The predictive value of AMH and FSH concerning spontaneous vs induced puberty: a retrospective, longitudinal study of 50 girls with Turner Syndrome

Christine Baggesgaard; Fischer Margit Bistrup; Marie Ljubicic; Anette Tonnes  Pedersen; Katharina M. Main; Casper Hagen

doi:10.1530/endoabs.110.RC5.5

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Endocrine Abstracts (2025) 110 RC5.5 | DOI: 10.1530/endoabs.110.RC5.5

ECEESPE2025 Rapid Communications Rapid Communications 5: Reproductive and Developmental Endocrinology Part 1 (6 abstracts)

The predictive value of AMH and FSH concerning spontaneous vs induced puberty: a retrospective, longitudinal study of 50 girls with Turner Syndrome

Christine Baggesgaard ^1,2 , Margit Bistrup Fischer ^1,2 , Marie Ljubicic ^1,2,3 , Anette Tønnes Pedersen Pedersen ^3,4 , Katharina M. Main ^1,2,4 & Casper Hagen ^1,2,3,4

Author affiliations

¹Copenhagen University Hospital, Rigshospitalet, Department of Growth and Reproduction, Copenhagen, Denmark; ²Copenhagen University Hospital, Rigshospitalet, International Center for Research and Research Training in Endocrine Disruption of Male Repro-duction and Child Health (EDMaRC), Copenhagen, Denmark; ³Copenhagen University Hospital, Rigshospitalet, Department of Gynaecology, Fertility and Obstetrics, Copenhagen, Denmark; ⁴University of Copenhagen, Department of Clinical Medicine, Copenhagen, Denmark

JOINT2797

Background: Turner syndrome (TS) is characterized by early onset of premature ovarian insufficiency (POI). In prepubertal patients, predicting ovarian function is essential for counselling of puberty guidance and potential ovarian cryopreservation. During infant minipuberty, HPG axis activation allows ovarian function assessment, with FSH remaining elevated in 45,X patients until around age 6 yrs. AMH, produced by small antral follicles, is unaffected by central HPG axis inhibition, keeping circulating levels measurable in all healthy prepubertal girls. While low AMH and elevated FSH are established markers of POI in adolescence, their predictive value in childhood for ovarian function at pubertal onset remains unexplored.

Aim: To evaluate the predictive value of AMH and FSH for POI in TS.

Setting: Copenhagen University Hospital – Rigshospitalet (1995-2022).

Design: Single-center, retrospective, longitudinal study.

Method: Turner syndrome (TS) patients (ICD10 Q96–Q96.9) were categorized into a) spontaneous puberty (n=13) or b) induced puberty by hormone replacement therapy (HRT) due to POI (n=37). Karyotypes: 45X (n=20), 45X/46XX (n=16), miscellaneous (n=14). AMH and FSH levels were analyzed by immunoassays. We assessed the predictive value of low AMH (<3pmol/l) as well as elevated FSH (>+2SDS) concerning induced pubertal onset (Tanner B2) at different timepoints prior to pubertal onset. ROC curves were used for data analysis.

Results: 50 patients had blood samples prior to pubertal onset: 221 blood samples (mean 4, range 1–14 per patient). ROC curves: AMH cut off <3pmol/l provided the best combination of sensitivity and specificity.

Table 1. AMH<3 pmol/l and FSH >+2SD as predictors of the requirement for HRT to induce puberty
	Age (yrs)	n (total patientsin this age range)	Sensitivity	Specificity	PPV	NPV
AMH <3 pmol/l	0-1	4	NA	NA	NA	NA
AMH <3 pmol/l	1-6	11	100	75	88	100
AMH <3 pmol/l	>6 *	38	100	100	100	100
FSH >+2SD	0-1	6	NA	NA	NA	NA
FSH >+2SD	1-6	22	88	60	88	60
*age 6yrs to time of pubertal onset (spontaneous or induced by HRT)

Conclusion: From the age of 6yrs, AMH accurately predicted the patients who required HRT to induce puberty and the patients who underwent spontaneous pubertal onset. Thus, prepubertal AMH is a valuable clinical tool for guiding puberty management as well as future fertility counseling in TS girls. Further follow up is necessary to evaluate the predictive value of hormone levels in minipuberty.