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A 26-year-old woman presents with irregular periods (every 40 to 60 days for three years), progressive facial and abdominal hair growth, acne, and a 6 kg weight gain. She is sexually active and would like to conceive in the next year. She takes no medications. On examination: BMI 31, blood pressure 128/82, acanthosis nigricans over the neck and axillae, modified Ferriman-Gallwey score 10, no clitoromegaly or voice change. Pregnancy test is negative.
Questions
a) What is the most likely diagnosis, and which criteria establish it? (2 marks)
Diagnosis: polycystic ovary syndrome (PCOS). Established by the Rotterdam (2003) criteria — TWO OF THREE: (1) oligo/anovulation, (2) clinical or biochemical hyperandrogenism, (3) polycystic ovarian morphology on ultrasound — after excluding mimics (thyroid disease, hyperprolactinaemia, Cushing syndrome, non-classic CAH, androgen-secreting tumour). This patient already has oligo/anovulation plus clinical hyperandrogenism (hirsutism, acne), satisfying two of three.
b) List four investigations (with the mimic each excludes) you would order to confirm and exclude other causes. (3 marks)
- TSH — excludes thyroid dysfunction.
- Serum prolactin — excludes hyperprolactinaemia.
- Fasting morning 17-hydroxyprogesterone — excludes non-classic congenital adrenal hyperplasia (21-hydroxylase deficiency).
- Serum total/free testosterone and SHBG (free androgen index) — confirms biochemical hyperandrogenism; a markedly high level (over 5 to 6 nmol/L) plus virilisation would prompt tumour imaging.
- (Plus: fasting glucose / HbA1c, lipid profile, and a pelvic ultrasound for ovarian morphology and metabolic screening.)
c) Outline her stepwise management, addressing cycle control, metabolic risk, hirsutism and future fertility. (3 marks)
- Lifestyle first — weight loss target 5 to 10 percent (diet, exercise, behaviour); improves insulin sensitivity, cycles, and ovulation.
- Cycle regulation and endometrial protection — combined oral contraceptive pill (provides cycle control, raises SHBG lowering free testosterone, protects endometrium from unopposed-oestrogen hyperplasia); OR cyclical progestogen if OCP contraindicated.
- Metabolic — metformin (start 500 mg daily, titrate to 1500 to 2000 mg/day) for insulin resistance; screen and manage type 2 diabetes, dyslipidaemia, blood pressure.
- Hirsutism — continue OCP; add cosmetic measures; if inadequate after six months, add an anti-androgen (spironolactone 50 to 200 mg/day) ONLY with reliable contraception.
- Fertility (when desired) — pre-conception weight/glucose optimisation; first-line ovulation induction with letrozole 2.5 to 7.5 mg days 2 to 6 (clomiphene second-line; gonadotrophins / ovarian drilling third-line; IVF for additional factors).
d) Name two long-term complications of untreated PCOS and one red flag that would change your diagnostic approach. (2 marks)
- Complications: (1) type 2 diabetes mellitus (around 4-fold risk) and metabolic syndrome; (2) endometrial hyperplasia / endometrial cancer (around 3-fold risk) from chronic unopposed oestrogen; also cardiovascular risk, obstructive sleep apnoea, anxiety/depression.
- Red flag: sudden severe virilisation (clitoromegaly, deepening voice, frontal balding) with very high testosterone — NOT typical PCOS; investigate for an androgen-secreting ovarian or adrenal tumour.