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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 .
Turner syndrome was first described independently by Otto Ulrich in 1930 and Henry Turner in 1938. [29] 46,XX pure gonadal dysgenesis was first reported in 1960. [29] 46,XY pure gonadal dysgenesis, also known as Swyer syndrome, was first described by Gim Swyer in 1955. [29]
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 ...
Men with mild androgen insensitivity syndrome may have reduced fertility. Mixed gonadal dysgenesis – a condition of unusual and asymmetrical gonadal development leading to an unassigned sex differentiation. A number of differences have been reported in the karyotype, most commonly a mosaicism 45,X/ 46,XY. [52]
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.
Swyer Syndrome: SRY gene is transferred to the X chromosome instead of staying on the Y chromosome, testis development will no longer occur. Characterized by an XY karyotype and female phenotype. Individuals have normally formed uteri and fallopian tubes, but the gonads are not functional. XX Male Syndrome
Algerian welterweight Imane Khelif will fight for gold in women's Olympic boxing Friday. But the 25-year-old boxer's time in Paris has become the latest focus of a global debate about gender and ...
Swyer syndrome. A form of complete gonadal dysgenesis, mostly due to mutations in the first step of sex determination; the SRY genes. A 5-alpha-reductase deficiency results in atypical development characterized by female phenotype or undervirilized male phenotype with development of the epididymis , vas deferens , seminal vesicle , and ...