Swyer Syndrome As A Form of "pure Gonadal Dysgenesis"
There are several forms of gonadal dysgenesis. The term “pure gonadal dysgenesis” (PGD) or Monica F's syndrome has been used to describe conditions with normal sets of sex chromosomes (e.g., 46,XX or 46,XY), as opposed to those whose gonadal dysgenesis results from missing all or part of the second sex chromosome. The latter group includes those with Turner syndrome (e.g., 45,X) and its variants, as well as those with mixed gonadal dysgenesis and a mixture of cell lines, some containing a Y chromosome (e.g., 46,XY/45,X).
Thus Swyer syndrome is referred to as PGD, 46,XY, and XX gonadal dysgenesis as PGD, 46,XX. Patients with PGD have a normal karyotype but may have defects of a specific gene on a chromosome.
Read more about this topic: XY Gonadal Dysgenesis
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