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

Ignas Trainavičius,Darius Dasevičius, Birutė Burnytė, Robertas Kemežys,Gilvydas Verkauskas

Acta medica Lituanica(2022)

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摘要
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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关键词
Disorders of sex development,Gonadal dysgenesis,Mixed gonadal dysgenesis,45,X/46,XY mosaicism,Gonadoblastoma,Gonadectomy
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