The XY female and SWYER syndrome
Abtsract: SWYER syndrome or pure gonadal dysgenesis is a disease in which individuals with a female phenotype, with female external genital organs, have a 46 XY karyotype and streak gonads that ought to be removed given their high malignization potential. We present the case of a patient with Swyer...
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Elsevier
2019-09-01
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| Series: | Urology Case Reports |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2214442019302025 |
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doaj-53cff584e5534f24906897168a74c4542020-11-25T01:54:35ZengElsevierUrology Case Reports2214-44202019-09-0126The XY female and SWYER syndromeKarine F. Meyer0Luiz G. Freitas Filho1Karina I. Silva2Pedro A. Trauzcinsky3Cristina Reuter4Maria Beatriz M. Souza5Universidade de Blumenau, BrazilUniversidade Federal de São Paulo, Surgery Department, Brazil; Corresponding author. Rua Batista Cepelos 87, ap 61, 04109-120, São Paulo, Brazil. +55 11 983231200.Universidade de Blumenau, BrazilUniversidade de Blumenau, BrazilUniversidade de Blumenau, BrazilUniversidade Federal de São Paulo, Surgery Department, BrazilAbtsract: SWYER syndrome or pure gonadal dysgenesis is a disease in which individuals with a female phenotype, with female external genital organs, have a 46 XY karyotype and streak gonads that ought to be removed given their high malignization potential. We present the case of a patient with Swyer syndrome, and compare them with other cases of patients with a 46 XY karyotype, phenotypically female, such as in Congenital Adrenal Hyperplasia from deficiency of the 17 α hydroxylase/17–20 Lyase enzyme and in the Congenital Androgenic Insensitivity Syndrome. Keywords: Swyer syndrome, Gonadal dysgenesis, Primary amenorrhea, 46 XYhttp://www.sciencedirect.com/science/article/pii/S2214442019302025 |
| collection |
DOAJ |
| language |
English |
| format |
Article |
| sources |
DOAJ |
| author |
Karine F. Meyer Luiz G. Freitas Filho Karina I. Silva Pedro A. Trauzcinsky Cristina Reuter Maria Beatriz M. Souza |
| spellingShingle |
Karine F. Meyer Luiz G. Freitas Filho Karina I. Silva Pedro A. Trauzcinsky Cristina Reuter Maria Beatriz M. Souza The XY female and SWYER syndrome Urology Case Reports |
| author_facet |
Karine F. Meyer Luiz G. Freitas Filho Karina I. Silva Pedro A. Trauzcinsky Cristina Reuter Maria Beatriz M. Souza |
| author_sort |
Karine F. Meyer |
| title |
The XY female and SWYER syndrome |
| title_short |
The XY female and SWYER syndrome |
| title_full |
The XY female and SWYER syndrome |
| title_fullStr |
The XY female and SWYER syndrome |
| title_full_unstemmed |
The XY female and SWYER syndrome |
| title_sort |
xy female and swyer syndrome |
| publisher |
Elsevier |
| series |
Urology Case Reports |
| issn |
2214-4420 |
| publishDate |
2019-09-01 |
| description |
Abtsract: SWYER syndrome or pure gonadal dysgenesis is a disease in which individuals with a female phenotype, with female external genital organs, have a 46 XY karyotype and streak gonads that ought to be removed given their high malignization potential. We present the case of a patient with Swyer syndrome, and compare them with other cases of patients with a 46 XY karyotype, phenotypically female, such as in Congenital Adrenal Hyperplasia from deficiency of the 17 α hydroxylase/17–20 Lyase enzyme and in the Congenital Androgenic Insensitivity Syndrome. Keywords: Swyer syndrome, Gonadal dysgenesis, Primary amenorrhea, 46 XY |
| url |
http://www.sciencedirect.com/science/article/pii/S2214442019302025 |
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