Initial Evaluation of Male Infertility in a 29-Year-Old Male
Your planned workup is partially appropriate, but hormonal testing (FSH, LH, testosterone) should NOT be performed routinely as first-line testing—reserve it for men with abnormal semen analysis results, particularly sperm concentration <10 million/mL, or clinical findings suggesting endocrinopathy. 1
Essential First-Line Evaluation
The initial evaluation must include three core components:
Detailed reproductive history covering frequency/timing of intercourse, prior fertility, duration of infertility, childhood illnesses, systemic diseases, surgeries, sexual history including STDs, gonadotoxin exposures (heat, chemicals), medications, and family reproductive history 1
Comprehensive physical examination by an examiner with appropriate training, specifically assessing:
- Penis and urethral meatus location 1
- Testicular size measurement and palpation (normal-sized testes suggest obstruction; atrophic testes indicate spermatogenic failure) 2
- Presence and consistency of vasa deferentia and epididymides (congenital bilateral absence can be diagnosed on exam alone) 1, 2
- Presence of varicocele 1, 2
- Body habitus, secondary sex characteristics (hair distribution, breast development) 1
- Digital rectal examination 1
At least TWO semen analyses performed at least one month apart with 2-3 days abstinence before collection, specimens kept at room/body temperature, examined within one hour 1, 2
When to Perform Hormonal Testing
Hormonal evaluation (FSH, LH, total testosterone, free testosterone) is indicated ONLY when:
- Sperm concentration is <10 million/mL 1
- Azoospermia is confirmed 2, 3
- Impaired sexual function is present 1
- Physical examination reveals findings suggesting endocrinopathy (abnormal secondary sex characteristics, small/atrophic testes) 1
The rationale: ASRM and EAU guidelines explicitly state that endocrine testing is NOT recommended as primary first-line investigation for all infertile men 1. While some experts advocate universal endocrine evaluation, validation studies show that even optimized prediction models have insufficient accuracy (68%) to justify routine testing 1.
When to Perform Testicular Ultrasound
Scrotal/testicular ultrasonography is indicated when:
- Physical examination of the scrotum is difficult or inadequate 2
- Testicular mass is suspected 2
- Azoospermia is confirmed (to assess testicular volume, detect tumors, evaluate architecture) 2
- NOT routinely for all infertile men, as this leads to over-diagnosis of incidental findings 2
Critical Pitfall to Avoid
Do not order the "full panel" upfront. The most recent WHO-informed guidelines (2017) emphasize a stepwise approach: history, physical exam, and semen analysis first, with hormonal testing and imaging reserved for those with abnormalities 1. This approach prevents unnecessary testing while ensuring significant medical conditions (present in 1.1-6% of infertile men) are not missed by physical examination 1.
Recommended Approach for This Patient
- Perform comprehensive physical examination focusing on genital examination as detailed above 1
- Obtain TWO semen analyses at least one month apart 1, 2
- Defer hormonal testing until semen analysis results are available 1
- Defer testicular ultrasound unless physical examination is inadequate or abnormal 2
- If semen analysis shows oligospermia (<10 million/mL) or azoospermia, THEN proceed with FSH, LH, total and free testosterone 1, 2
- If azoospermia confirmed, add genetic testing (karyotype and Y-chromosome microdeletion analysis) 2, 3