What is the initial workup for fertility issues?

Initial Fertility Workup

Both partners should undergo concurrent evaluation from the outset, as male factors contribute to 40-50% of infertility cases. 1, 2

Timing to Initiate Testing

• Begin evaluation after 12 months of unprotected intercourse in women <35 years 3, 2
• Begin evaluation after 6 months in women ≥35 years 3, 2
• Immediate evaluation is warranted for women >40 years or those with known conditions causing infertility (oligo-amenorrhea, suspected tubal disease, endometriosis, or subfertile partner) 3, 2

Female Partner Evaluation

Essential History Components

• Duration attempting pregnancy, coital frequency/timing, previous pregnancies and outcomes 3
• Menstrual history (cycle regularity, duration) 3
• Medical conditions associated with reproductive failure, current medications, allergies 3
• Lifestyle factors: smoking, alcohol, caffeine intake 3

Physical Examination

• Height, weight, BMI calculation 3
• Thyroid examination, clinical breast examination 3
• Assessment for signs of androgen excess 3
• Pelvic examination: evaluate for pelvic/abdominal tenderness or masses, vaginal/cervical abnormalities, uterine size and shape, adnexal masses or tenderness 3

Laboratory and Imaging

• Ovarian reserve testing: Follicle-stimulating hormone (FSH) levels 3
• Transvaginal ultrasound to evaluate uterine anatomy and tubal patency 3
• Additional ovulation assessment as clinically indicated 3

Male Partner Evaluation

Essential History Components

• Coital frequency/timing, prior fertility, duration of infertility 4
• Childhood illnesses and developmental history 4
• Systemic medical illnesses (diabetes, upper respiratory diseases) 4
• Previous surgeries, medications, allergies 4
• Sexual history including sexually transmitted infections 4
• Exposures to gonadotoxins (environmental/chemical toxins, heat) 4
• Family reproductive history 4

Physical Examination (by appropriately trained examiner)

• Penis and urethral meatus location 4
• Testicular size measurement and palpation 4
• Presence and consistency of vasa deferentia and epididymides 4
• Presence of varicocele 4
• Body habitus and secondary sex characteristics 4
• Digital rectal examination 4

Semen Analysis

• At least two semen analyses performed at least one month apart 4
• 2-3 days abstinence before collection 4
• Specimens kept at room/body temperature and examined within one hour 4

When to Perform Additional Male Testing

Hormonal evaluation (total testosterone, FSH, LH) is indicated ONLY when: 4

• Sperm concentration <10 million/mL
• Azoospermia is confirmed
• Impaired sexual function is present
• Physical examination reveals findings suggesting endocrinopathy

Scrotal/testicular ultrasonography is indicated when: 4

• Physical examination of scrotum is difficult or inadequate
• Testicular mass is suspected
• Azoospermia is confirmed

Genetic testing (karyotype, Y chromosome microdeletions, CFTR) is indicated for: 1, 5

• Azoospermia (highest risk for chromosomal abnormalities)
• Severe oligospermia (<5 million/mL)
• Congenital absence of vas deferens

Critical Pitfalls to Avoid

• Do not delay male evaluation – assess both partners simultaneously from the start to avoid diagnostic delays 3, 4
• Do not order routine hormonal testing or imaging for all infertile men – use a stepwise approach reserving these tests for those with abnormal semen parameters or physical examination findings 4
• Do not miss significant medical conditions – men with abnormal semen parameters have higher rates of testicular cancer, and azoospermic men have higher rates of cancer in general 1
• Do not overlook genetic implications – genetic causes can affect treatment success and offspring health if assisted reproductive technologies are utilized 1

Goals of the Evaluation

The overall objective is to identify: 1

• Potentially correctable conditions
• Irreversible conditions amenable to assisted reproductive technologies using partner's sperm
• Irreversible conditions requiring donor sperm or adoption
• Serious medical conditions causing or presenting with infertility that require treatment
• Genetic causes affecting treatment success or offspring health