ArticleThe Journal of clinical endocrinology and metabolism2017
Pathogenic Anti-Müllerian Hormone Variants in Polycystic Ovary Syndrome.
Article in The Journal of clinical endocrinology and metabolism, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 59 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
59 citing papers in PubMed, 1 synthesis or guideline pooled it, 106 citations in OpenAlex.
- Association between an AMH promoter polymorphism and serum AMH levels in PCOS patients.Human reproduction (Oxford, England) · 2022Pooled it
- Effects of Oral Contraception and Lifestyle Modification on Incretins and TGF-ß Superfamily Hormones in PCOS.The Journal of clinical endocrinology and metabolism · 2021Trial
- Identification of CA2 as a potential candidate gene involved in the therapeutic effect of Huatan Huoxue decoction on polycystic ovary syndrome: An integrated study of network pharmacology, Mendelian randomization, and experimental validation.Journal of food and drug analysis · 2026Article
- Regulatory risk loci link disrupted androgen response to the pathophysiology of polycystic ovary syndrome.Journal of the Endocrine Society · 2026Article
- Diagnostic Criteria and Genetic Basis of Polycystic Ovary Syndrome: A Narrative Review.Metabolites · 2026Review
- Identification of a novel missense mutation (L233Q) in the AMH gene in a polycystic ovary syndrome patient from Assam, India.Przeglad menopauzalny = Menopause review · 2026Article
- POLYCYSTIC OVARY SYNDROME: ORIGINS AND IMPLICATIONS: Genetics of polycystic ovary syndrome (PCOS).Reproduction (Cambridge, England) · 2025Review
- Pathogenic variation in insulin resistance genes is common in polycystic ovary syndrome (PCOS): a strategy for causal gene discovery using whole-exome sequencing (WES) in complex traits.medRxiv : the preprint server for health sciences · 2025Article
- Anti-Müllerian hormone binds heat shock protein glucose-regulated protein 78 in human follicular fluid.Journal of assisted reproduction and genetics · 2025Article
- Rare Variation in LMNA Underlies Polycystic Ovary Syndrome Pathogenesis in 2 Independent Cohorts.The Journal of clinical endocrinology and metabolism · 2025Article
- PCOS - the many faces of a disorder in women and men.Journal of endocrinological investigation · 2025Review
- Shared Pathophysiological Mechanisms and Genetic Factors in Early Menarche and Polycystic Ovary Syndrome.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2025Review
- A divergent two-domain structure of the anti-Müllerian hormone prodomain.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- Custom exome panel revealed new mutations in MAPK14 and novel mutation in RUNX2 gene in patients with PCOS.Scientific reports · 2025Article
- Ongoing Clinical Trials for Polycystic Ovarian Syndrome (PCOS) Afflicted Infertility in Women: A Narrative Review.Reviews on recent clinical trials · 2025Review
- Development of an Endoplasmic Reticulum Stress-Related Diagnostic Signature in Polycystic Ovary Syndrome.Reproductive sciences (Thousand Oaks, Calif.) · 2025Article
- Transcriptome analysis of early embryonic development in a mouse model of polycystic ovary syndrome.Frontiers in cell and developmental biology · 2025Article
- A novel antimüllerian gene mutation in a woman with high antral follicle count and extremely low serum antimüllerian hormone levels.F&S reports · 2024Article
- Structural Basis of Non-Latent Signaling by the Anti-Müllerian Hormone Procomplex.bioRxiv : the preprint server for biology · 2024Article
- Anti-Müllerian Hormone: A Molecular Key to Unlocking Polycystic Ovary Syndrome?Seminars in reproductive medicine · 2024Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors at 3 institutions in 1 country.
Funding
Abstract
Context: Polycystic ovary syndrome (PCOS), a common endocrine condition, is the leading cause of anovulatory infertility. Objective: Given that common disease-susceptibility variants account for only a small percentage of the estimated PCOS heritability, we tested the hypothesis that rare variants contribute to this deficit in heritability. Design, Setting, and Participants: Unbiased whole-genome sequencing (WGS) of 80 patients with PCOS and 24 reproductively normal control subjects identified potentially deleterious variants in AMH, the gene encoding anti-Müllerian hormone (AMH). Targeted sequencing of AMH of 643 patients with PCOS and 153 control patients was used to replicate WGS findings. Main Outcome Measures: Dual luciferase reporter assays measured the impact of the variants on downstream AMH signaling. Results: We found 24 rare (minor allele frequency < 0.01) AMH variants in patients with PCOS and control subjects; 18 variants were specific to women with PCOS. Seventeen of 18 (94%) PCOS-specific variants had significantly reduced AMH signaling, whereas none of 6 variants observed in control subjects showed significant defects in signaling. Thus, we identified rare AMH coding variants that reduced AMH-mediated signaling in a subset of patients with PCOS. Conclusion: To our knowledge, this study is the first to identify rare genetic variants associated with a common PCOS phenotype. Our findings suggest decreased AMH signaling as a mechanism for the pathogenesis of PCOS. AMH decreases androgen biosynthesis by inhibiting CYP17 activity; a potential mechanism of action for AMH variants in PCOS, therefore, is to increase androgen biosynthesis due to decreased AMH-mediated inhibition of CYP17 activity.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.