"Gonadal Tumors in Individuals with Turner Syndrome and Y-Chromosome Mo" by Tazim Dowlut-McElroy, Jessica R. Long et al.
 

Gonadal Tumors in Individuals with Turner Syndrome and Y-Chromosome Mosaicism: A Retrospective Multisite Study

Tazim Dowlut-McElroy, Pediatric and Adolescent Gynecology, Department of Surgery, Children's Mercy Hospital, Kansas City, Missouri. Associate Professor of Obstetrics and Gynecology, University of Missouri-Kansas City School of Medicine. Electronic address: tdowlutmcelroy1@cmh.edu.
Jessica R. Long, Pediatric and Adolescent Gynecology, Department of Obstetrics and Gynecology and Minimally Invasive Surgery, The University of Chicago, Chicago, Assistant Professor of Obstetrics and Gynecology, Pritzker School of Medicine.
Allison C. Mayhew, Pediatric and Adolescent Gynecology, Department of Surgery, Children's National Hospital, Washington, D.C.
Ashli Lawson, Pediatric and Adolescent Gynecology, Department of Surgery, Children's Mercy Hospital, Kansas City, Missouri. Assistant Professor of Obstetrics and Gynecology, University of Missouri-Kansas City School of Medicine.
Y Frances Fei, Section of Pediatric and Adolescent Gynecology Nationwide Children's Hospital, Columbus, Ohio. Assistant Professor of Obstetrics and Gynecology, Ohio State University College of Medicine.
Anne K. Smith, Pediatric and Adolescent Gynecology, Yale New Haven Children's Hospital New Haven, Connecticut. Assistant Professor of Obstetrics, Gynecology & Reproductive Sciences, Yale School of Medicine.
Roopa Kanakatti Shankar, Department of Endocrinology, Children's National Hospital, Washington, D.C., Associate Professor of Pediatrics, George Washington University School of Medicine.
Veronica Gomez-Lobo, Pediatric and Adolescent Gynecology, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, Maryland.

Document Type

Journal Article

Publication Date

11-20-2024

Journal

Journal of pediatric and adolescent gynecology

DOI

10.1016/j.jpag.2024.11.005

Abstract

STUDY OBJECTIVE: To evaluate the prevalence of germ cell tumors and the clinical monitoring practices for those who deferred prophylactic gonadectomy in a large North American cohort of individuals with Turner syndrome with Y-chromosome mosaicism (TS+Y). METHOD: A query of the medical records at multiple North American children's hospitals was done using ICD codes related to Turner Syndrome. A retrospective chart review was conducted on those patients between ages 0 to 30 years with Y-mosaicism. RESULTS: The data of 57 participants were analyzed. Eight (25.8%, n=31) ≥ 13 years underwent spontaneous thelarche. One (3.2 %) had spontaneous menarche. Forty-seven (82.5%) had gonadectomy at a median age of 8 years (IQR 11.0, range <1 to 19 years). Sixteen (34%) had growth hormone therapy exposure prior to gonadectomy. Fourteen (29.8%) had gonadoblastoma. Two (4.3%) had dysgerminoma. Differences in age at gonadectomy, presence of the entire Y-chromosome, and exposure to growth hormone when comparing those with vs. without gonadal tumor were not statistically significant. Gonadectomy had not been performed in 10 individuals, median age 6.5 (IQR 9.0, range <1 to 14 years). There was no consistency in the plan for ultrasound and/or tumor markers for follow-up. CONCLUSIONS: Our data shows a prevalence of 24.6% of gonadal tumors in individuals with TS +Y and a relatively low risk of malignant transformation (3.5%). Prior exposure to growth hormone was not predictive of the presence of gonadal tumor. Future cytogenetic studies are needed to better understand the factors involved in the development of gonadal tumors.

Department

Pediatrics

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