In a prospective multicentre cohort of 23 infant girls with Turner syndrome, investigators have shown that hormone patterns during “minipuberty” may offer an early window into ovarian reserve and future reproductive potential. Blood sampling at 3 and 9 months revealed striking divergence from reference values in girls without Turner syndrome.
Minipuberty as a window on the HPG axis
Minipuberty represents a transient activation of the hypothalamus–pituitary–gonadal axis in infancy, when rising gonadotropins stimulate follicle maturation and estradiol production.
In this study, girls with Turner syndrome had markedly higher follicle-stimulating hormone and luteinizing hormone levels and lower estradiol, antimüllerian hormone, and inhibin B than controls at both time points, consistent with impaired ovarian feedback.
AMH distinguishes ovarian activity in Turner syndrome
A key signal emerged around antimüllerian hormone. Fifteen of 23 girls had undetectable AMH; in this group, gonadotropins rose further between 3 and 9 months, with follicle-stimulating hormone often exceeding 100 U/L, suggesting limited granulosa-cell activity and diminished ovarian reserve.
In contrast, girls with detectable AMH showed falling follicle-stimulating hormone and luteinizing hormone into the normal reference range, indicating preserved ovarian function despite Turner genotype. Detectable AMH was seen in all mosaic 45,X/46,XX cases and some with structural X abnormalities, whereas girls with monosomy 45,X almost uniformly had undetectable AMH by 9 months.
Implications for early counselling and preservation strategies
The authors propose that hormone profiling during minipuberty, particularly AMH combined with gonadotropins, could help stratify reproductive potential in infants with Turner syndrome and refine the timing and feasibility of fertility preservation.
However, they caution that longer-term follow-up through puberty and adulthood is required before translating these markers into firm clinical cut-offs or decisions about oocyte or ovarian tissue cryopreservation.
Reference
Coelen VDS et al. Minipuberty in girls with Turner syndrome provides insight into reproductive potential—a prospective cohort study. Fertil Steril. 2025;124(6):1314–23.
