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The SRY gene, normally found on the Y chromosome, plays an important role in sex determination by initiating testicular development. In about 80 percent of XX males, the SRY gene is present on one of the X chromosomes. [16] [25] The condition results from an abnormal exchange of genetic material between chromosomes (translocation).
In humans, the SRY gene is located on short (p) arm of the Y chromosome at position 11.2. Sex-determining region Y protein (SRY), or testis-determining factor (TDF), is a DNA-binding protein (also known as gene-regulatory protein/transcription factor) encoded by the SRY gene that is responsible for the initiation of male sex determination in therian mammals (placentals and marsupials). [5]
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]
SRY is a gene which regulates sexual differentiation. ... It is worth noting that between 1.7% and 4% of humans may be classified as intersex, which can mean ...
In contrast, 60% used the term "intersex" in some form to self-describe their sex characteristics. [80] A committee of the Senate of Australia found that labelling intersex as "pejorative" appeared to be a post-hoc rationalisation in the 2006 Consensus statement. It recommended a review of clinical use of the term. [92]
There are other variations in which, during embryonic development, the WNT4 gene [7] is activated and/or the SRY gene is damaged leading to birth of an XY female (Swyer syndrome [7]). A Y chromosome may also be present but fail to result in the development of a male phenotype in individuals with androgen insensitivity syndrome , instead ...
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.
In typical prenatal sex differentiation, the male and female embryo is anatomically identical until week 7 of the pregnancy, when the presence or the absence of the SRY gene on the Y chromosome causes the undetermined gonadal tissue to undergo differentiation and eventually will become either a pair of testes or ovaries respectively. [4]