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Q1: Definition, classification and the first test (2 min)
- Define primary amenorrhoea. No menses by age 15 in a girl with secondary sex characteristics, OR no menses by age 13 in a girl with no thelarche (no secondary sex characteristics).
- Define secondary amenorrhoea. Cessation of menses for at least 3 months in a woman with previously regular cycles, or at least 6 months in a woman with previously irregular cycles.
- What is the single most important first test in any amenorrhoea? A pregnancy test (beta-hCG) — pregnancy is the commonest cause of secondary amenorrhoea and must be excluded before any imaging or hormone interpretation.
- How do you classify the causes anatomically? By the four compartments of the HPO axis and outflow tract: uterus/outflow, ovary, pituitary, hypothalamus/CNS.
Q2: Primary amenorrhoea differential (3 min)
- A 15-year-old with primary amenorrhoea — how do you subdivide the differential? First assess uterus present? and secondary sex characteristics present? then use karyotype and FSH/LH.
- Short stature, no puberty, webbed neck — diagnosis? Turner syndrome (45,X) — streak ovaries, RAISED FSH/LH (hypergonadotropic hypogonadism); screen for coarctation and renal anomalies.
- Anosmia plus primary amenorrhoea? Kallmann syndrome — isolated GnRH deficiency with olfactory bulb aplasia; LOW FSH/LH.
- Normal breasts and female phenotype, absent uterus, normal karyotype 46,XX? Mullerian agenesis (MRKH) — normal hormones, NO cyclic pain, infertility (but genetic motherhood via surrogacy); vaginal dilation first-line.
- Breasts present, absent/scant pubic hair, no uterus, 46,XY? Complete androgen insensitivity — male-range testosterone; remove gonads after puberty for malignancy risk.
- Primary amenorrhoea WITH cyclic pelvic pain? Obstructed outflow — imperforate hymen or transverse vaginal septum (a uterus is present, menses are retained).
Q3: Secondary amenorrhoea work-up (3 min)
- After excluding pregnancy, what is the hormone panel? FSH, LH, oestradiol, prolactin, TSH — add testosterone/free androgen index if hyperandrogenic.
- Interpret FSH 42 IU/L, low oestradiol, age 32. Premature ovarian insufficiency (POI) — FSH over 25 IU/L on two samples before age 40; investigate (autoimmune, fragile-X premutation); treat with combined HRT until age 51 (the COCP is NOT optimal HRT).
- Interpret normal FSH/LH, low oestradiol, normal prolactin/TSH in a runner. Functional (hypothalamic) amenorrhoea — low energy availability suppresses GnRH.
- What is the progestogen challenge test and what does a withdrawal bleed mean? Medroxyprogesterone 10 mg daily for 5 to 10 days. A bleed means anovulation with adequate oestrogen (e.g. PCOS); no bleed means hypoestrogenism or outflow obstruction.
- No bleed to progestogen, then no bleed to combined oestrogen-progestogen — diagnosis? Uterine outflow obstruction, classically Asherman syndrome (post-D&C intrauterine adhesions); confirm with hysteroscopy.
- Raised prolactin — what next? Repeat to confirm (macroprolactin screen), then pituitary MRI and visual fields. Treat a macroprolactinoma with cabergoline first-line even if vision is compromised.
Q4: Management, complications and counselling (2 min)
- Management of functional hypothalamic amenorrhoea? Energy restoration first (weight gain, reduce exercise, treat eating disorder, CBT); if amenorrhoea persists, transdermal oestradiol plus cyclic progestogen for bone — the COCP does NOT restore bone density in FHA.
- Management of PCOS for cycle control and fertility? Lifestyle plus combined OCP for cycle control and endometrial protection; metformin for metabolic indications; letrozole is first-line for ovulation induction (PPCOS II / Legro 2014).
- Key long-term risks of untreated hypoestrogenic amenorrhoea? Osteoporosis and fracture (bone loss may be only partially reversible), urogenital atrophy, possible cardiovascular impact — consider DEXA.
- A woman with POI asks about fertility — what do you say? Spontaneous ovulation may resume unpredictably, but oocyte donation is the principal ART route; contraception is still needed if pregnancy is undesired.
- What counselling for an MRKH patient? Normal chromosomes, female identity and hormones; uterus absent so infertility, but genetic motherhood is possible via gestational surrogacy; vaginal dilation first-line for sexual function.