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XY gonadal dysgenesis
Swyer syndrome, or XY gonadal dysgenesis, is a type of hypogonadism in a person whose karyotype is 46,XY. The person is externally female with streak gonads, and left untreated, will not experience puberty. Such gonads are typically surgically removed (as they have a significant risk of developing tumors) and a typical medical treatment would include hormone replacement therapy with female hormones.
The syndrome was named by Gerald Swyer, an endocrinologist, based in London, UK.
== Swyer syndrome as a form of "pure gonadal dysgenesis"==
There are several forms of gonadal dysgenesis. The term “pure gonadal dysgenesis” (PGD) 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 (i.e., 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.〔(Specific Disorders of Ambiguous Genitalia )〕 Patients with PGD have a normal karyotype but may have defects of a specific gene on a chromosome.
抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』
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