Introduction: Primary hypogonadism is stated as one of major features in patients with Turner Syndrome (TS), however it is not a constant finding. Variable markers of ovaries failure in TS patients are still missing. The present study aimed to evaluate the usefulness of atymullerian hormone and inhibin B assessment in predicting spontaneous puberty in patients with TS.
Methods: The study included 35 TS patients. Gonadal axis function (LH, FSH and estradiol levels) was evaluated at the age of physiological puberty (10-12 y.o), before introduction of hormonal replacement therapy. Additionally AMH and inhibin B levels were assessed. In follow up patients were divided into 2 groups: with spontaneous puberty (SP) and without (WP).
Results: Spontaneous puberty occurred in 16 patients at the mean age of 10 years (9-12 years). There were significant differences in levels of FSH (24.5 vs. 66.5, P=0.002), estradiol (28.4 vs 14.9, P=0.005), AMH (0.8 vs. 0.003 ng/mL, P=0,001) and inhibin B (29.1 vs. 1.06, P=0.026) in SP and WP patients. In three SP patients without elevated FSH level (FSH<35mIU/ml) AMH and inhibin B concentrations were zero. SP patients had mosaic (non 45, X) karyotype in 87,5 % (14/16) and monosomy (45, X) only in 12,5% (2/16). WP patients had mosaic (non 45, X) karyotype in 47 % (9/19) and monosomy in 53% (10/19).
Conclusion: AMH and Inhibin B levels seem to be a good marker of ovarian function in TS patient, especially in cases with discrepancy between clinical course of puberty and results of FSH and estradiol levels. Patients with non 45,X karyotype are more likely to develop spontaneous puberty.
19 - 21 Sep 2019
European Society for Paediatric Endocrinology