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

Abstract

Gonadal dysgenesis is an embryonal disorder of the gonads. It can be pure (Turner’s syndrome) or mixed (mosaicism). The mixedform, which also has Y chromosome, is prone to the occurrence of gonadoblastomas in dysplastic gonads. In such children, it isindicated to make prophylactic bilateral gonadectomy before malignant transformation. Therefore, early diagnosis of mixedgonadal dysgenesis is important. However, children with gonadal dysgenesis have variable phenotype. In rare cases, these childrencannot be distinguished phenotypically at the pre-pubertal age from children with normal karyotype. We report on phenotypicallyunremarkable 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.