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| XX gonadal dysgenesis ： ウィキペディア英語版 |
XX gonadal dysgenesis
This syndrome is inherited as an autosomal disease. It affects both males and females but the phenotype differs. In both sexes sensorineural deafness occurs but in females ovarian dysgenesis also occurs.
XX gonadal dysgenesis is a type of female hypogonadism in which no functional ovaries are present to induce puberty in an otherwise normal girl whose karyotype is found to be 46,XX. With nonfunctional ''streak'' ovaries she is low in estrogen levels (hypoestrogenic) and has high levels of FSH and LH. Estrogen and progesterone therapy is usually then commenced.
==XX GD as a form of “pure gonadal dysgenesis”==
The term “pure gonadal dysgenesis” (PGD) has been used to distinguish a group of patients from gonadal dysgenesis related to Turner syndrome. In the latter a distinct chromosomal aberration is present, while in PGD the chromosomal constellation is either 46,XX or 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.〔(Log In Problems )〕 Patients with PGD have a normal chromosomal constellation but may have localized genetic alterations.
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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