Unexpected Virilization in a Patient with Turner Syndrome with Unbalanced Y/7 Translocation in the Gonadal Tissue: Gonadoblastoma Diagnosis.
Elżbieta Marczak, Maria Szarras-Czapnik, Małgorzata Walewska-Wolf et al.
✦ AI-curated · Sources linked
Case in brief
An 18-year-old girl with Turner syndrome presented with virilization at age 12, alongside short stature and severe intellectual disability. Laboratory tests indicated hypergonadotropic hypogonadism with elevated testosterone levels, but imaging did not reveal gonads. A bilateral gonadectomy uncovered streak gonad tissue and testicular tissue with intratubular germ cell neoplasia and focal gonadoblastoma, confirmed by high-resolution cytogenetics showing gonadal mosaicism.
What made this case unusual
The presence of unbalanced Y/7 translocation in gonadal tissue, which was not detectable in peripheral blood lymphocytes, contributed to the patient's virilization and cancer risk.
Diagnostic / clinical pearl
Clinicians should consider the possibility of gonadal mosaicism in Turner syndrome patients presenting with unexplained virilization, as standard karyotyping may miss critical findings.
Why it matters
This case underscores the importance of high-resolution genomic methods and timely surgical intervention in managing cancer risk in patients with Turner syndrome.