contains one X chromosome and one Y chromosome. Since 2010, scientists have known that the Y chromosome is rapidly ...
Turner syndrome (Ullrich-Turner syndrome and gonadal dysgenesis) – a condition that describes a female born with only one X chromosome or with an abnormal X chromosome, making her karotype 45,X0. It occurs in 1 in 2,000 to 5,000 females. [ 61 ]
Gonadoblastomas are precancerous lesions that predominantly form in intersex people with gonadal dysgenesis and a Y chromosome. [38] 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]
Scientists fully sequence the Y chromosome for the first time, uncovering information that could have implications for the study of male infertility and other issues. Scientists have finally ...