Polycystic Ovary Syndrome: Diagnosis and Management Strategies

Polycystic ovary syndrome (PCOS) is a heterogeneous endocrine disorder affecting up to one in five women of reproductive age worldwide. It is characterised by hyperandrogenism, oligo- or anovulation and polycystic ovarian morphology, and is complicated by insulin resistance, obesity and a chronic low-grade inflammatory state. Clinical presentation varies with age, ethnicity and body composition, and may include menstrual irregularity, hirsutism, infertility and metabolic derangements. Diagnosis rests on recognised criteria incorporating clinical signs, biochemical assays and ultrasound imaging, while exclusion of other endocrine disorders is essential. Initial management focuses on lifestyle modification—diet, exercise and weight optimisation—to improve insulin sensitivity and androgen balance. Pharmacological interventions such as insulin-sensitising agents, combined oral contraceptives and antiandrogens are tailored to symptom profile, with ovulation induction or assisted reproduction for those seeking fertility. Long-term surveillance addresses cardiovascular risk factors, psychological support and screening for metabolic complications. Multidisciplinary care that integrates endocrinology, gynaecology, nutrition and mental-health services is central to optimising outcomes and quality of life for affected women.

Research from Nature Portfolio

Recent studies have begun to unravel the tissue-specific and systemic abnormalities underpinning PCOS. A single-cell atlas of the proliferative-phase endometrium in women with PCOS has delineated distinct cellular signatures linked to hyperandrogenism and insulin resistance, revealing alterations in stromal, epithelial and immune cell populations. Therapeutic interventions such as metformin and structured lifestyle programmes were shown to reverse many of these disease-specific endometrial changes, highlighting potential targets—such as integrin pathways—for future precision therapies. In parallel, a comprehensive meta-analysis of over 100 000 pregnancies has defined PCOS as an independent risk factor for miscarriage, gestational diabetes, hypertension and pre-eclampsia even after adjustment for age and body mass index. These findings have directly informed updated international guidelines, emphasising systematic screening for PCOS in antenatal care to mitigate adverse maternal and neonatal outcomes.

Polycystic Ovary Syndrome: Diagnosis and Management Strategies publication trend

The graph below shows the total number of articles in polycystic ovary syndrome: diagnosis and management strategies across all publications each year (not limited to Nature Index journals).

Technical terms

Hyperandrogenism: Excess levels of male-type androgens leading to hirsutism and acne.

Oligo-anovulation: Infrequent or absent ovulation manifesting as irregular or absent menstrual cycles.

Insulin resistance: Reduced cellular response to insulin, contributing to hyperinsulinaemia and metabolic disturbances.

Endometrial receptivity: The state of the uterine lining that permits embryo implantation.

Meta-analysis: Statistical synthesis of data from multiple studies to derive consolidated conclusions.

Mendelian randomisation: A genetic epidemiology method using inherited variants to infer causal relationships.

References

1. Single-cell profiling of the human endometrium in polycystic ovary syndrome. Nature Medicine (2025).
2. Systematic review and meta-analysis of pregnancy outcomes in women with polycystic ovary syndrome. Nature Communications (2024).
3. Polycystic ovary syndrome: a complex condition with psychological, reproductive and metabolic manifestations that impacts on health across the lifespan. BMC Medicine (2010).
4. Large-scale genome-wide meta-analysis of polycystic ovary syndrome suggests shared genetic architecture for different diagnosis criteria. PLOS Genetics (2018).
5. Causal mechanisms and balancing selection inferred from genetic associations with polycystic ovary syndrome. Nature Communications (2015).
6. Chronic Low Grade Inflammation in Pathogenesis of PCOS. International Journal of Molecular Sciences (2021).