Prophylactic gonadectomy in children with mixed gonadal dysgenesis – a nine-year-old girl

Gonadna disgeneza embrionalna je anomalija gonada. Može biti čista (Turnerov sindrom) ili miješana (mozaicizam). Miješani oblik s lozom stanica u kojoj se nalazi Y spolni kromosom, sklon je pojavi gonadoblastoma u displastičnim gonadama. U takve djece indicirano je učiniti profi laktičku bilateralnu gonadektomiju, prije maligne alteracije. Stoga je važna rana dijagnoza miješane gonadne disgeneze. No djeca s gonadnom disgenezom različitih su fenotipskih osobina, katkad potpuno neupadljiva u predpubertetskoj dobi. U radu prikazujemo fenotipski neupadljivu, tek nešto nižeg rasta devetogodišnju djevojčicu s miješanom gonadnom disgenezom, kojoj smo načinili profi laktičku laparoskopsku gonadektomiju. Zaključno, miješana gonadna disgeneza može se očitovati jedino niskim rastom u djece predpubertetske dobi.Gonadal dysgenesis is an embryonal disorder of the gonads. It can be pure (Turner’s syndrome) or mixed (mosaicism). The mixed form, which also has Y chromosome, is prone to the occurrence of gonadoblastomas in dysplastic gonads. In such children, it is indicated to make prophylactic bilateral gonadectomy before malignant transformation. Therefore, early diagnosis of mixed gonadal dysgenesis is important. However, children with gonadal dysgenesis have variable phenotype. In rare cases, these children cannot be distinguished phenotypically at the pre-pubertal age from children with normal karyotype. We report on phenotypically unremarkable nine-year-old girl with short stature and mixed gonadal dysgenesis, submitted to prophylactic laparoscopic gonadectomy. In conclusion, short stature may be the only phenotypic sign of mixed gonadal dysgenesis in pre-pubertal children