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Subfertility

Specialties > General practice

Differential Diagnosis Schema 🧠

Female Factors

  • Ovulatory dysfunction: Conditions such as polycystic ovary syndrome (PCOS), hypothalamic amenorrhea, hyperprolactinaemia, or premature ovarian insufficiency.
  • Tubal factors: Blockage or damage to the fallopian tubes, often due to pelvic inflammatory disease (PID), endometriosis, or previous surgery.
  • Uterine factors: Congenital anomalies, fibroids, or intrauterine adhesions (Asherman’s syndrome) that can impair implantation or maintenance of pregnancy.
  • Cervical factors: Cervical stenosis, abnormal cervical mucus, or anti-sperm antibodies that inhibit sperm penetration.
  • Endometriosis: Ectopic endometrial tissue that may cause inflammation, scarring, and distortion of pelvic anatomy, affecting fertility.

Male Factors

  • Spermatogenic failure: Reduced sperm production or abnormal sperm morphology/motility, often due to genetic factors, varicocele, or testicular damage.
  • Obstructive azoospermia: Blockage in the male reproductive tract, possibly due to congenital absence of the vas deferens, previous infections, or surgery.
  • Erectile or ejaculatory dysfunction: Conditions such as erectile dysfunction, retrograde ejaculation, or anejaculation.
  • Endocrine disorders: Hypogonadism, hyperprolactinaemia, or other hormonal imbalances affecting sperm production.
  • Environmental factors: Exposure to toxins, heat, radiation, or lifestyle factors such as smoking, alcohol, and drug use that impair sperm function.

Combined and Unexplained Factors

  • Combined infertility: Both partners have factors contributing to subfertility, such as mild ovulatory dysfunction in the female and suboptimal semen parameters in the male.
  • Unexplained infertility: No identifiable cause after thorough investigation, accounting for approximately 10-20% of cases.
  • Age-related decline: Natural decline in fertility with age, particularly in women over 35 years, due to reduced ovarian reserve and oocyte quality.

Key Points in History 🥼

Female History

  • Menstrual history: Regularity, frequency, and characteristics of the menstrual cycle, which may suggest ovulatory function.
  • Obstetric history: Previous pregnancies, miscarriages, or ectopic pregnancies that may impact current fertility.
  • Pelvic pain: Chronic or cyclical pelvic pain may indicate endometriosis or pelvic inflammatory disease.
  • Sexual history: Frequency and timing of intercourse, previous sexually transmitted infections (STIs), and use of contraception.
  • Medical and surgical history: History of pelvic surgery, conditions like diabetes or thyroid disease, and any treatments that may affect fertility.
  • Lifestyle factors: Smoking, alcohol use, body mass index (BMI), and stress levels, all of which can affect fertility.
  • Family history: Genetic conditions, early menopause, or fertility issues in the family.

Male History

  • Developmental history: Pubertal development, history of undescended testes, or testicular torsion.
  • Sexual history: Erectile dysfunction, ejaculatory problems, previous STIs, and frequency of intercourse.
  • Medical and surgical history: History of mumps orchitis, trauma, or surgery involving the genitourinary tract.
  • Lifestyle factors: Smoking, alcohol use, BMI, heat exposure (e.g., frequent sauna use), and occupational hazards.
  • Medications: Use of anabolic steroids, chemotherapy, or other drugs that could impact spermatogenesis.
  • Family history: Genetic conditions, infertility, or other reproductive health issues in the family.

Possible Investigations 🌡️

Female Investigations

  • Day 21 progesterone: To confirm ovulation by measuring mid-luteal phase progesterone levels.
  • Baseline hormonal profile: FSH, LH, estradiol, prolactin, and thyroid function tests to assess ovarian reserve and rule out endocrine disorders.
  • Transvaginal ultrasound: To assess ovarian morphology (e.g., polycystic ovaries), endometrial thickness, and any structural abnormalities.
  • Hysterosalpingography (HSG): Radiographic examination of the fallopian tubes and uterine cavity to check for blockages or anatomical defects.
  • Laparoscopy and dye test: Diagnostic and therapeutic procedure to assess tubal patency and pelvic pathology (e.g., endometriosis).
  • Anti-Müllerian hormone (AMH): A marker of ovarian reserve, helpful in predicting response to fertility treatment.
  • Endometrial biopsy: May be performed to assess the luteal phase or investigate chronic endometritis.

Male Investigations

  • Semen analysis: To assess sperm count, motility, morphology, and volume as the initial investigation for male infertility.
  • Hormonal profile: FSH, LH, testosterone, and prolactin levels to evaluate endocrine causes of male subfertility.
  • Scrotal ultrasound: To assess testicular morphology, varicoceles, and any other structural abnormalities.
  • Genetic testing: Karyotyping and Y-chromosome microdeletion analysis for men with azoospermia or severe oligospermia.
  • Post-ejaculation urine analysis: To rule out retrograde ejaculation in men with low semen volume.
  • Testicular biopsy: May be performed if azoospermia is detected, to differentiate between obstructive and non-obstructive causes.
  • Anti-sperm antibodies: To assess for immunological causes of male infertility.

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General practice