Current understanding of the genetic architecture of polyendocrine metabolic ovarian syndrome—2026 update
- 1Division of Endocrinology, Metabolism, and Molecular Medicine, Department of Medicine, Northwestern University Feinberg School of Medicine, Chicago, Illinois
- 2Center for Reproductive Science, Northwestern University, Chicago, Illinois
- 3Center for Genetic Medicine, Northwestern University Feinberg School of Medicine, Chicago, Illinois
Abstract
Polyendocrine metabolic ovarian syndrome (PMOS); formerly known as polycystic ovary syndrome) is a common, heterogeneous endocrinopathy of reproductive-age women with a frequency of 5%–26% worldwide. Polyendocrine metabolic ovarian syndrome is characterized by hyperandrogenemia, ovulatory dysfunction, and polycystic ovarian morphology. A systematic search of the National Human Genome Research Institute-European Bioinformatics Institute genome-wide association studies (GWAS) Catalog and the literature in PubMed identified 17 PMOS GWAS or GWAS meta-analyses with loci with significant evidence for association with PMOS. The PMOS GWAS identified 120 genomic regions significantly associated with PMOS. Thirty-eight of the PMOS GWAS loci were detected in at least two cohorts, and most replicated regions were observed across multiple ancestries. The genes encoded by PMOS GWAS loci are implicated in gonadotropin secretion and action, folliculogenesis, sex hormone function, age at menopause, adiposity, insulin signaling, type 2 diabetes mellitus, calcium signaling, endocytosis, lipid and cholesterol levels, and cardiometabolic disease.
Related
- Nutritional Management of Polyendocrine Metabolic Ovarian Syndrome: Current Evidence on Dietary Strategies, Supplementation, and Lifestyle Support
- Polyendocrine metabolic ovarian syndrome (PMOS)/polycystic ovary syndrome (PCOS): current and future trends
- Polyendocrine metabolic ovarian syndrome in adolescents.
- Real‐World Metabolic Improvements in Women With and Without Polyendocrine Metabolic Syndrome via a Multidisciplinary Telehealth Care Platform
- Polyendocrine metabolic ovarian syndrome: a new name to support better treatment.
BibTeX
@article{parker2026current,
title = {{Current understanding of the genetic architecture of polyendocrine metabolic ovarian syndrome—2026 update}},
author = {Chloe Parker and Margrit Urbanek},
journal = {Fertility and sterility},
year = {2026},
month = oct,
doi = {10.1016/j.fertnstert.2026.09.013},
url = {https://doi.org/10.1016/j.fertnstert.2026.09.013},
note = {CC BY-NC-ND 4.0},
}
RIS
TY - JOUR
TI - Current understanding of the genetic architecture of polyendocrine metabolic ovarian syndrome—2026 update
AU - Chloe Parker
AU - Margrit Urbanek
PY - 2026
DA - 2026/10/02
JO - Fertility and sterility
DO - 10.1016/j.fertnstert.2026.09.013
UR - https://doi.org/10.1016/j.fertnstert.2026.09.013
AB - Polyendocrine metabolic ovarian syndrome (PMOS); formerly known as polycystic ovary syndrome) is a common, heterogeneous endocrinopathy of reproductive-age women with a frequency of 5%–26% worldwide. Polyendocrine metabolic ovarian syndrome is characterized by hyperandrogenemia, ovulatory dysfunction, and polycystic ovarian morphology. A systematic search of the National Human Genome Research Institute-European Bioinformatics Institute genome-wide association studies (GWAS) Catalog and the literature in PubMed identified 17 PMOS GWAS or GWAS meta-analyses with loci with significant evidence for association with PMOS. The PMOS GWAS identified 120 genomic regions significantly associated with PMOS. Thirty-eight of the PMOS GWAS loci were detected in at least two cohorts, and most replicated regions were observed across multiple ancestries. The genes encoded by PMOS GWAS loci are implicated in gonadotropin secretion and action, folliculogenesis, sex hormone function, age at menopause, adiposity, insulin signaling, type 2 diabetes mellitus, calcium signaling, endocytosis, lipid and cholesterol levels, and cardiometabolic disease.
SN - 0015-0282
SN - 1556-5653
ER -