Functional Ovarian Tissue in a Child With Mosaic Turner Syndrome and Y Chromosome Material: Case Report.
Vanessa Hwu, Carolyn Brookhart, Margaret Brunette et al.
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Case in brief
An 8-year-old girl with mosaic Turner syndrome and Y chromosome material presented with declining anti-müllerian hormone levels, indicating reduced ovarian reserve. She underwent bilateral gonadectomy with ovarian tissue cryopreservation, revealing functional ovarian tissue. This finding contrasts with typical cases, where such functionality is not expected, highlighting the complexity of management in TS + Y patients.
What made this case unusual
The presence of functional ovarian tissue in a patient with mosaic Turner syndrome and Y chromosome material is atypical, as most cases do not exhibit this characteristic.
Diagnostic / clinical pearl
Clinicians should consider the specific Y chromosome segments present in patients with mosaic Turner syndrome, as they may influence the risk of gonadoblastoma and the potential for functional ovarian tissue.
Why it matters
Understanding the relationship between Y chromosome material and ovarian function can guide management decisions regarding gonadectomy and fertility preservation in affected patients.