Anti-Müllerian hormone levels in patients with Turner syndrome: relation to karyotype, spontaneous puberty, and replacement therapy
Abstract
Most girls with Turner syndrome (TS) suffer from incomplete sexual development, premature ovarian failure, and infertility due to abnormal ovarian folliculogenesis. Serum anti-Müllerian hormone (AMH) levels reflect the ovarian reserve in females, even in childhood. Thus, we aimed to assess serum AMH levels in girls with TS and its relation to karyotype, spontaneous puberty, and growth hormone (GH) therapy. Fifty TS were compared to 50 age- and sex-matched controls. All subjects were subjected to history, anthropometric assessment, Tanner pubertal staging and measurement of serum follicle stimulating hormone (FSH), luteinizing hormone (LH), estradiol (E2), and AMH. Karyotype results were obtained from patients' records. Serum AMH was measurable in 12 TS patients (24%). The lowest frequency of measurable AMH was in patients with a karyotype of 45,X. The measurable AMH was associated with spontaneous breast development (p = .003) and spontaneous menarche (p = .001). AMH correlated negatively with FSH (r = -.846, p = .000) and LH (r = -.83, p = .034). GH therapy increased the odds of having measurable AMH in TS girls (p = .002). In conclusion, AMH was associated with karyotype, spontaneous pubertal development, LH, and FSH in TS girls and may serve as a useful marker of ovarian function and ongoing follicular development in prepuberty.
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Measurable AMH concentration is positively associated with spontaneous breast development and spontaneous menarche.
“Measurable AMH concentration are positively associated with spontaneous breast development and spontaneous menarche.”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [272]
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Clinical practice guidelines for the care of girls and women with Turner syndrome.
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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
- Authors
- Hamza, R. T., Mira, M. F., Hamed, A. I., Ezzat, T., & Sallam, M. T.
- Affiliations
- Ain Shams University (EG)
- Cairo University (EG)
- National Research Centre (EG)
- Corresponding author
- Hamza, Rasha T.
- Venue
- American Journal of Medical Genetics Part A
- Publisher
- Wiley
- Published
- 2018-08-08
- Volume
- 176
- Issue
- 9
- Pages
- 1929-1934
- ISSN
- 1552-4825 (ISSN-L)
- 1552-4833
- OpenAlex
- W2886732399
- Cited by
- 32
- References
- 16
- Citations by year
- 2026: 3 · 2025: 2 · 2024: 8 · 2023: 6 · 2022: 5 · 2021: 3 · 2020: 5
- FWCI
- 1.23
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- American Journal of Medical Genetics Part A (publishedVersion)
- PubMed (publishedVersion)
- 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, ovarian reserve, premature ovarian failure, spontaneous puberty, growth hormone therapy, karyotype, 45,X, follicle-stimulating hormone, luteinizing hormone, estradiol, prepubertal girls, ovarian function
- MeSH terms
- Adolescent, Adult, Child, Child, Preschool, Cross-Sectional Studies, Female, Humans, Menarche, Phenotype, Puberty, ROC Curve, Turner Syndrome, Biomarkers, Case-Control Studies, Hormone Replacement Therapy, Anti-Mullerian Hormone, Young Adult, Genetic Association Studies, Karyotype
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