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Swyer Syndrome: A Case Report

Swyer syndrome is a rare form of primary amenorrhea resulting from gonadal dysgenesis. It is characterized by the presence of a female phenotype with a 46, XY karyotype. In our case, CT scans revealed the absence of the uterus and bilateral ovaries of the 16-year-old female patient. Calcific nodules...

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Detalles Bibliográficos
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Society of Radiology 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10585094/
https://www.ncbi.nlm.nih.gov/pubmed/37869128
http://dx.doi.org/10.3348/jksr.2023.0025
Descripción
Sumario:Swyer syndrome is a rare form of primary amenorrhea resulting from gonadal dysgenesis. It is characterized by the presence of a female phenotype with a 46, XY karyotype. In our case, CT scans revealed the absence of the uterus and bilateral ovaries of the 16-year-old female patient. Calcific nodules were found in both inguinal areas, which were suspected to be calcified atrophic testes. A chromosomal study confirmed the diagnosis of Swyer syndrome. Herein, we report a rare case of Swyer syndrome.