Background: Gonadal dysgenesis in Turner syndrome (TS) results in pubertal delay or failure and infertility in most patients. However, up to 30% of girls with TS have spontaneous pubertal development and 25% have regular menstrual cycles before the onset of premature menopause. Serum anti-Mullerian (AMH) levels reflect the ovarian reserve in females, even in childhood.
Objective and hypotheses: To Asses serum AMH levels in patients with TS and its relation to karyotype, spontaneous puberty, and GH therapy.
Methods: Fifty TS patients were subjected to history, auxologic assessment and Tanner staging. Karyotype was obtained from patients records. In addition, serum AMH, FSH and LH and oestradiol (E2) were measured. Pelvic ultrasound was done to assess uterine and ovarian volumes and fundic:cervical ratio.
Results: Serum AMH was detectable in 24% of all TS girls and correlated strongly with karyotypes. A measurable serum AMH was found in 75% of TS girls with karyotype 45X/46XX, in 21% with other karyotypes and in 8% of 45X TS girls. A measurable serum AMH was also associated with signs of spontaneous puberty such as breast development (OR: 18.4; 95% CI 3.1117.6; P=0.003) and menarche (OR 37.5; 95% CI 5.6401.9; P=0.001). Serum AMH correlated negatively with FSH and LH, but did not correlate with E2. GH therapy increased the odds of having measurable AMH in TS girls (OR 6.1; 95% CI 2.85.8; P=0.002).
Conclusions: Serum AMH levels could serve as a useful marker of the follicle pool and therefore ovarian function in paediatric patients with TS. Further studies are warranted to confirm the effect of GH therapy on AMH levels.
01 - 03 Oct 2015
European Society for Paediatric Endocrinology