ESPE Abstracts

Background: Turner Syndrome (TS) is a chromosomal abnormality in females. Primary gonadal failure occurs in most individuals with TS, it is not a constant finding. The data regarding different patterns of pubertal development is limited, and no study performed a comprehensive clinical, hormonal, and imaging evaluation of TS girls throughout the pubertal period.

Subjects and Methods: The medical records of 54 girls diagnosed with TS by chromosome karyotype and had secondary sex characteristics from January 1, 2003 to December 31, 2023 were retrospectively analyzed. We assessed clinical information, luteinizing hormone (LH), follicle-stimulating hormone (FSH), estradiol (E2), Anti-Mullerian hormone (AMH), uterine ultrasound results and hormone replacement therapy (HRT) among the spontaneous puberty, arrested puberty and no spontaneous puberty groups.

Results: Spontaneous puberty, arrested puberty and no spontaneous puberty was noticed in 11/54, 22/54, 21/54, respectively. In girls with spontaneous puberty, the mean age was 11.60 ± 1.43 years at Tanner stage 2, 11.50 (10.88, 13.63) years at Tanner stage 3, and 12.67 (12.25, 15.42) years at Tanner stage 4. Menarche occurred significantly earlier in girls with spontaneous puberty (13.62±1.9) years compared with that in the arreted puberty group (17.33±1.72 years; P = 0003) or no spontaneous puberty group (18.89±2.19 years; n = 14; P = 0001). No pubertal height surge observed in the three groups. The length and volume of uterus gradually showed differences after the B2 stage among three groups. Additionally, a statistically significant correlation between estrogen dosage and uterine parameters in the no spontaneous puberty group during breast development stages 2 and 3(B2: P = 0.012, 0.005; B3: P = 0.001, ＜0.001) was observed. Girls in the spontaneous puberty group exhibited significantly lower LH and FSH levels compared to those in the arrested puberty group or the no spontaneous puberty group at Tanner stage 1-3(P ＜0.001) and the difference was not observed in the level of E2. The proportion of AMH ≥ 0.07ng/ml in spontaneous puberty group and induced group (arrested and no spontaneous groups) was 6/10 and 4/25, respectively (P = 0.009).

Conclusion: Our study shows that the different puberty patterns of TS girls have a different impact on puberty development, uterine development, sex hormone level except for puberty growth, which may assist a better understanding of the intrinsic characteristics of TS and could guide medical practitioners toward earlier identification of POI.