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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 .
[1] [2] One type of gonadal dysgenesis is the development of functionless, fibrous tissue, termed streak gonads, instead of reproductive tissue. [3] Streak gonads are a form of aplasia , resulting in hormonal failure that manifests as sexual infantism and infertility , with no initiation of puberty and secondary sex characteristics .
The human Y chromosome showing the SRY gene which codes for a protein regulating sexual differentiation. Sexual differentiation in humans is the process of development of sex differences in humans . It is defined as the development of phenotypic structures consequent to the action of hormones produced following gonadal determination. [ 1 ]
By E12, sexual differentiation of the gonad is apparent, indicating that genes involved in the formation of the bipotential gonad are expressed before E10.5 and E12. Before E10.5, Dmrt1 is expressed at similar levels in the genital ridges of XX as well as XY embryos.
Meanwhile, XY gonadal dysgenesis is known as PGD, 46,XY or Swyer syndrome. Patients with PGD have a normal chromosomal constellation but may have localized genetic alterations. XX gonadal dysgenesis is related to Swyer syndrome, since both conditions have the same phenotype and clinical issues; however in Swyer syndrome the karyotype is 46,XY ...
Leading to the presence of 2 vaginas, 2 uteruses, a single kidney. Can also affect the spleen, bladder and other urogenital structures. [40] [41] Isolated 17,20-lyase deficiency – a condition that is characterized by either partial or complete inability to produce androgens and estrogens. [42]
A difference in phenotype in mice with different type of gonad shows the effects of gonadal hormones. Four Core Genotypes ( FCG ) mice are laboratory mice produced by genetic engineering that allow biomedical researchers to determine if a sex difference in phenotype is caused by effects of gonadal hormones or sex chromosome genes.
Pseudohermaphroditism is an outdated [1] term for when an individual's gonads were mismatched with their internal reproductive system and/or external genitalia. The term was contrasted with "true hermaphroditism" (now known as ovotesticular syndrome), a condition describing an individual with both female and male reproductive gonadal tissues.