| Title |
Early bilateral gonadoblastoma in a patient with mixed gonadal dysgenesis (karyotype 45,X/46,XY): case report and review of literature / |
| Authors |
Trainavičius, Ignas ; Dasevičius, Darius ; Burnytė, Birutė ; Kemežys, Robertas ; Verkauskas, Gilvydas |
| DOI |
10.15388/Amed.2022.29.2.5 |
| Full Text |
|
| Is Part of |
Acta medica Lituanica.. Vilnius : Vilniaus universiteto leidykla. 2022, vol. 29, no. 2, p. 194-200.. ISSN 1392-0138. eISSN 2029-4174 |
| Keywords [eng] |
Disorders of sex development ; gonadal dysgenesis ; mixed gonadal dysgenesis ; 45,X/46,XY mosaicism ; gonadoblastoma ; gonadectomy |
| Abstract [eng] |
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. |
| Published |
Vilnius : Vilniaus universiteto leidykla |
| Type |
Journal article |
| Language |
English |
| Publication date |
2022 |
| CC license |
|
