Objective: To present a challenging case of hCG positivity in a young patient and to review similar cases reported in the literature.
Methods: Literature search of gonadoblastoma cases with pure 46, XX karyotype using PubMed database.
Results: A 15-year-old girl with hCG positivity was investigated for the source and the initial diagnosis was an ectopic pregnancy. An ovarian tumor was identified after failed methotrexate therapy and the pathological diagnosis was gonadoblastoma with dysgerminoma. To the best of our knowledge, the case was unique in the literature for having the smallest diameter of a gonadoblastoma tumor with 46, XX karyotype.
Conclusion: Differential diagnosis of perimenarcheal vaginal bleeding may be challenging for the clinician. Rare causes such as pregnancy both intrauterine and extrauterine and hormone producing tumors should be kept in mind.