Swyer syndrome
XY gonadal dysgenesis , GDXY (Abkürzung)
XY female type

At this point it is usually possible for a physician to make a diagnosis of Swyer syndrome.

Mutations to a few different genes are known to cause Swyer syndrome.

Swyer syndrome is distinguished by poor breast development and shorter stature.

The consequences of streak gonads to a person with Swyer syndrome:

Swyer syndrome as a form of "pure gonadal dysgenesis"

Women with Swyer syndrome have male genetics and lack ovaries, but have a uterus.

Swyer syndrome may increase the risk of developing germ cell tumors in the testes or ovaries.

If the testes fail to develop within eight weeks, the baby will develop female genitalia (see Swyer syndrome).

Swyer syndrome.

Mutations of SRY account for many cases of Swyer syndrome.

Swyer syndrome is an example of a condition in which an externally unambiguous female body carries dysgenetic, atypical, or abnormal gonads.

The 26 with complete undervirilization included 20 with complete androgen insensitivity and 6 with Swyer syndrome.

Swyer syndrome, or XY gonadal dysgenesis, is a type of hypogonadism in a person whose karyotype is 46,XY.

Loss of the SRY gene from the Y chromosome result in XY individuals, normally male, having female characteristics (Swyer syndrome).

Swyer syndrome usually occurs as a random event, but, in rare cases, can also be inherited in an autosomal dominant, autosomal recessive, X-linked or Y-linked manner.

Swyer syndrome represents one phenotypic result of a failure of the gonads to develop properly, and hence is part of a class of conditions termed gonadal dysgenesis.

As girls' ovaries normally produce no important body changes before puberty, a defect of the reproductive system typically remains unsuspected until puberty fails to occur in people with Swyer syndrome.

Girls with Swyer syndrome have an XY chromosomal makeup (as boys normally do) instead of an XX chromosomal makeup (as girls normally do).

A diagnosis of CAIS or Swyer syndrome can be made in utero by comparing a karyotype obtained by amniocentesis with the external genitalia of the fetus during a prenatal ultrasound.

The main differentials for CAIS are complete gonadal dysgenesis (Swyer syndrome) and Müllerian agenesis (Mayer-Rokitansky-Kuster-Hauser syndrome or MRKH).

Swyer syndrome, or XY gonadal dysgenesis, is a type of hypogonadism in a person whose karyotype is 46,XY.

Thus XX gonadal dysgenesis is also referred to as PGD, 46 XX, and XY gonadal dysgenesis as PGD, 46,XY or Swyer syndrome.