Pure gonadal dysgenesis (Type XX)
β Scribed by H. R. S. Nazareth; L. M. S. Farah; A. J. B. Cunha; F. J. P. B. Vieira
- Book ID
- 104708715
- Publisher
- Springer
- Year
- 1977
- Tongue
- English
- Weight
- 166 KB
- Volume
- 37
- Category
- Article
- ISSN
- 0340-6717
No coin nor oath required. For personal study only.
β¦ Synopsis
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.
π SIMILAR VOLUMES
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
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