AMH as predictor of premature ovarian insufficiency: a longitudinal study of 120 Turner syndrome patients
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CONTEXT: The majority of Turner syndrome (TS) patients suffer from accelerated loss of primordial follicles. Low circulating levels of anti-Müllerian hormone (AMH) may predict the lack of spontaneous puberty in prepubertal girls and imminent premature ovarian insufficiency (POI) in TS women with preserved ovarian function. OBJECTIVES: To evaluate the association between circulating AMH and ovarian status in TS patients. DESIGN: Longitudinal observational cohort study. SETTING: Tertiary referral center for pediatric and gynecologic endocrinology. PARTICIPANTS: A total of 120 TS patients, aged 0 to 48 years. MAIN OUTCOME MEASURES: Longitudinal measurements of AMH, FSH, LH, estradiol, and inhibin B according to age, karyotype (45,X; 45,X/46,XX mosaicism; miscellaneous karyotypes), and ovarian status (group 0, prepubertal; group 1, never ovarian function; group 2, ongoing ovarian function; and group 3, loss of ovarian function). RESULTS: Ovarian status was highly associated with the TS karyotype: spontaneous puberty—45,X (three of 44 patients), 45,X/46,XX (15 of 17), miscellaneous (17 of 42); and POI—45,X (three of three), 45,X/46,XX (one of 15), and miscellaneous (eight of 17). AMH was associated with ovarian status (eg, group 1, <2 pmol/L; vs group 2, 19 pmol/L; P < .001). AMH < 4 pmol/L (corresponding to <-2 SD) predicted absent puberty in prepubertal girls and POI in adolescent and adult patients. CONCLUSION: The majority of women with mosaic karyotype 45,X/46,XX had ongoing ovarian function in early adulthood. AMH < -2 SD predicted failure to enter puberty in young TS girls and imminent POI in adolescent and adult TS patients.
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Low AMH and undetectable inhibin B can be used to predict ovarian insufficiency in Turner syndrome.
“Low AMH and undetectable inhibin B can also be used to predict ovarian insufficiency in TS”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [270]
AMH <4 pmol L−1 has been shown to suggest absence of puberty.
“AMH <4 pmol L−1 has been shown to suggest absence of puberty.”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [270]
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Puberty progression in girls with Turner syndrome after ovarian tissue cryopreservation
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Moxibustion improves ovarian function based on the regulation of the androgen balance
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Premature ovarian insufficiency in adolescence: a chance for early diagnosis?
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Prediction of premature ovarian insufficiency: foolish fallacy or feasible foresight?
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Karyotype is associated with timing of ovarian failure in women with Turner syndrome
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Turner syndrome: fertility counselling in childhood and through the reproductive lifespan
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“that any of girls with AMH < 4 pmol/l entered puberty spontaneously [26].”
BackgroundTurner syndrome and pituitary adenomas: a case report and review of literature
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Anti-Müllerian hormone as a qualitative marker – or just quantity?
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Diminished ovarian reserve in adolescent cancer survivors treated with heavy metal chemotherapy
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Clinical utility of anti-Müllerian hormone in female children and adolescents
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Aversa, T., SANCTIS, L. D., Faienza, M. F., Gambineri, A., Balducci, A., D'Aprile, R., Somma, C. D., Giavoli, C., Grossi, A., Meriggiola, M. C., et al. (2024) · Journal of Endocrinological Investigation · doi:10.1007/s40618-024-02315-4 · Cited by 6 · see citing works
A decade in female reproduction: an endocrine view of the past and into the future
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Parissone, F., Pucci, M., Meneghelli, E., Zuffardi, O., Paola, R. D., Zaffagnini, S., Franchi, M. P., Santangelo, E., Cantalupo, G., Cavarzere, P., et al. (2020) · International Journal of Pediatric Endocrinology · doi:10.1186/s13633-019-0071-z · Cited by 6 · see citing works
van der Coelen, S., Hagen, C. P., Nadesapillai, S., Bedei, I. A., Binder, G., Bocca, G., Gawlik, A., Gruber, N., Hannema, S. E., Juul, A., et al. (2025) · Fertility and Sterility · doi:10.1016/j.fertnstert.2025.07.003 · Cited by 5 · see citing works
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Hannema, S. E., Wolffenbuttel, K. P., van Bever, Y., Brüggenwirth, H. T., van den Berg, S. A. A., Hersmus, R., Oosterhuis, J. W., & Looijenga, L. H. J. (2023) · Clinical Endocrinology · doi:10.1111/cen.14909 · Cited by 5 · see citing works
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Age-specific reference intervals of serum anti-Müllerian hormone in Chinese girls
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Yijing Decoction improves premature ovarian failure in rats by activating VEGF/VEGFR-2/FAK pathway
Gao, R., Wu, Y., Tang, Y., Wu, K., & Guo, B. (2025) · Journal of Ovarian Research · doi:10.1186/s13048-025-01679-2 · Cited by 4 · see citing works
Clinical utility of urinary gonadotrophins in hypergonadotrophic states as Turner syndrome
Boncompagni, A., McNeilly, J., Murtaza, M., Lucaccioni, L., Iughetti, L., Wong, S. C., & Mason, A. (2020) · Journal of Pediatric Endocrinology and Metabolism · doi:10.1515/jpem-2020-0170 · Cited by 3 · see citing works
Kızılay, D. Ö., Karapınar, D. Y., Karadaş, N., Karaoğlan, M., Akbayram, S., Gökşen, D., Gadashova, A., Albayrak, S., Pekpak, E., Orbak, Z., et al. (2025) · Pediatric Blood & Cancer · doi:10.1002/pbc.31591 · Cited by 3 · see citing works
Balle, C. M., Nørgaard, S. M., Baggesgaard, C. M. B., Valsted, L. B., Viuff, M. H., Næraa, R. W., Dueholm, M., Jakobsen, M.-C. R., Bache, I., Kristensen, S. G., et al. (2025) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-025-04104-5 · Cited by 3 · see citing works
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Self-citationCHROMOSOMAL DISEASES IN THE HUMAN PATHOLOGY
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Infant gonadotropins predict spontaneous puberty in girls with Turner syndrome
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Bin-Abbas, B. S., & Jabari, M. A. (2025) · Frontiers in Endocrinology · doi:10.3389/fendo.2025.1640583 · Cited by 2 · see citing works
Transition from pediatrics to adult health care in girls with turner syndrome
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In vitro fertilization and pregnancy outcomes of women with X chromosome abnormality: A case series
Wang, R., Zhang, L., Liao, J., Ma, F., & Ma, Q. (2024) · Birth Defects Research · doi:10.1002/bdr2.2349 · Cited by 1 · see citing works
Use of Hormone Replacement Therapy in Special Circumstances
Goel, N., Ranjan, M., Sharma, J. B., Srivastava, R., & Vardhan, S. (2025) · Journal of Mid-life Health · doi:10.4103/jmh.jmh_152_24 · Cited by 1 · see citing works
Öktem, Ö., Kalajahi, H. G., Esmaeilian, Y., Benlioğlu, C., Hela, F., Yusufoğlu, S., Kalkan, Ü., Turan, V., & Ata, B. (2026) · Human Reproduction · doi:10.1093/humrep/deag016 · Cited by 1 · see citing works
van der Coelen, S., Sas, T., Richter-Unruh, A., Braat, D. D. M., Fleischer, K., Nadesapillai, S., IntHout, J., & van der Velden, J. A. E. M. (2026) · Journal of the Endocrine Society · doi:10.1210/jendso/bvag122 · Cited by 1 · see citing works
Management of Rapidly Progressive Precocious Puberty in a Patient with Mosaic Turner Syndrome
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Retard pubertaire chez la fille
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Self-citationTurner Syndrome with Mosaicism of X Chromosome: A Case Report
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Turner syndrome: the promise of fertility via stem cell technology
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Sperm Preparation for IVF and ICSI
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Turner Syndrome: Primary Amenorrhea from Adolescence to Aging
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Fertility Preservation for Turner Syndrome
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Premature Ovarian Insufficiency: Advances in Management Through a Global Registry
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Die Genetik der In(Sub)fertilität
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Anti-Müllerian Hormone (Amh) in Gynecological Endocrinology
(2017) · ARC Journal of Gynecology and Obstetrics · doi:10.20431/2456-0561.0204004
Estrogen Replacement in Turner Syndrome
Klein, K. O., Rosenfield, R. L., Santen, R. J., Gawlik, A., Backeljauw, P. F., Gravholt, C. H., Sas, T., & Mauras, N. (2020) · Springer eBooks · doi:10.1007/978-3-030-34150-3_5
- Authors
- Lunding, S. A., Aksglaede, L., Anderson, R. A., Main, K. M., Juul, A., Hagen, C. P., & Pedersen, A. T.
- Affiliations
- University of Copenhagen (DK)
- Venue
- The Journal of Clinical Endocrinology & Metabolism
- Publisher
- The Endocrine Society
- Published
- 2015-07
- Volume
- 100
- Issue
- 7
- Pages
- E1030-E1038
- ISSN
- 0021-972X (ISSN-L)
- 1945-7197
- OpenAlex
- W1955703337
- Cited by
- 125
- References
- 42
- Citations by year
- 2026: 8 · 2025: 16 · 2024: 14 · 2023: 12 · 2022: 13 · 2021: 11 · 2020: 13 · 2019: 10 · 2018: 9 · 2017: 12 · 2016: 5 · 2015: 2
- FWCI
- 6.38
- Type
- journal article
- Language
- en
- Open access
- green
- hdl.handle.net
- Licence
- other-oa
- Locations
- The Journal of Clinical Endocrinology & Metabolism (publishedVersion)
- PubMed (publishedVersion)
- Research at the University of Copenhagen (University of Copenhagen) (submittedVersion)
- Edinburgh Research Explorer (University of Edinburgh) (submittedVersion, other-oa)
- Funders
- Gentofte Hospital
- Rigshospitalet
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Health Sciences › Medicine › Reproductive Medicine › Ovarian function and disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Sexual Differentiation and Disorders
- Keywords
- Turner syndrome, anti-Müllerian hormone, premature ovarian insufficiency, ovarian function, karyotype, 45,X/46,XX mosaicism, spontaneous puberty, primordial follicle loss, inhibin B, follicle-stimulating hormone, estradiol
- MeSH terms
- Adolescent, Adult, Child, Child, Preschool, Female, Humans, Infant, Infant, Newborn, Longitudinal Studies, Middle Aged, Prognosis, Turner Syndrome, Biomarkers, Primary Ovarian Insufficiency, Anti-Mullerian Hormone, Young Adult
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