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Peer-reviewedCC BY 4.0Frontiers in Pediatrics

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

  • Tianyi Wang1
  • Guangqi Zeng2
  • Xu Cao1
  • Hongliang Xia1
  • Ting Zhang1
  • Xiangming Yan1
  • Mingcui Fu1
  1. 1Department of Urology, Children’s Hospital of Soochow University, Suzhou, Jiangsu, China
  2. 2Department of Pediatric Surgery, Qinghai Provincial Maternal and Child Health Hospital, Xining, Qinghai, China
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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.

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Cite

BibTeXRIS
BibTeX
@article{wang2026turner,
  title = {{Turner mosaic syndrome with Y chromosome material: characteristics, diagnosis, and management}},
  author = {Tianyi Wang and Guangqi Zeng and Xu Cao and Hongliang Xia and Ting Zhang and Xiangming Yan and Mingcui Fu},
  journal = {Frontiers in Pediatrics},
  year = {2026},
  month = oct,
  doi = {10.3389/fped.2026.1948778},
  url = {https://doi.org/10.3389/fped.2026.1948778},
  note = {CC BY 4.0},
}
RIS
TY  - JOUR
TI  - Turner mosaic syndrome with Y chromosome material: characteristics, diagnosis, and management
AU  - Tianyi Wang
AU  - Guangqi Zeng
AU  - Xu Cao
AU  - Hongliang Xia
AU  - Ting Zhang
AU  - Xiangming Yan
AU  - Mingcui Fu
PY  - 2026
DA  - 2026/10/21
JO  - Frontiers in Pediatrics
DO  - 10.3389/fped.2026.1948778
UR  - https://doi.org/10.3389/fped.2026.1948778
AB  - 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.
SN  - 2296-2360
ER  -