XY gonadal dysgenesis
gonadal dysgenesis that is characterized by a normal 46,XY karyotype along with a progressive loss of germ cells on the developing gonads of an embryo
XY complete gonadal dysgenesis, also known as Swyer syndrome, is a condition resulting in a female phenotype in an individual with a 46,XY karyotype. Though they typically have normal vulvas, those affected typically have underdeveloped gonads, fibrous tissue termed "streak gonads", and without hormone replacement therapy, typically will not experience puberty. The cause is often, but not always, inactivation of the SRY gene, which is responsible for sexual differentiation. Pregnancy is sometimes possible in Swyer syndrome with assisted reproductive technology, and, in at least one case, without it.
The syndrome was named after Gerald Swyer, an endocrinologist based at London's University College Hospital,
who first reported two cases in 1955.
Signs and symptoms
Those with Swyer syndrome develop phenotypes typical of females and nonfunctional gonads. Individuals are most commonly diagnosed during adolescence after puberty fails to occur.
The consequences of Swyer syndrome without treatment:
The individual's gonads do not have two X chromosomes, so the breasts will not develop and the uterus will not grow and menstruate until estrogen is administered. This is often given transdermally.
Their gonads cannot make progesterone, so menstrual periods will not be predictable until progestin is administered, usually as a pill.
Begin with the source’s own compact description: “XY gonadal dysgenesis” is gonadal dysgenesis that is characterized by a normal 46,XY karyotype along with a progressive loss of germ cells on the developing gonads of an embryo. The dossier treats that line as a proposition to test through gonadal, dysgenesis and characterized, not as a finished interpretation.
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Named sources, stable identifiers and responsible institutions provide the strongest route from overview to verifiable evidence. The source revision retrieved here is dated Aug 8, 2026. The linked authority identifier is Q957751. None of the 0 selected statements returned an explicit reference. The first chronological checks are 1955.
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