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AMH as Predictor of Premature Ovarian Insufficiency: A Longitudinal Study of 120 Turner Syndrome Patients
Open accessAbstract
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 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]
In the citing paper
“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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Sabbadin, C., Marin, L., Manso, J., Mozzato, C., Camozzi, V., Andrisani, A., Sacchetti, C., Mian, C., Scaroni, C. M., Guazzarotti, L., et al. (2024) · Expert Review of Endocrinology & Metabolism · doi:10.1080/17446651.2024.2347265 · Cited by 2
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Nordenstrom, A., Ahmed, S. F., van den, A. E., Blair, J., Bonomi, M., Brachet, C., Broersen, L. H. A., der, G. H. C.-V., Dessens, A. B., Gawlik, A. M., et al. (2022) · Yearbook of pediatric endocrinology · doi:10.1530/ey.19.6.1 · Cited by 1
Self-citationTurner Syndrome with Mosaicism of X Chromosome: A Case Report
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Metadata
- 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
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › 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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