[Swyer syndrome. Apropos of a new case of pure gonadal dysgenesis with Karyotype 46 XY].
The authors describe a case they have personally seen of pure gonadal dysgenesis with caryotype 46 XY (Swyers' syndrome) in which they found absence of HY antigen. They analysed the descriptions in the literature about this syndrome and show how this antigen is responsible for testicular differentiation. They show the place this syndrome has in the group of syndromes of bands and once again draw attention that there is a great risk of gonadoblastoma development when the Y chromosome is present and especially when the HY antigen is present. This means that these dysgenetic gonads should be removed surgically.
D000293:Adolescent; D005260:Female; D006059:Gonadal Dysgenesis / Q000235:genetics*; D006061:Gonadal Dysgenesis, 46,XY / Q000235:genetics* / Q000601:surgery; D006801:Humans; D010051:Ovarian Neoplasms / Q000209:etiology / Q000235:genetics / Q000601:surgery; D011230:Precancerous Conditions / Q000235:genetics / Q000601:surgery
Syndrome de Swyers. A propos d'un nouveau cas de dysgénésie gonadique pure à caryotype 46 XY.