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46,XX gonadal dysgenesis and ovarian hypoplasia

✍ Scribed by Jana Málková; Radovan Chrz; Karel Motlík; Ladislav Stárka; Jitka Kobilková; Eva Šilinková-Málková


Publisher
Springer
Year
1974
Tongue
English
Weight
412 KB
Volume
23
Category
Article
ISSN
0340-6717

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Pure gonadal dysgenesis with 46,XX genotype is a rare abnormality with unknown etiology. Although sensorineural deafness has been described with 46,XX gonadal dysgenesis, the majority of reported cases of 46,XX gonadal dysgenesis have no associated physical abnormalities. We report a patient with 46

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Gonadal (ovarian) dysgenesis with normal chromosomes (46,XX) clearly is a heterogeneous condition. In some forms, the defect is restricted to the gonads, whereas other affected females show neurosensory hearing loss (Perrault syndrome). In another form, brothers may have germ cell aplasia [Granat et

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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