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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 .
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]
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).
It adds: “Some people with a very rare type of DSD have both ovarian and testicular tissue (sometimes one ovary and one testis). Their genitals may appear female or male or could look different ...
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 ...
Pain during intercourse; Abnormally high levels of androgens in the blood (hyperandrogenism) May develop acne and male pattern of hair growth including hair on the face/chest ; Susceptible to urinary tract infections and/or kidney stones; Ovary, the female reproductive organ.
Ovotesticular disorder: patients having both ovarian and testicular tissue. In some cases the ovarian tissue is functional. XY, Sex reversal: patients with female phenotypes where duplication in the Xp21.2 region of the X chromosome that contains the NR0B1 gene is associated with XY sex reversal.
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