Balancing oncologic risk and fertility potential: a single-center study on Turner syndrome patients with Y chromosome...

Turner Syndrome (TS) is a chromosomal disorder characterized by partial or complete monosomy of the X chromosome. Approximately 5-10% of patients with TS harbor Y chromosome material, which is associated with an increased risk of gonadoblastoma and other gonadal malignancies. However, the indications and optimal timing of prophylactic gonadectomy remain controversial, particularly in asymptomatic individuals, because a subset of TS patients with Y chromosome material may retain residual gonadal function and fertility potential. This study aimed to determine the prevalence of Y chromosome material in TS patients, evaluate the associated risk of gonadal tumors, and assess fertility potential using molecular genetic techniques, thereby providing evidence to inform individualized clinical decision-making.

A total of 224 patients with TS diagnosed between 2016 and 2024 were enrolled. Molecular genetic techniques were utilized to identify Y-sequences. In Y-positive cases, we systematically analyzed gonadal tumor incidence via histopathology, endocrine profiles (FSH, LH, AMH), and pelvic imaging findings.

Y-chromosome material was identified in 11.6% (26/224) of patients. Among the 16 who underwent surgery, gonadal tumors were pathologically confirmed in 4 cases (25.0%), including a tumor in a patient with cryptic Y-material undetected by karyotyping. Importantly, preoperative pelvic ultrasonography failed to detect any definite masses in these tumor-positive cases. Endocrine profiling revealed an age-dependent decline in gonadal function: while prepubertal patients maintained uncertain endocrine activity, those in or beyond puberty exhibited hypergonadotropic hypogonadism. AMH levels indicated that the window for fertility potential is narrow and typically closes by early adolescence.

TS patients harboring Y-chromosome material face a significant risk of malignancy that cannot be reliably excluded by imaging alone. Our findings reinforce the necessity of early prophylactic gonadectomy. While individualized management may consider fertility preservation in select prepubertal patients, the rapid depletion of ovarian reserve necessitates proactive clinical decision-making.