Minipuberty in girls with Turner syndrome provides insight into reproductive potential – a prospective cohort study

To study reproductive hormone levels during minipuberty in girls with Turner syndrome and compare with girls without Turner syndrome. Prospective cohort study SUBJECTS: Infant girls with Turner syndrome. Blood samples were drawn at three months and nine months of age for analysis of reproductive hormones. Karyotype was analyzed in 30 lymphocytes and if available in 100 buccal cells. Hormone levels in girls with Turner syndrome were compared with reference values of a control group. Follicle stimulating hormone (FSH), luteinizing hormone (LH), estradiol, anti-Müllerian hormone (AMH), inhibin B and testosterone. Fourteen girls with 45,X, five girls with 45,X/46,XX, and four girls with a structural aberration of the X-chromosome were included. FSH and LH were significantly higher, and estradiol, AMH, and inhibin B levels were significantly lower in girls with Turner syndrome compared to reference values at both time points. Girls with Turner syndrome with undetectable AMH levels had increasing gonadotropins after three months, while in girls with Turner syndrome and detectable AMH-levels, gonadotropins decreased after three months to levels within the reference range. HPG axis hormones during minipuberty in girls with Turner syndrome differ from reference values. The window for assessing ovarian function extends beyond three months of age, as gonadotropin levels tend to increase in cases with absent ovarian activity, as demonstrated by undetectable AMH, inhibin B and estradiol.