⚠️ Amenorrhoea: Absence of menstruation. Investigations depend on whether secondary sexual characteristics are present. 👉 If absent ➝ investigate at 16. If present ➝ investigation can wait until 18.

📌 Definitions

🟣 Primary Amenorrhoea: No menarche by age 16 (with secondary sexual characteristics) or by age 14 (without them).
🟠 Secondary Amenorrhoea: Absence of periods for >6 months in someone with previous normal cycles.

📊 Causes of Primary Amenorrhoea

Cause	Clinical Features	Investigations	Management
Turner Syndrome (45,XO)	Short stature, webbed neck, widely spaced nipples, absent puberty	Karyotyping, FSH/LH, pelvic USS	HRT (estrogen + progesterone), growth hormone therapy
Androgen Insensitivity Syndrome (46,XY)	Normal breasts, absent hair, blind-ending vagina	Karyotype, testosterone, USS	Gonadectomy post-puberty, HRT, psychological support
Müllerian Agenesis (MRKH)	Normal secondary sexual characteristics, absent uterus	Pelvic USS, MRI, karyotype (46,XX)	Neovagina creation, psychological support
Kallmann Syndrome	Anosmia, delayed puberty, hypogonadotrophic hypogonadism	FSH, LH, estradiol/testosterone, brain MRI	HRT (GnRH analogues, estrogen, progesterone)

📊 Causes of Secondary Amenorrhoea

Cause	Clinical Features	Investigations	Management
Pregnancy (always first!)	Missed period, breast tenderness, nausea	Urine/serum hCG	Antenatal care if desired, counselling if unintended
Polycystic Ovary Syndrome (PCOS)	Oligomenorrhoea, hirsutism, acne, obesity	Testosterone, LH/FSH ratio, pelvic USS	Lifestyle change, COCP, anti-androgens, metformin
Hypothalamic Amenorrhoea	Excessive exercise, low BMI, stress	FSH/LH, estradiol, TFTs, prolactin	Weight restoration, stress reduction, HRT if prolonged
Premature Ovarian Insufficiency (POI)	Hot flushes, vaginal dryness, elevated FSH	FSH/LH, estradiol, karyotype, autoimmune screen	HRT, calcium/vitamin D, bone health, psychological support
Asherman’s Syndrome	Hx of uterine surgery, infertility, cyclical pain	Hysteroscopy, HSG, pelvic USS	Hysteroscopic adhesiolysis, estrogen therapy

🧪 Investigations (Stepwise Approach)

1️⃣ Pregnancy test – always first in secondary amenorrhoea.
2️⃣ Hormonal profile: FSH, LH, estradiol, prolactin, TSH, testosterone.
3️⃣ Imaging: Pelvic USS (uterus, ovaries, PCOS, Müllerian agenesis).
4️⃣ Special tests: Karyotyping (Turner’s, AIS, POI), MRI brain (Kallmann, prolactinoma).
5️⃣ Endocrine tests: Dexamethasone suppression test (Cushing’s), cortisol, TFTs.

💊 Management Principles

🎯 Treat the underlying cause (e.g. PCOS, Asherman’s).
💊 Replace hormones where needed (HRT in POI, Turner’s, Kallmann).
🧠 Provide psychological support (AIS, MRKH, infertility).
🦴 Optimise bone health (calcium, vitamin D, bisphosphonates if premature menopause).
👩‍👩‍👧 Involve MDT: endocrinology, gynaecology, psychology, fertility specialists.

📝 OSCE / Exam Pearls

Always state: “First, exclude pregnancy.”
Know the classic features of Turner’s, AIS, MRKH, and Kallmann’s.
In secondary amenorrhoea, think: PCOS, hypothalamic stress, POI, Asherman’s.
For POI ➝ HRT + bone protection + psychological support.
For Asherman’s ➝ hysteroscopic adhesiolysis is gold standard.

🎯 Key Takeaway

Amenorrhoea requires a structured approach. 👉 First rule out pregnancy, then assess hormones, uterus, and ovaries. Primary causes often congenital/genetic, secondary causes often hormonal/structural. Management must address underlying cause, hormone replacement, fertility goals, and psychological support. 🌟

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Amenorrhoea