Swyer Syndrome: An in-Depth Exploration of Phenotypic and Genotypic Features in 46, XY Disorders of Sex Development

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Published: Oct 26, 2023
DOI: https://doi.org/10.47191/ijmscrs/v3-i10-62
Keywords:
Swyer, syndrome, gonadal, dysgenesis.

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Daniela Alejandra Dávila Báez
Universidad Autónoma de Guadalajara, Guadalajara, Jalisco. México.
Valeria Macías Valadez García
Universidad Autónoma de Aguascalientes, Aguascalientes. México.
Luis Enrique Morales Montoya
Universidad autónoma de Sinaloa, Culiacán, Sinaloa. México.
Onassis Armando Prado Hernández
Universidad de Guadalajara, Centro Universitario de Ciencias de la Salud, Guadalajara, Jalisco. México.
Maria Guadalupe Campos Canelo
Universidad de Guanajuato, Guanajuato. México.
Leonardo Ramirez Nucamendi
Universidad Autónoma de Guadalajara, Guadalajara, Jalisco. México

Abstract

Swyer Syndrome, also known as 46, XY Complete Gonadal Dysgenesis, is a rare and intriguing disorder of sexual development characterized by a phenotypic female appearance in individuals possessing a 46,XY karyotype. This enigmatic condition results from a cascade of genetic and hormonal events, which ultimately lead to the absence of functional gonads, presenting a challenging diagnostic and therapeutic conundrum. In this comprehensive review, we delve into the intricate landscape of Swyer syndrome, elucidating its genetic underpinnings, clinical manifestations, diagnostic approaches, and contemporary management strategies. By consolidating current knowledge, this article aims to provide a valuable resource for healthcare professionals, geneticists, and researchers interested in unraveling the complexities of disorders of sex development and the genetic determinants of sexual differentiation.

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How to Cite
Daniela Alejandra Dávila Báez, Valeria Macías Valadez García, Luis Enrique Morales Montoya, Onassis Armando Prado Hernández, Maria Guadalupe Campos Canelo, & Leonardo Ramirez Nucamendi. (2023). Swyer Syndrome: An in-Depth Exploration of Phenotypic and Genotypic Features in 46, XY Disorders of Sex Development. International Journal of Medical Science and Clinical Research Studies, 3(10), 2451–2455. https://doi.org/10.47191/ijmscrs/v3-i10-62
Issue
Vol. 3 No. 10 (2023): Volume 03 Issue 10 October 2023
Section
Articles
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This work is licensed under a Creative Commons Attribution 4.0 International License.

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