🔑 Key Learning
- Infertility affects 1 in 8 couples in the UK.
- The most common cause in women is ovulatory dysfunction; in men, sperm abnormalities.
- Initial investigations begin after 1 year of regular UPSI, or after 6 months if age > 36 or known risk factors.
- Mid-luteal progesterone confirms ovulation and should be timed to the cycle length.
📚 Background
Infertility is commonly defined as the failure to conceive after one to two years of regular unprotected sexual intercourse (UPSI). Subfertility affects approximately 1 in 8 couples in the UK.
🧠 Causes of Infertility
Ovulatory disorders (most common cause in women)
-
Hypogonadotropic hypogonadism:
- Stress, excessive exercise, eating disorders (hypothalamic amenorrhoea)
- Kallmann syndrome (anosmia is a common exam clue)
- PCOS
- Hyperprolactinaemia (e.g. prolactinoma, drug-induced)
- Ovarian failure (suggested by raised FSH/LH, low oestradiol)
- Other: thyroid dysfunction, Cushing’s syndrome, CAH, chronic illness
Tubal disease
- Pelvic inflammatory disease (PID)
- Endometriosis
- Previous surgery or ectopic pregnancy
Male infertility
- Primary spermatogenic failure (trauma, torsion, dysgenesis, tumour)
- Genetic causes (e.g. Klinefelter’s syndrome, Kallmann syndrome)
- Obstruction (e.g. vas deferens, ejaculatory duct)
- Varicocele
- Drugs (e.g. sulfasalazine, anabolic steroids)
🧪 Investigations
When to start investigations
- After 12 months of regular UPSI (2–3 times/week)
-
Earlier if:
- Female age > 36 - begin after 6 months
- Oligo-/amenorrhoea
- Known history of PID, endometriosis, or male factor risk
Female investigations
-
Mid-luteal phase progesterone (confirms ovulation)
- 7-days before the expected period:
- Day 21 for 28-day cycle, day 28 for 35-day cycle
- 7-days before the expected period:
-
Gonadotrophins (FSH/LH) on day 2–4:
- Low: hypothalamic cause
- High: ovarian failure
- Prolactin and TFTs
- STI screen
- Tubal patency test
- If no history of comorbidities which may affect tubal patency (PID/endometriosis) - hysterosalpingogram
- If there is a history - diagnostic laparoscopy and dye - assess tubes and pelvis simultaneously
Male investigations
- Semen analysis
- STI screen
💊 Management Options
- Medical: clomifene, gonadotrophins
- Surgical: management of tubal disease, endometriosis
- Assisted conception: IUI, IVF, ICSI
⚠️ Ovarian Hyperstimulation Syndrome (OHSS)
A rare but serious complication of fertility treatment (e.g. clomifene, IVF).
Clinical Features
- Abdominal pain and bloating
- Nausea, vomiting
- Oliguria
- Ascites
- Peripheral oedema
- Thromboembolism
- Pleural effusion/hydrothorax
📝 Exam Clues & Clinchers
- Begin investigations after 1 year (6-months if age 36+)
- Mid-luteal progesterone is the key test to confirm ovulation and should be performed in all women
- Anosmia + amenorrhoea → think Kallmann syndrome
- PCOS: increased LH:FSH ratio and oligomenorrhoea, acne, obesity, hirsutism
- OHSS → IVF patient + bloating, ascites, oliguria
🔗 Useful Links and References
- NICE CKS. Infertility. [Accessed 2023] https://cks.nice.org.uk/topics/infertility