Current Practices in Fertility-Based Counseling Among Individuals With Turner Syndrome: A Retrospective Study - 10/07/25

Abstract |
Study Objective |
To evaluate current practices and examine patient and provider characteristics associated with delivery of fertility-based counseling and pursuit of autologous oocyte cryopreservation or embryo cryopreservation among individuals with Turner syndrome (TS) at a large academic institution.
Methods |
A retrospective study was conducted between January 2010 and December 2020, involving phenotypically female individuals aged 0-26 years with TS.
Results |
Of 108 included individuals with TS, 65 (60.19%) were classified as monosomy X, and 43 (39.81%) were classified as having TS with another karyotype. Individuals with monosomy X were more likely to have cardiac anomalies, hypertension, and low bone density compared to individuals with TS with other karyotypes. Rates of other comorbidities were similar between groups. Thirty patients (27.78%) received fertility and/or fertility preservation (FP) counseling, of which six (5.56%) pursued autologous assisted reproduction technology (ART). A multidisciplinary group of providers offered counseling. Individuals with other TS karyotypes were more likely to receive counseling compared to individuals with monosomy X (43.59% vs 22.03%, P = .027). Counseling was significantly associated with pursuing ART (20.00% vs 0%, P < .001). Other factors, such as race, ethnicity, and cardiac anomalies, were not associated with the receipt of counseling.
Conclusion |
Approximately one-third of individuals with TS received fertility and/or FP counseling, and only few pursued controlled ovarian hyperstimulation. Our large cohort study underscores the need for standardized, system-wide measures to deliver fertility counseling to individuals with TS, including the development of a dedicated multidisciplinary program. Further investigations are necessary to evaluate the effectiveness of proficiency in delivering FP counseling to individuals with TS.
Le texte complet de cet article est disponible en PDF.Key Words : Turner syndrome, Mosaic Turner syndrome, Fertility preservation, Assisted reproduction, Differences/variations of sex development (DSD/VSD), Primary ovarian insufficiency
Plan
Vol 38 - N° 4
P. 474-480 - août 2025 Retour au numéroBienvenue sur EM-consulte, la référence des professionnels de santé.
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