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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 .
46,XY gonadal dysgenesis is characteristic of male hypogonadism with karyotype 46,XY. [12] In embryogenesis, the development of the male gonads is primarily controlled by the testis determining factor located on the sex-determining region of the Y chromosome . [12]
Whilst XY sex determination is the most familiar, since it is the system that humans use, there are a range of alternative systems found in nature. The inverse of the XY system (called ZW to distinguish it) is used in birds and many insects, in which it is the females that are heterogametic (ZW), while males are homogametic (ZZ). [18]
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]
The human Y chromosome showing the SRY gene which codes for a protein regulating sexual differentiation. Sexual differentiation in humans is the process of development of sex differences in humans . It is defined as the development of phenotypic structures consequent to the action of hormones produced following gonadal determination. [ 1 ]
46,XX/46,XY is an example of tetragametic chimerism because it requires four gametes – two sperm and two ova. 46,XX/46,XY is most commonly explained during in conception combination of two fertilized eggs zygotes. Two ova from the mother are fertilized by two sperm from the father. One sperm contains an X chromosome; the other contains a Y ...
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.
XY in humans Primary sexual characteristics: Gonads: ovaries: testicles: Levels of sex hormones: high estrogen and gestagens (including progesterone); low androgens (including testosterone) high androgens (including testosterone) Anatomy of internal genitalia: clitoral crura, vagina, uterus, fallopian tubes: corpora cavernosa, prostate, vas ...