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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 .
In humans, the presence of the Y chromosome is responsible for triggering male development; in the absence of the Y chromosome, the fetus will undergo female development, except with various exceptions such as individuals with Swyer syndrome, that have XY chromosomes and a female phenotype, and de la Chapelle Syndrome, that have XX chromosomes ...
She told Good Morning Britain, "Genetically, I have XY chromosomes so the genetic makeup of a man, but physically I grew as a woman because the Y chromosome was faulty. I am a woman, I just didn't ...
In the absence of a Y chromosome, the fetus will undergo female development. This is because of the presence of the sex-determining region of the Y chromosome, also known as the SRY gene. [5] Thus, male mammals typically have an X and a Y chromosome (XY), while female mammals typically have two X chromosomes (XX).
Individuals can either have sex chromosomes generally linked with being female (XX chromosomes) or usually associated with being a man (XY chromosomes), yet have reproductive organs and genitals ...
This is an accepted version of this page This is the latest accepted revision, reviewed on 24 December 2024. Atypical congenital variations of sex characteristics This article is about intersex in humans. For intersex in other animals, see Intersex (biology). Not to be confused with Hermaphrodite. Intersex topics Human rights and legal issues Compulsory sterilization Discrimination Human ...
It is most problematic in genetic females, where severe virilization can result in funding of labia and an enlarged clitoris. [34] [35] Females with this condition are usually fertile, with the ability to become pregnant and give birth. The salt-wasting variety of this condition is fatal in infants if left untreated.
With modern treatments, we can even test embryos to see if they contain the correct 23 pairs of chromosomes, giving them the best chance to result in a healthy baby.