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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.
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).
The 46,XY cells will continue to multiply at the same time as the 45,X cells multiply. The embryo, then the fetus, and then eventually the baby will have what is known as a 45,X/46,XY constitution. There are many chromosomal variations that cause the 45,X/46,XY karyotype, including malformation (isodicentricism) of the Y chromosomes, deletions ...
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).
46, XY gonadal dysgenesis, also known as Swyer syndrome 46, XX male syndrome , also known as de la Chapelle syndrome In this list, the karyotype is summarized by the number of chromosomes, followed by the sex chromosomes present in each cell.
Whilst XY sex determination is the most familiar, since it is the system that humans use, there are a range of alternative systems found in nature. The inverse of the XY system (called ZW to distinguish it) is used in birds and many insects, in which it is the females that are heterogametic (ZW), while males are homogametic (ZZ). [18]
AP chest x-rays are harder to read than PA x-rays and are therefore generally reserved for situations where it is difficult for the patient to get an ordinary chest x-ray, such as when the patient is bedridden. In this situation, mobile X-ray equipment is used to obtain a lying down chest x-ray (known as a "supine film").