The role of hormonal markers in predicting reproductive lifespan in girls with Turner syndrome- a retrospective study

Context Early prediction of ovarian reserve is essential to improve fertility counseling in girls with Turner syndrome (TS). Objective To examine the occurrence of puberty and longitudinal hormone patterns in girls with TS, and to take an initial step toward developing a prediction model for ovarian function. Main Outcome Measures Thelarche, menarche, and age of premature ovarian insufficiency (POI). Methods A retrospective cohort study of females with TS. Levels of serum follicle stimulating hormone (FSH), luteinizing hormone (LH), anti-Mullerian hormone (AMH), inhibin B, and information on karyotype and puberty were extracted from the medical records. A joint model combining a cox survival model and two linear mixed effects models for FSH and AMH was used to model the association between POI and longitudinal hormone values. Results A total of 365 girls were included, of whom 287 had available data on pubertal development. In this patient cohort, 43% had monosomy 45,X, 17% had mosaic 45,X/46,XX, 18% had an isochromosome X, and 22% had an ‘other’ karyotype in lymphocytes. Girls with spontaneous puberty had lower FSH and higher AMH before the age of eight years compared to girls without spontaneous puberty. The joint model showed that lower AMH is significantly related to POI, while FSH was not significantly related to POI. The individual predicted risks on POI come with large uncertainty. Conclusions AMH and FSH patterns contribute to understanding ovarian reserve at an early age in girls with TS. Creating a prediction model remained challenging and more data are needed.