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Turner mosaic syndrome with Y chromosome material: characteristics, diagnosis, and management

Year: 2026

Type: article

Abstract: Objective: This study investigated the clinical features and long-term outcomes of patients with Turner mosaic syndrome with Y chromosome material (TMSY), focusing on the prevalence of gonadoblastoma. Methods: Clinical data of children with TMSY were retrospectively collected, covering age, assigned sex, chief complaint, external genital phenotype, karyotype, FISH, sex hormones, imaging, age at gonadectomy, gonadal histology and prognosis. Results: Fifteen patients with TMSY were enrolled. The average follow-up was 47.33 months. All children were raised as females with female-like genitalia. Karyotyping diagnosed 9 (60%) patients, and FISH confirmed 6 (40%). 13 patients underwent gonadectomy, revealing gonadoblastoma in 4 (30.77%) cases, while 2 were monitored regularly. Growth hormone therapy was administered to 12 (80%) patients until they reached a satisfactory height. Conclusions: In our cohort, the prevalence of gonadoblastoma among patients with TMSY reached 30.77%. Given the favorable prognosis of gonadoblastoma, prophylactic gonadectomy is advised for patients with TMSY after a certain age to support spontaneous puberty and menstruation, enhancing patient involvement in clinical decisions.

Source: Frontiers in Pediatrics

DOI: 10.3389/fped.2026.1948778