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Swyer syndrome, also known as 46 XY complete (pure) gonadal dysgenesis (CGD), is a rare congenital disorder of sex development.People with Swyer syndrome, however, have an XY genetic makeup, or genotype, but develop a vagina, uterus, and Fallopian tubes instead of a penis and scrotum.This is referred to as a sex reversal, which is also evident in their overall physical appearance, also refered to as phenotype, resulting in unambiguous female external genitalia.

Swyer syndrome, also known as 46 XY complete (pure) gonadal dysgenesis (CGD), is a rare congenital disorder of sex development. It is characterized by the failed development of the sex glands (i.e. testicles or ovaries). Usually, the human genotype is made up of 46 chromosomes: 22 pairs that make up the autosomal chromosomes and a 23rd pair of sex chromosomes which determine the assigned sex of a newborn. If the sex chromosomes have an XX genetic makeup, they usually lead to the development of a vagina, uterus, and fallopian tubes; an XY genetic makeup, on the other hand, usually leads to the development of a penis and scrotum. People with Swyer syndrome, however, have an XY genetic makeup, or genotype, but develop a vagina, uterus, and Fallopian tubes instead of a penis and scrotum. This is referred to as a sex reversal, which is also evident in their overall physical appearance, also refered to as phenotype, resulting in unambiguous female external genitalia.