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Case Reports
. 2022;29(2):194-200.
doi: 10.15388/Amed.2022.29.2.5. Epub 2022 Jun 29.

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

Ignas Trainavičius  1 , Darius Dasevičius  2 , Birutė Burnytė  3 , Robertas Kemežys  4 , Gilvydas Verkauskas  1
Affiliations
Case Reports

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

Ignas Trainavičius et al. Acta Med Litu. 2022.

Abstract
in English, Lithuanian

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.

Mišri lytinių liaukų disgenezė yra reta įgimta ir sudėtinga būklė, kuriai būdingas 45,X/46,XY mozaikinis kariotipas, asimetrinis lytinių liaukų vystymasis ir įvairialypė vidinių ir išorinių lytinių organų anatomija. Dėl didesnės lytinių ląstelių neoplazijos rizikos ir kitų svarbių veiksnių šių pacientų gydymas yra sudėtingas ir reikia daugiadisciplininio požiūrio.

Atvejis: Pristatome 45,X/46,XY mišrios lytinių liaukų disgenezės atvejį, kai po abipusės gonadektomijos Vienų metų amžiaus pacientui diagnozuota abiejų lytinių liaukų gonadoblastoma.

Išvados: Dėl didelės piktybinės transformacijos rizikos pašalinti ruoželinę gonadą ir atlikti disgenetiškos sėklidės biopsiją ir nuleidimą arba pašalinimą rekomenduojama ankstyvame amžiuje.

Keywords: 45,X/46,XY mosaicism; Disorders of sex development; Gonadal dysgenesis; Gonadectomy; Gonadoblastoma; Mixed gonadal dysgenesis.

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Figures

Figure 1.
Figure 1.. Histology of the right gonad: streak gonad with gonadoblastoma.
Figure 2.
Figure 2.. Right gonad gonadoblastoma immunohistochemistry: Germ cells: SALL4 (Spalt-like transcription factor 4) – positive, PLAP (placental-like alkaline phosphatase) – positive, WT1 (Wilms tumor 1) – negative, Inhibin – negative; Sex cord cells: SALL4 (Spalt-like transcription factor 4) – negative, PLAP (placental-like alkaline phosphatase) – negative, WT1 (Wilms tumor 1) – positive, Inhibin – positive.
See this image and copyright information in PMC

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