The XY female and SWYER syndrome

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,...

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Autores principales: Meyer, Karine F., Freitas Filho, Luiz G., Silva, Karina I., Trauzcinsky, Pedro A., Reuter, Cristina, Souza, Maria Beatriz M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2019
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6586948/
https://www.ncbi.nlm.nih.gov/pubmed/31275808
http://dx.doi.org/10.1016/j.eucr.2019.100939
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author Meyer, Karine F.
Freitas Filho, Luiz G.
Silva, Karina I.
Trauzcinsky, Pedro A.
Reuter, Cristina
Souza, Maria Beatriz M.
author_facet Meyer, Karine F.
Freitas Filho, Luiz G.
Silva, Karina I.
Trauzcinsky, Pedro A.
Reuter, Cristina
Souza, Maria Beatriz M.
author_sort Meyer, Karine F.
collection PubMed
description 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.
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spelling pubmed-65869482019-07-02 The XY female and SWYER syndrome Meyer, Karine F. Freitas Filho, Luiz G. Silva, Karina I. Trauzcinsky, Pedro A. Reuter, Cristina Souza, Maria Beatriz M. Urol Case Rep Pediatrics 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. Elsevier 2019-06-07 /pmc/articles/PMC6586948/ /pubmed/31275808 http://dx.doi.org/10.1016/j.eucr.2019.100939 Text en © 2019 The Authors http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Pediatrics
Meyer, Karine F.
Freitas Filho, Luiz G.
Silva, Karina I.
Trauzcinsky, Pedro A.
Reuter, Cristina
Souza, Maria Beatriz M.
The XY female and SWYER syndrome
title 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_short The XY female and SWYER syndrome
title_sort xy female and swyer syndrome
topic Pediatrics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6586948/
https://www.ncbi.nlm.nih.gov/pubmed/31275808
http://dx.doi.org/10.1016/j.eucr.2019.100939
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