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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]
Mixed gonadal dysgenesis, also known as X0/XY mosaicism or partial gonadal dysgenesis, [21] is a sex development difference associated with sex chromosome aneuploidy and mosaicism of the Y chromosome. [14] Mixed gonadal dysgenesis is the presence of two or more germ line cells. [23]
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 .
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]
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).
In the 1950s, endocrinologists developed a basic understanding of the major intersex conditions such as congenital adrenal hyperplasia (CAH), androgen insensitivity syndrome, and mixed gonadal dysgenesis. The discovery of cortisone allowed survival of infants with severe CAH for the first time. New hormone tests and karyotypes allowed more ...
46, XX gonadal dysgenesis; 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.
Two different genes, each with five exons and four introns, designated as SRD5A1 and SDR5A2, encode two different 5α-reductases. The human 5α-reductase-2 gene (SRD5A2) is located on the short arm of chromosome 2 at band 23 and encodes a 254 amino acid protein, called 5α-reductase type 2.