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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 .
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.
45,X/46,XY mosaicism, also known as X0/XY mosaicism and mixed gonadal dysgenesis, [1] is a mutation of sex development in humans associated with sex chromosome aneuploidy and mosaicism of the Y chromosome. It is a fairly rare chromosomal disorder at birth, with an estimated incidence rate of about 1 in 15,000 live births. [2]
Individuals can either have sex chromosomes generally linked with being female (XX chromosomes) or usually associated with being a man (XY chromosomes), yet have reproductive organs and genitals ...
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).
XX gonadal dysgenesis is a type of female hypogonadism in which the ovaries do not function to induce puberty in a person assigned female at birth, whose karyotype is 46,XX. [1] Individuals with XX gonadal dysgenesis have normal-appearing external genitalia as well as Müllerian structures (e.g., cervix, vagina, uterus).
Persons with a complete androgen insensitivity have a typical female external phenotype, despite having a 46,XY karyotype. [16] [17]Individuals with complete androgen insensitivity syndrome (grades 6 and 7 on the Quigley scale) are born with an external female phenotype, without any signs of genital masculinization, despite having a 46,XY karyotype. [18]
Sex differences in human physiology are distinctions of physiological characteristics associated with either male or female humans. These differences are caused by the effects of the different sex chromosome complement in males and females, and differential exposure to gonadal sex hormones during development.
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