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Pure XX gonadal dysgenesis in identical twins

✍ Scribed by Ronald Youlton; Harold Michelsen; Cecilia Be; Ricardo Cruz-Coke

Book ID
119839277
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
288 KB
Volume
21
Category
Article
ISSN
0009-9163

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A family with four 46,XX siblings affected by the pure gonadal dysgenesis syndrome is described. Inheritance is by an autosomal recessive gene limited to the female sex.

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Six cases of Swyer's syndrome (46,XY pure gonadal dysgenesis) are reported. Three patients, without gonadal tumor, had female H-Y antigen. Three patients, after gonadal tumor ablation, had intermediate H-Y antigen levels. Repeated blood samples were obtained from two siblings. H-Y antigen level in t