Fertility counseling and preservation discussions for females with Turner syndrome in pediatric centers: practice patterns and predictors

Objective To examine fertility counseling and fertility preservation (FP) referrals for young women with Turner syndrome (TS) at pediatric centers and identify possible associations with patient demographic and medical characteristics. Design Retrospective medical record review. Setting Pediatric academic medical centers. Patient(s) Four hundred and sixty-nine young women with TS (mean age = 14 years, standard deviation 8.5 years; 77% white) who received care between March 2013 and March 2018. Intervention(s) None. Main Outcome Measure(s) Standardized form to abstract demographics, medical (karyotype; menarchal status; developmental, neuropsychological, and psychological concerns), and treatment characteristics (duration of care, receipt of multidisciplinary care, documentation of fertility/pregnancy counseling, FP specialist referrals) from medical records. Result(s) We found that 67% of families had documented fertility counseling, although only 27% of charts documented counseling with patients specifically. Only 10% of patients were referred to a FP specialist; 59% of patients with spontaneous menarche had no referral. Pregnancy risk counseling was documented in 38% of charts. In multivariate analyses, families were more likely to receive counseling if the patients had multidisciplinary care (adjusted odds ratio [AOR] 2.82). Greater duration of care (AOR 1.16); mosaic (AOR 47.94), complex (AOR 14.59), or partial deletions karyotypes (AOR 35.69); spontaneous menarche (AOR 4.65); and multidisciplinary care (AOR 4.02) had increased odds of FP specialist referrals. Patients with developmental concerns (AOR 0.08) had decreased odds of referrals. Conclusion(s) Fertility and pregnancy counseling are not routinely documented among patients with TS, and even patients with a limited window of reproductive potential were infrequently referred to FP specialists. Patients seen in multidisciplinary clinics were more likely to receive recommended counseling.