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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).
[48] [49] A 46,XY female, thus, does not have ovaries, [50] and can not contribute an egg towards conception. In some cases, 46, XY females do form a vestigial uterus and have been able to gestate children. Such examples are rare and have required the use of an egg donor, hormone therapy, and IVF. [51]
46,XX DSD: Genetic Female Sex Chromosomes. Mainly virilized females as a result of congenital adrenal hyperplasia (CAH) and girls with aberrant ovarian development. 46,XY DSD: Genetic Male Sex Chromosomes. Individuals with abnormal testicular differentiation, defects in testosterone biosynthesis, and impaired testosterone action.
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 ...
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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.