1. Definition & Epidemiology
- PCOS is a heterogeneous endocrine disorder affecting up to 12% of women of reproductive age (15–44 years) ScienceDirect+15PMC+15AAFP+15.
- Characterized by hyperandrogenism, ovulatory dysfunction, and polycystic ovarian morphology (two of three diagnostic criteria; Rotterdam ‒ updated internationally 2023) PMC+1AAFP+1.
- Symptoms often include obesity, acne, hirsutism, menstrual irregularity, and infertility.
- Female predominance; onset typically in the third to fourth decade of life.
2. Etiology & Pathophysiology
- Genetics: Strong familial predisposition; high concordance in monozygotic twins; strongly associated with HLA-DQ genes .
- Hormonal imbalance: Increased LH/FSH ratio due to GnRH pulsatility leads to ovarian androgen excess.
- Insulin resistance: Present in ~50-80% of women with PCOS, exacerbates hyperandrogenism through reduced SHBG and increased ovarian androgen synthesis WikipediaWikipedia+1PMC+1.
- Microbiome influences are emerging as an area of interest in PCOS research Monash University+7Oxford Academic+7Obstetrics & Gynecology+7.
3. Clinical Presentation
A. Reproductive
- Menstrual irregularities: Oligo/anovulation, amenorrhoea, delayed menarche.
- Infertility associated with anovulation.
B. Androgenic Symptoms
- Hirsutism, acne, alopecia, and virilization (rare).
- Elevated biochemical and/or clinical androgens in ≥60% of cases MDPIMDPI+3AAFP+3Wikipedia+3.
C. Metabolic
- Features of metabolic syndrome: obesity, insulin resistance, dyslipidemia, NAFLD, type 2 diabetes AJOG+5PMC+5Cureus+5.
D. Psychological
- Increased prevalence of depression, anxiety, sleep disturbances, and impaired quality of life .
4. Associated Comorbidities
- Type 2 diabetes, metabolic syndrome, NAFLD, dyslipidemia, and cardiovascular disease.
- Higher risks of endometrial hyperplasia and certain cancers due to chronic unopposed estrogen.
- Complications including subfertility, miscarriage, gestational diabetes.
- Psychosocial co-morbidities: anxiety, depression BioMed Central+1cme.cityofhope.org+1.
5. Diagnosis (2023 International Guidelines)
Requirements (2 out of 3):
- Hyperandrogenism (clinical and/or biochemical; e.g., modified Ferriman–Gallwey ≥4) AAFP.
- Ovulatory dysfunction: Oligo- or anovulation.
- Polycystic ovarian morphology (PCOM): ≥20 follicles per ovary or increased ovarian volume via ultrasound or elevated anti-Mullerian hormone (AMH) PMC.
Exclusions:
- Other endocrine disorders: CAH, Cushing syndrome, thyroid disease, hyperprolactinemia, androgen-secreting tumors.
6. Investigations
- Hormonal assays: LH, FSH, total testosterone, SHBG, AMH.
- 24-hour fasting profile: Lipids, glucose, insulin, HbA1c.
- Ultrasound: Ovarian morphology for PCOM.
- Additional labs: Thyroid, prolactin, cortisol, 17-OH progesterone if indicated.
7. Management
A. Lifestyle
- Foundation of management: healthy diet, regular physical activity, goal weight loss 5–15% to improve metabolic and reproductive symptoms .
B. Pharmacotherapy
- Hormonal regulation & hyperandrogenism:
- Combined oral contraceptives (lowest effective estrogen dose) ± anti-androgens (spironolactone, cyproterone, finasteride) if needed MDPI+12BioMed Central+12Wikipedia+12.
- Ovulation induction:
- Letrozole first-line for fertility; higher live-birth rates than clomiphene PMC.
- Clomiphene and metformin combined may improve ovulation but not live births.
- Gonadotropins and laparoscopic ovarian drilling are third-line PMCWikipedia+1cme.cityofhope.org+1.
- Metabolic therapy:
- Metformin recommended for women with BMI ≥25 kg/m² or metabolic risk; improves insulin resistance and menstrual cyclicity .
- Pioglitazone/rosiglitazone also improve metabolic markers but less favorable side effect profile.
- Inositols and N-acetyl cysteine (NAC) emerging but require further evidence MDPI+1Wikipedia+1.
- Anti-androgen therapy: for severe hirsutism; combination with COCP recommended after ≥6 months MDPI+1BioMed Central+1.
C. Adolescent Approach
- Adolescents “at risk” require follow-up; COCP plus metformin considered for menstrual regulation/hyperandrogenism BioMed Central.
8. Monitoring & Follow-up
- Evaluate weight/BMI, menstrual pattern, androgen symptoms, lipid and glucose levels.
- Reassess every 6–12 months; adjust therapy individually.
- Counsel on long-term risks: metabolic, reproductive, psychological comorbidities.
9. Prognosis
- Lifestyle and pharmacotherapy improve symptoms and long-term health.
- With treatment, menstrual regularity, fertility, and cardiometabolic outcomes improve.
- Early intervention yields better reproductive and metabolic results.
🔑 Summary for Students
PCOS is a prevalent endocrine-metabolic disorder driven by androgen excess and insulin resistance. Diagnosis follows 2023 evidence-based criteria and aims to exclude other causes. Key management strategies include lifestyle modification, hormonal therapy, insulin sensitizers, and personalized fertility treatment. Monitoring and long-term risk management are essential for optimal care.
