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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 .
XYY syndrome, also known as Jacobs syndrome, is an aneuploid genetic condition in which a male has an extra Y chromosome. [1] There are usually few symptoms. [2] These may include being taller than average and an increased risk of learning disabilities. [1] [2] The person is generally otherwise normal, including typical rates of fertility. [1]
The symptoms of Klinefelter's syndrome in a human male. DSDs caused by chromosomal variation generally do not present with genital ambiguity. This includes sex chromosome DSDs such as Klinefelter syndrome , Turner syndrome and 45,X or 46,XY gonadal dysgenesis .
XYYY syndrome, also known as 48,XYYY, is a chromosomal disorder in which a male has two extra copies of the Y chromosome. The syndrome is exceptionally rare, with only twelve recorded cases. The presentation of the syndrome is heterogeneous, but appears to be more severe than its counterpart XYY syndrome.
NHS. Claus Højbjerg Gravholt, a professor of genetic endocrinology, said it is impossible to state everyone with a Y chromosome is a male and everyone with an X chromosome is a female.
Complete androgen insensitivity syndrome causes a genetic male to have a vagina (often incompletely developed, nearly always blind-ending), breasts, and a clitoris; people with this form are raised as females. [25] Aphallia – a rare condition where a XY male is born without a penis. As of 2017, only 100 cases have been reported in literature ...
Acetaldehyde is also linked to some of the unpleasant symptoms of alcohol intoxication, such as headaches, flushing, hives and nausea, according to Lee. This type of genetic test may provide an ...
46,XX/46,XY chimeric or mosaic is associated with a wide spectrum of different physical presentations, with cases ranging from having a completely normal male or female phenotype [7] [8] [9] to some cases having ovotesticular syndrome. Due to this variation, genetic testing is the only way to reliably make a diagnosis.