Background: Turner syndrome (TS) patients typically exhibit short stature and gonadal dysgenesis with pubertal delay and infertility. Up to 30% of these girls will have spontaneous pubertal development, however only 2% achieve a spontaneous pregnancy. Biochemical markers reflecting the ovarian reserve in girls and adolescents with TS are therefore needed.
Objective and hypotheses: Evaluation of the ovarian reserve in girls and adolescents with TS using serum AMH and simultaneously comparing this value with other markers, including serum FSH, number of ovarian follicles on transabdominal gynecologic ultrasound and karyotype.
Method: Prospective study investigating TS girls followed at the Pediatric Endocrinology Unit of a Portuguese General Hospital between April and August 2013.
Results: Twenty girls aged 315 years were included (median age 10 years). Normal serum AMH levels were observed in 35% of TS girls. There was a strong correlation between AMH and FSH levels: all patients with normal serum AMH had also normal serum FSH whereas all girls with low serum AMH showed high serum FSH (P<0.001). Ovarian follicles were present in 86% of girls with normal AMH and absent in 69% with low serum AMH. Ovarian follicles were detectable in only 25% of girls with karyotype 45,X and in 67% with karyotype 45,X/46,XX or other cytogenetic abnormalities. Five girls showed spontaneous puberty, one of which had abnormal FSH and AMH levels despite detectable ovarian follicles.
Conclusion: Serum AMH correlated well with serum FSH and appears to be a useful marker of the follicle pool. Nevertheless, complementary imaging study is still needed. Karyotype is a good predictive marker of premature ovarian insufficiency when considered together with other parameters.
20 - 22 Sep 2014
European Society for Paediatric Endocrinology