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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Detalles Bibliográficos
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
Descripción
Sumario: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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