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Late Diagnosis of Swyer Syndrome in a Patient with Bilateral Germ Cell Tumor Treated with a Contraceptive Due to Primary Amenorrhea

Swyer syndrome is a special form of DSD (disorders of sex development), so-called pure gonadal dysgenesis with a karyotype 46, XY and a female phenotype. One of the most important problems in patients with DSD is the risk of gonadal tumors. We present a case of a 26-year-old patient with Swyer syndr...

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Autores principales: Sowińska-Przepiera, Elżbieta, Krzyścin, Mariola, Przepiera, Adam, Brodowska, Agnieszka, Malanowska, Ewelina, Kozłowski, Mateusz, Cymbaluk-Płoska, Aneta
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9916373/
https://www.ncbi.nlm.nih.gov/pubmed/36767504
http://dx.doi.org/10.3390/ijerph20032139
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author Sowińska-Przepiera, Elżbieta
Krzyścin, Mariola
Przepiera, Adam
Brodowska, Agnieszka
Malanowska, Ewelina
Kozłowski, Mateusz
Cymbaluk-Płoska, Aneta
author_facet Sowińska-Przepiera, Elżbieta
Krzyścin, Mariola
Przepiera, Adam
Brodowska, Agnieszka
Malanowska, Ewelina
Kozłowski, Mateusz
Cymbaluk-Płoska, Aneta
author_sort Sowińska-Przepiera, Elżbieta
collection PubMed
description Swyer syndrome is a special form of DSD (disorders of sex development), so-called pure gonadal dysgenesis with a karyotype 46, XY and a female phenotype. One of the most important problems in patients with DSD is the risk of gonadal tumors. We present a case of a 26-year-old patient with Swyer syndrome. The patient had primary amenorrhea and no puberty characteristics. In ultrasound imaging in the vicinity of the uterus, there were two homogeneous structures. A genetic diagnosis was also performed, which showed karyotype 46, XY. The patient underwent a bilateral gonadectomy. Histopathological examination revealed the presence of dysgerminoma in both dysgenetic gonads. The follow-up of five years now did not show any changes suspected of invasion. We concluded that the primary amenorrhea, along with the absence of development of sexual characteristics, should prompt an expanded diagnosis for disorders of sex development. Gonadal dysgerminoma should be suspected even in the absence of tumor features on ultrasound and blood laboratory tests. Early prophylactic gonadectomy could protect patients from developing tumors in dysgenetic gonads.
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spelling pubmed-99163732023-02-11 Late Diagnosis of Swyer Syndrome in a Patient with Bilateral Germ Cell Tumor Treated with a Contraceptive Due to Primary Amenorrhea Sowińska-Przepiera, Elżbieta Krzyścin, Mariola Przepiera, Adam Brodowska, Agnieszka Malanowska, Ewelina Kozłowski, Mateusz Cymbaluk-Płoska, Aneta Int J Environ Res Public Health Case Report Swyer syndrome is a special form of DSD (disorders of sex development), so-called pure gonadal dysgenesis with a karyotype 46, XY and a female phenotype. One of the most important problems in patients with DSD is the risk of gonadal tumors. We present a case of a 26-year-old patient with Swyer syndrome. The patient had primary amenorrhea and no puberty characteristics. In ultrasound imaging in the vicinity of the uterus, there were two homogeneous structures. A genetic diagnosis was also performed, which showed karyotype 46, XY. The patient underwent a bilateral gonadectomy. Histopathological examination revealed the presence of dysgerminoma in both dysgenetic gonads. The follow-up of five years now did not show any changes suspected of invasion. We concluded that the primary amenorrhea, along with the absence of development of sexual characteristics, should prompt an expanded diagnosis for disorders of sex development. Gonadal dysgerminoma should be suspected even in the absence of tumor features on ultrasound and blood laboratory tests. Early prophylactic gonadectomy could protect patients from developing tumors in dysgenetic gonads. MDPI 2023-01-24 /pmc/articles/PMC9916373/ /pubmed/36767504 http://dx.doi.org/10.3390/ijerph20032139 Text en © 2023 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Case Report
Sowińska-Przepiera, Elżbieta
Krzyścin, Mariola
Przepiera, Adam
Brodowska, Agnieszka
Malanowska, Ewelina
Kozłowski, Mateusz
Cymbaluk-Płoska, Aneta
Late Diagnosis of Swyer Syndrome in a Patient with Bilateral Germ Cell Tumor Treated with a Contraceptive Due to Primary Amenorrhea
title Late Diagnosis of Swyer Syndrome in a Patient with Bilateral Germ Cell Tumor Treated with a Contraceptive Due to Primary Amenorrhea
title_full Late Diagnosis of Swyer Syndrome in a Patient with Bilateral Germ Cell Tumor Treated with a Contraceptive Due to Primary Amenorrhea
title_fullStr Late Diagnosis of Swyer Syndrome in a Patient with Bilateral Germ Cell Tumor Treated with a Contraceptive Due to Primary Amenorrhea
title_full_unstemmed Late Diagnosis of Swyer Syndrome in a Patient with Bilateral Germ Cell Tumor Treated with a Contraceptive Due to Primary Amenorrhea
title_short Late Diagnosis of Swyer Syndrome in a Patient with Bilateral Germ Cell Tumor Treated with a Contraceptive Due to Primary Amenorrhea
title_sort late diagnosis of swyer syndrome in a patient with bilateral germ cell tumor treated with a contraceptive due to primary amenorrhea
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9916373/
https://www.ncbi.nlm.nih.gov/pubmed/36767504
http://dx.doi.org/10.3390/ijerph20032139
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