Male Infertility

History

• Reproductive History:

  • Has the male ever fathered children before?

  • Trying to conceive for >12 months without success.

• Symptoms of Testosterone Deficiency:

  • Decreased libido, erectile dysfunction, fatigue, or gynaecomastia.

• Past Medical History:

  • Cryptorchidism (undescended testes), testicular torsion, orchitis (mumps, other infections), trauma, pelvic surgery (risk of vas/nerve damage).

• Exposures:

  • Anabolic steroids, illicit drugs, radiation, excessive heat (e.g., hot baths, tight underwear), psychological stress, obesity (reduces testosterone).

• Family History:

  • Klinefelter syndrome (47,XXY) in relatives, CFTR gene mutations (associated with congenital bilateral absence of the vas deferens), other genetic conditions.

Differential Diagnosis

Endocrine

• Primary Hypogonadism: Klinefelter syndrome, prior testicular trauma, cryptorchidism.

• Secondary Hypogonadism: Pituitary adenoma, hyperprolactinaemia, chronic illness (renal failure, cirrhosis), doping with exogenous testosterone.

Spermatogenesis Issues

• Varicocele, testicular tumours, infections (e.g., epididymo-orchitis), genetic causes (CFTR mutations).

Obstruction

• Ejaculatory duct obstruction (cyst, scarring), vasectomy, congenital bilateral absence of the vas deferens (CBAVD), strictures.

Investigations

Semen Analysis

• Abstain from ejaculation for 3–7 days before sample.

• Assess volume, concentration, motility, morphology.

• Repeat if abnormal in 1–3 months (time for new spermatogenesis cycle).

Blood Tests

• FSH/LH:

  • Elevated → Primary testicular failure.

  • Low → Secondary (hypogonadotropic) hypogonadism.

• Testosterone (morning sample): Low indicates hypogonadism.

• Prolactin: Elevated in pituitary tumours (e.g., prolactinoma).

• TFTs: Thyroid dysfunction can affect fertility.

Imaging & Genetics

• Scrotal Ultrasound: Assess varicocele, masses, testicular size/structure.

• Transrectal Ultrasound (TRUS): Check for ejaculatory duct obstruction or seminal vesicle abnormalities.

• Genetic Testing:

  • Karyotype for Klinefelter syndrome (47,XXY).

  • CFTR gene mutations if suspect congenital bilateral absence of vas deferens or abnormal semen analysis (low volume, acidic pH).

Management

Lifestyle

• Avoid heat (hot tubs, tight underwear), anabolic steroids, smoking, and excessive alcohol.

• Maintain healthy BMI (obesity can reduce testosterone, impair spermatogenesis).

• Stress management, moderate exercise.

Medical

• Gonadotropin Therapy (e.g., hCG ± recombinant FSH) for hypogonadotropic hypogonadism.

• Avoid exogenous testosterone if fertility is desired (suppresses endogenous gonadotropins).

• PDE-5 inhibitors (e.g., sildenafil) if erectile dysfunction coexists.

Surgical

• Varicocelectomy if symptomatic varicocele or subfertility with clinically significant varicocele.

• Obstruction: Reversal of vasectomy (vasovasostomy) or sperm aspiration if recanalisation not possible.

ART (Assisted Reproductive Techniques)

• Intrauterine Insemination (IUI): Mild sperm abnormalities, adequate counts.

• IVF/ICSI (Intracytoplasmic Sperm Injection): Severe oligospermia or azoospermia (sperm retrieved surgically).

Referrals

• Urologist/Andrologist for surgical issues (varicocele, obstruction), complex comorbidities, or evaluation of testicular lesions.

• Fertility Specialist for advanced ART if severe sperm abnormalities.

• Genetic Counselling: If karyotype anomalies (Klinefelter), CFTR mutations, or recurrent IVF failure.

Notes

• Evaluate the female partner concurrently (infertility is often multifactorial).

• Address psychosocial impacts: Provide counselling or support.

• Recurring theme: Some couples with moderate male factor issues can still conceive spontaneously if given time, lifestyle modifications, or simpler interventions.

• Sperm banking may be considered prior to treatments that could impair fertility (e.g., chemotherapy).