What is XY gonadal dysgenesis?

XY gonadal dysgenesis (GD) is a result of abnormal testis development in utero. There are three types of GD, pure (or complete), partial, or mixed, all of which can be differentiated by the extent of normal testicular tissue within the gonad and karyotype of the individual.

What are symptoms of gonadal dysgenesis?

Clinical manifestation include primary amenorrhea, hypergonadotropic hypogonadism, streak gonads, infertility, and failure to develop secondary sex characteristics.

What is the cause of gonadal dysgenesis?

Pure 46, XX gonadal dysgenesis is typically caused by alterations to genetic information needed for ovarian development, present at the proximal Xp, and distal Xq regions of the X chromosome. These alterations include gene translocations, deletions, and mutations.

Do XY females menstruate?

They do not menstruate, and most will never be able to give birth. Apart from the discovery that more women have XY chromosomes than previously assumed, the researchers were also surprised about the variation in when these girls and women discover that something is different.

Can people with gonadal dysgenesis get pregnant?

Because the gonads are dysgenetic and nonfunctional, spontaneous pubertal development seldom occurs in these women (12), and successful pregnancy is even more unusual; unassisted pregnancy is unheard of (1).

What is XY gonadal dysgenesis (GD)?

XY gonadal dysgenesis (GD) is a result of abnormal testis development in utero. There are three types of GD, pure (or complete), partial, or mixed, all of which can be differentiated by the extent of normal testicular tissue within the gonad and karyotype of the individual.

What is Swyer syndrome (XY gonadal dysgenesis)?

Hongling Du, Hugh S. Taylor, in Principles of Developmental Genetics (Second Edition), 2015 Swyer syndrome, which is also known as XY gonadal dysgenesis, is a heterogeneous condition with variant forms that are caused, in most cases, by a structural abnormality on the Y chromosome that leads to SRY loss of function.

Which genes are involved in gonadal dysgenesis syndromes?

Several genes have been involved in the development of the urogenital ridge, including Emx2, Lim1, Lhx9, WT1, Gata-4/Fog2, Nr5a1/NR5A1. Although mutations or knockout models of these genes produce abnormal gonads in mice, not all these genes have been implicated in gonadal-dysgenesis syndromes in humans.

What is the most likely cause of gonadal dysgenesis?

Mutations in NR5A1 and LHX9were latter ruled out in these siblings (43). The origin of this disorder remains to be determined, but a defect in another gene essential for bipotential gonad development is the most likely cause of this disorder. 46,XY DSD due to Gonadal Dysgenesis Complete and partial 46,XY gonadal dysgenesis