Functional Ovarian Tissue in a Child With Mosaic Turner Syndrome and Y Chromosome Material: Case Report.
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INTRODUCTION: Prophylactic bilateral gonadectomy is typically recommended for girls with mosaic Turner syndrome with Y chromosome (TS + Y) due to risk for gonadoblastoma. However, reports demonstrating lower malignancy rates and cases of spontaneous puberty have prompted reconsideration. DESCRIPTION: An 8-year-old girl was found to have TS + Y, with genetic analysis showing absence of Y chromosome short arm material. Her anti-müllerian hormone declined over three months, indicating decrease in ovarian reserve. She underwent bilateral gonadectomy with ovarian tissue cryopreservation and was found to have functional ovarian tissue. CONCLUSION: In contrast to most TS + Y cases, our patient demonstrated functional ovarian tissue. Characterization of which Y chromosome segments are present may predict gonadal tissue type and gonadoblastoma risk, assisting decision-making regarding gonadectomy timing and the option for fertility preservation.