Search results
Results From The WOW.Com Content Network
Gonadal dysgenesis is classified as any congenital developmental disorder of the reproductive system characterized by a progressive loss of primordial germ cells on the developing gonads of an embryo. [1] [2] One type of gonadal dysgenesis is the development of functionless, fibrous tissue, termed streak gonads, instead of reproductive tissue. [3]
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 .
45,X/46,XY mosaicism, also known as X0/XY mosaicism and mixed gonadal dysgenesis, [1] is a mutation of sex development in humans associated with sex chromosome aneuploidy and mosaicism of the Y chromosome. It is a fairly rare chromosomal disorder at birth, with an estimated incidence rate of about 1 in 15,000 live births. [2]
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 ejaculatory duct , but ...
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).
Complete androgen insensitivity syndrome (CAIS) is an AIS condition that results in the complete inability of the cell to respond to androgens. [ 1 ] [ 2 ] [ 3 ] As such, the insensitivity to androgens is only clinically significant when it occurs in individuals who are exposed to significant amounts of testosterone at some point in their lives ...
But most of the studies raising alarm have been in labs or in animal models that don’t give a complete picture of the effect on humans, says Mary Margaret Johnson, MD, PhD, a principal research ...
Mixed gonadal dysgenesis (45,XO/46,XY karyotype) Tetragametic chimerism (46,XX/46,XY karyotype) Androgen biosynthetic dysfunction in 46,XY individuals: Luteinizing hormone (LH) receptor mutations; Smith–Lemli–Opitz syndrome (associated with intellectual disability) Lipoid congenital adrenal hyperplasia; 3β-hydroxysteroid dehydrogenase 2 ...