Polycystic Ovary Syndrome

A common endocrine condition affecting women of reproductive age, characterised by the combination of hyperandrogenism, ovulatory dysfunction, and polycystic ovarian morphology.

Diagnosis uses the internationally recognised Rotterdam criteria, requiring at least two of these three features. Relevant alternative causes producing an overlapping clinical picture must be carefully excluded.

It is a heterogeneous condition with substantial variation in presenting features between affected individuals. It carries important, broader metabolic implications extending well beyond the reproductive manifestations alone.

Management is full and individualised, addressing the combination of symptoms and priorities relevant to each affected woman.

Pathophysiology and diagnostic criteria

• The underlying pathophysiology reflects a complex interplay of three factors: insulin resistance, disrupted gonadotropin secretion, and genetic predisposition. Their relative contribution varies between women, accounting for the substantial clinical heterogeneity.
• Insulin resistance is present in a substantial proportion, though not all, of affected women. It contributes directly to excess ovarian androgen production through insulin's direct stimulatory effect on ovarian theca cell androgen synthesis.
• Gonadotropin secretion is disrupted, with relatively increased luteinising hormone relative to follicle-stimulating hormone. This contributes to excess ovarian androgen production and impaired normal follicular maturation.
• The Rotterdam diagnostic criteria require at least two of the following three features:
  • Oligo-ovulation or anovulation (typically manifesting as oligomenorrhoea or amenorrhoea).
  • Clinical (hirsutism, acne) or biochemical hyperandrogenism.
  • Polycystic ovarian morphology on ultrasound, defined by established criteria regarding follicle number and, in some diagnostic frameworks, ovarian volume.
• Essential exclusion of relevant alternative causes that can produce an overlapping clinical picture is also required. These include congenital adrenal hyperplasia (particularly the non-classic form), androgen-secreting tumours, and Cushing syndrome.
• Chronic anovulation results in relatively unopposed oestrogen exposure of the endometrium, as the normal, regular progesterone exposure that follows ovulation is absent.
• This carries an elevated endometrial hyperplasia risk requiring specific, proactive management consideration.

• Menstrual irregularity is a common, frequently early presenting feature, often noted from adolescence. It is typically oligomenorrhoea (infrequent menstruation), sometimes progressing to complete amenorrhoea, and reflects the underlying chronic anovulation.
• Clinical hyperandrogenism presents with hirsutism, acne, and, less commonly, androgenic alopecia.
• Hirsutism is excess terminal hair growth in a male-pattern distribution. Assess it with a structured, standardised scoring system such as the Ferriman-Gallwey scale.
• Severity and pattern of hyperandrogenic features vary considerably between individuals and, notably, with ethnic background, given recognised variation in hair follicle androgen sensitivity between populations.
• Infertility reflects the underlying chronic anovulation. It is a common, significant concern for many affected women. Polycystic ovary syndrome is one of the commonest overall causes of anovulatory infertility.
• Metabolic features include insulin resistance, obesity (present in a substantial proportion though not all affected women), and an increased long-term risk of type 2 diabetes and cardiovascular risk factors.
• These are important components of the overall clinical picture. Proactive metabolic assessment and monitoring are an integral component of management.
• Psychological impact is significant, with increased rates of anxiety, depression, and body image concerns. Contributors are the visible, often distressing hyperandrogenic features and the broader implications of the condition for fertility and metabolic health.
• This is an important, frequently underrecognised component of the clinical burden and warrants proactive, sensitive clinical attention.

• Diagnosis applies the Rotterdam criteria. It requires careful clinical assessment for hyperandrogenism, menstrual history assessment, and pelvic ultrasound assessment of ovarian morphology.
• Assess hyperandrogenism by clinical examination and, where relevant, biochemical assessment including total and free testosterone, with sex hormone binding globulin.
• Exclusion of relevant alternative diagnoses that can produce an overlapping clinical picture is an essential component of diagnostic evaluation. It includes 17-hydroxyprogesterone measurement to exclude non-classic congenital adrenal hyperplasia, thyroid function testing, and prolactin measurement.
• Further, targeted investigation is indicated where hyperandrogenic features are unusually severe or rapid in onset.
• Such features would be atypical for straightforward polycystic ovary syndrome and would instead raise concern for an androgen-secreting tumour or Cushing syndrome.
• Metabolic screening is a standard component of evaluation after diagnostic confirmation. It includes assessment of glucose tolerance, given the substantially increased risk of insulin resistance and type 2 diabetes in this population, and a lipid profile.
• This bears directly on longer-term health risk and management planning.

• Lifestyle modification is an important, foundational component of management. It incorporates regular physical activity and, where body mass index is elevated, weight management support.
• Even modest weight reduction in affected women with overweight or obesity improves metabolic parameters and, frequently, menstrual regularity and fertility outcomes.
• Combined hormonal contraception is effective, standard treatment for both menstrual irregularity and hyperandrogenic symptoms where contraception is also desired or acceptable.
• It suppresses ovarian androgen production and increases sex hormone binding globulin, reducing free, biologically active androgen levels. Individualise the formulation according to patient factors and preference.
• Anti-androgen treatment (including spironolactone, used off-label for this indication in many jurisdictions) may be added for hirsutism not adequately controlled with hormonal contraception alone. Add topical and other dermatological treatment for acne, addressed under the general principles of acne management.
• Effective, reliable contraception is essential during anti-androgen treatment, given the significant teratogenic risk of feminisation of a male fetus should pregnancy occur.
• Metformin is an established option, particularly for women with confirmed insulin resistance. It benefits metabolic parameters and, in some women, improves menstrual regularity. Its direct benefit for hirsutism is generally more modest than the hormonal and anti-androgen approaches.
• Fertility management for anovulatory infertility related to polycystic ovary syndrome comprises ovulation induction. Letrozole is current first-line treatment, given demonstrated superior efficacy compared with the historically standard clomiphene citrate.
• For women not responding to oral ovulation induction, specialist fertility treatment options include gonadotropin therapy or in vitro fertilisation, delivered through specialist fertility services.
• Endometrial protection is an essential consideration for women with significant oligomenorrhoea or amenorrhoea who are not otherwise using hormonal contraception. Relatively unopposed oestrogen exposure carries an elevated endometrial hyperplasia risk.
• Appropriate approaches are regular induced withdrawal bleeding (through cyclical progestogen or combined hormonal contraception) or, alternatively, the levonorgestrel-releasing intrauterine system.
• Ongoing metabolic surveillance incorporates periodic reassessment of glucose tolerance and cardiovascular risk factors, given the elevated longer-term risk in this population.
• Provide psychological support addressing the substantial emotional and quality-of-life impact of this condition.
• Individualise management, prioritising the symptoms and goals most relevant to each woman (menstrual regulation, hyperandrogenic symptom control, fertility, or metabolic health).