Summary
Introduction
Patients with Turner syndrome who harbor Y chromosome material are known to be at
increased risk of developing germ cell neoplasms. The optimal timing to perform gonadectomy
to reduce the risk of cancer development in these patients is not well defined. We
present outcomes of Turner with a Y component (TSY) patients who underwent gonadectomy
at our institution.
Hypothesis/objective
We hypothesized that tumors could occur in a significant portion of TSY patients at
any age and gonadectomy can be safely performed at diagnosis rather than deferred.
Study design
We performed an IRB-approved retrospective single center study in which we queried
our institutions electronic health record to identify all patients with TSY who underwent
gonadectomy at our institution from 2012 to 2021.
Results
In our series of 18 consecutive TSY patients, a tumor was identified in 6 patients
(33.3%): 4 (22.2%) with dysgerminoma (DG) [Figure 1] and 2 (11.1%) with gonadoblastoma (GB).
Discussion
Our cohort of 18 consecutive TSY who underwent gonadectomy over a 9-year period is
the largest published single site cohort to date. Additionally, our patient who was
found to have GB at 40 days is to our knowledge the youngest TSY patient to be diagnosed
with GB in the literature. This patient’s remarkably early incidence of tumor occurrence
illustrates the urgency of protective gonadectomy. Given the high incidence of tumor
formation in this population and the minimal morbidity associated with gonadectomy,
we do not recommend delaying gonadectomy in this population for any reason. Our study
is vulnerable to selection bias and confounding innate to any retrospective study.
There was variation with respect to the frequency and timing of pre-operative imaging
as a strict preoperative imaging protocol with sequential studies was not in place
at our institution. Additionally, we do not have a comparison cohort of patients who
are being followed without operative intervention as all TSY patients at our institution
have undergone gonadectomy.
Conclusion
TSY patients cannot be safely observed for tumor formation based on clinical factors
such as imaging or age. Gonadectomy is safe with a low complication rate and without
tumor recurrence during three-year follow-up. We continue to recommend bilateral gonadectomy
in this patient population at the time of diagnosis.
Keywords
Abbreviations:
Turner with a Y component ((TSY)), Dysgerminoma ((DG)), Gonadoblastoma ((GB).), Differences of Sex Development ((DSD)To read this article in full you will need to make a payment
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Article info
Publication history
Accepted:
December 19,
2022
Received in revised form:
November 4,
2022
Received:
July 21,
2022
Publication stage
In Press Journal Pre-ProofIdentification
Copyright
© 2022 Journal of Pediatric Urology Company. Published by Elsevier Ltd. All rights reserved.
