Early Bilateral Gonadoblastoma in a Patient with Mixed Gonadal Dysgenesis (Karyotype 45,X/46,XY): Case Report and Review of Literature

BACKGROUND: Mixed gonadal dysgenesis is a rare congenital and challenging condition, characterized mainly by 45,X/46,XY karyotype mosaicism, asymmetrical gonadal development and various internal and external genital anatomy. Because of frequent disorder of genital development and a higher risk of ge...

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Autores principales: Trainavičius, Ignas, Dasevičius, Darius, Burnytė, Birutė, Kemežys, Robertas, Verkauskas, Gilvydas
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Vilnius University Press 2022
Materias:
Case Studies
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9799003/
https://www.ncbi.nlm.nih.gov/pubmed/37733428
http://dx.doi.org/10.15388/Amed.2022.29.2.5
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author Trainavičius, Ignas
Dasevičius, Darius
Burnytė, Birutė
Kemežys, Robertas
Verkauskas, Gilvydas
author_facet Trainavičius, Ignas
Dasevičius, Darius
Burnytė, Birutė
Kemežys, Robertas
Verkauskas, Gilvydas
author_sort Trainavičius, Ignas
collection PubMed
description BACKGROUND: Mixed gonadal dysgenesis is a rare congenital and challenging condition, characterized mainly by 45,X/46,XY karyotype mosaicism, asymmetrical gonadal development and various internal and external genital anatomy. Because of frequent disorder of genital development and a higher risk of germ cell neoplasia, management of these patients is complex and requires multidisciplinary approach. CASE: We present a 45,X/46,XY mixed gonadal dysgenesis patient diagnosed with gonadoblastoma in both gonads after bilateral gonadectomy at 1 year of age. CONCLUSIONS: Because of high risk for malignant transformation, gonadectomy of a streak-like gonad and biopsy with orchidopexy or gonadectomy of a dysgenetic testicle is recommended at an early age.
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spelling pubmed-97990032023-01-03 Early Bilateral Gonadoblastoma in a Patient with Mixed Gonadal Dysgenesis (Karyotype 45,X/46,XY): Case Report and Review of Literature Trainavičius, Ignas Dasevičius, Darius Burnytė, Birutė Kemežys, Robertas Verkauskas, Gilvydas Acta Med Litu Case Studies BACKGROUND: Mixed gonadal dysgenesis is a rare congenital and challenging condition, characterized mainly by 45,X/46,XY karyotype mosaicism, asymmetrical gonadal development and various internal and external genital anatomy. Because of frequent disorder of genital development and a higher risk of germ cell neoplasia, management of these patients is complex and requires multidisciplinary approach. CASE: We present a 45,X/46,XY mixed gonadal dysgenesis patient diagnosed with gonadoblastoma in both gonads after bilateral gonadectomy at 1 year of age. CONCLUSIONS: Because of high risk for malignant transformation, gonadectomy of a streak-like gonad and biopsy with orchidopexy or gonadectomy of a dysgenetic testicle is recommended at an early age. Vilnius University Press 2022 2022-06-29 /pmc/articles/PMC9799003/ /pubmed/37733428 http://dx.doi.org/10.15388/Amed.2022.29.2.5 Text en Copyright © 2022 Ignas Trainavičius, Darius Dasevičius, Birutė Burnytė, Robertas Kemežys, Gilvydas Verkauskas. Published by Vilnius University Press. https://creativecommons.org/licenses/by/4.0/This is an Open Access article distributed under the terms of the Creative Commons Attribution License (https://creativecommons.org/licenses/by/4.0/) , which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Case Studies
Trainavičius, Ignas
Dasevičius, Darius
Burnytė, Birutė
Kemežys, Robertas
Verkauskas, Gilvydas
Early Bilateral Gonadoblastoma in a Patient with Mixed Gonadal Dysgenesis (Karyotype 45,X/46,XY): Case Report and Review of Literature
title Early Bilateral Gonadoblastoma in a Patient with Mixed Gonadal Dysgenesis (Karyotype 45,X/46,XY): Case Report and Review of Literature
title_full Early Bilateral Gonadoblastoma in a Patient with Mixed Gonadal Dysgenesis (Karyotype 45,X/46,XY): Case Report and Review of Literature
title_fullStr Early Bilateral Gonadoblastoma in a Patient with Mixed Gonadal Dysgenesis (Karyotype 45,X/46,XY): Case Report and Review of Literature
title_full_unstemmed Early Bilateral Gonadoblastoma in a Patient with Mixed Gonadal Dysgenesis (Karyotype 45,X/46,XY): Case Report and Review of Literature
title_short Early Bilateral Gonadoblastoma in a Patient with Mixed Gonadal Dysgenesis (Karyotype 45,X/46,XY): Case Report and Review of Literature
title_sort early bilateral gonadoblastoma in a patient with mixed gonadal dysgenesis (karyotype 45,x/46,xy): case report and review of literature
topic Case Studies
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9799003/
https://www.ncbi.nlm.nih.gov/pubmed/37733428
http://dx.doi.org/10.15388/Amed.2022.29.2.5
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