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Infertility is a condition that affects millions of individuals and couples. Although the timing and scope of testing for infertility depend on many factors, when possible, an integrated analysis of both female and male reproductive partners is recommended. The evaluation of infertility may include a medical history, laboratory testing, imaging, and other procedures to identify the underlying cause. Laboratory testing may involve semen analysis for males and bloodwork to assess hormone concentrations and/or to detect possible genetic causes of infertility for both females and males.
Quick Answers for Clinicians
Many conditions are associated with infertility. In female reproductive partners, ovulatory dysfunction, which may be associated with amenorrhea, is a common cause of infertility. Ovulatory dysfunction may itself be caused by polycystic ovary syndrome (PCOS). Decreased ovarian reserve is another common cause of infertility in female reproductive partners. Refer to the Laboratory Tests to Evaluate Female Infertility table for additional information. In male reproductive partners, semen abnormalities, which may be caused by conditions such as hypogonadism, are often associated with infertility. Refer to the Laboratory Tests to Evaluate Male Infertility table for additional information. Other causes of infertility that may affect either the female or male reproductive partner include thyroid disease, sexually transmitted infections, structural abnormalities, and some genetic conditions.
Indications for Testing
An evaluation of infertility is appropriate for reproductive partners who are unable to achieve pregnancy within 1 year of regular unprotected intercourse. The same evaluation may also be appropriate after 6 months if the female reproductive partner is 35 to 40 years of age, or sooner if the female partner is >40 years of age.
The same evaluation that would be performed for infertility may also be appropriate for individuals who may be at increased risk of infertility or have a condition associated with infertility (eg, amenorrhea, PCOS, sexual dysfunction).
Finally, an evaluation adapted to specific circumstances may also be appropriate for individuals or couples who are using donor sperm, pursuing reciprocal in vitro fertilization, using preimplantation genetic testing, pursuing other fertility treatments, or using assisted reproductive technology (ART) for reasons other than infertility (eg, recurrent pregnancy loss).
Laboratory Testing
For female reproductive partners, laboratory testing plays an important role in the evaluation of infertility, which also includes a thorough history, targeted physical examination, and imaging. For male reproductive partners, laboratory testing should be performed (beginning with semen analysis) and a medical history should be obtained concurrently with the evaluation of the female partner.
Female Infertility Evaluation
Refer to the ARUP Consult Infertility Testing for the Female Reproductive Partner algorithm for a visual overview of the recommended testing strategy.
| Test | Recommendations |
|---|---|
Endocrine Tests | |
| TSH | May be appropriate because untreated thyroid disease can have an adverse effect on fertility |
| AMH | Low concentrations are associated with poor ovarian reserve and response to stimulation |
| FSH | Can be used to predict response to ovarian stimulation High concentrations are consistent with poor response to ovarian stimulation Measurements should be made on day 2-4 or 2-5 of the menstrual cycle Should be measured with estradiol Evaluation for PCOS is suggested if FSH and estradiol are normal in the presence of anovulation or oligomenorrhea |
| Estradiol | May assist with the interpretation of FSH test results Elevated basal concentrations are consistent with decreased ovarian reserve Evaluation for PCOS is suggested if FSH and estradiol are normal in the presence of anovulation or oligomenorrhea |
| LH | Positive test provides evidence of ovulation Can be measured in urine using a commercially available test kit Urine (especially evening or midday urine) results generally correspond to serum measurements High basal concentrations may occur in individuals with PCOS |
| Progesterone | A high result implies ovulation Collect serum approximately 1 week before the start of menses (eg, day 21 of a 28-day cycle) A single measurement is insufficient to determine luteal phase quality because concentrations fluctuate over the course of a day |
| Prolactin | Testing is recommended if there is amenorrhea, galactorrhea, or oligomenorrhea Not recommended in the routine evaluation of infertility if menses are regular and galactorrhea is absent |
Genetic Tests | |
| FMR1 testing | Recommended in individuals <40 yrs of age with high FSH concentrations or ovarian insufficiency or failure without apparent cause Fragile X premutations confer a risk of primary ovarian insufficiency |
| CFTR testing | Recommended if ≥1 causative variants for cystic fibrosis are detected in the male reproductive partner Expanded carrier screening, or gene sequencing including 5T analysis, may be useful |
| AMH, anti-Müllerian hormone; FSH, follicle-stimulating hormone; LH, luteinizing hormone; TSH, thyroid-stimulating hormone | |
Chromosome analysis, immunologic testing, the postcoital test, and thrombophilia testing are not generally recommended in the evaluation of infertility in the female reproductive partner.
Male Infertility Evaluation
Refer to the Infertility Testing for the Male Reproductive Partner algorithm for an overview of the recommended testing strategy.
| Test | Recommendations |
|---|---|
Semen Tests | |
| Semen analysis | Recommended concurrently with the evaluation of the female partner |
| Semen fructose | Low semen fructose suggests obstruction Not a commonly used test |
Endocrine Tests | |
| TSH | May be appropriate because untreated thyroid disease can have an adverse effect on fertility |
| FSH | May be used in the diagnosis of abnormalities of spermatogenesis, obstructive azoospermia, or hypogonadism High or high normal concentrations suggest abnormalities of spermatogenesis Low concentrations with azoospermia suggest obstructive azoospermia Low concentrations with low LH and testosterone are consistent with hypogonadotropic hypogonadism A single measurement is usually adequate despite potentially varying concentrations throughout the day |
| LH | May be used to assess spermatogenesis High LH is consistent with severely impaired spermatogenesis Low concentrations with low FSH and testosterone are consistent with hypogonadotropic hypogonadism A single measurement is usually adequate despite potentially varying concentrations throughout the day |
| Testosterone | Recommended for individuals with azoospermia, erectile dysfunction, low libido, suspected hormone abnormalities, or testicular atrophy Serum total testosterone using an immunoassay is the initial recommended test Repeat testing that includes total testosterone and free or bioavailable testosterone is recommended if the initial results are low Because concentrations decrease over the course of the day, fasting specimens should be collected in the morning Low concentrations are consistent with hypogonadotropic hypogonadism or severely impaired spermatogenesis |
| Prolactin | Recommended if there is low or low-normal LH in the presence of erectile dysfunction, low libido, and/or low testosterone Concentrations outside the reference interval (high or low) may be associated with sexual dysfunction Repeat fasting measurement is recommended if initial results are high but ≤1.5 times the upper limit of the reference interval If results are repeatedly high, an evaluation for hyperprolactinemia is recommended |
Genetic Tests | |
| Karyotyping | Recommended if there is azoospermia or severe oligospermia with an elevated FSH concentration, testicular atrophy, or suspected impaired sperm production Recommended if there is repeat pregnancy loss May identify abnormalities such as Klinefelter syndrome or Robertsonian translocations |
| Y chromosome microdeletion analysis | Recommended if there is azoospermia or severe oligospermia with an elevated FSH concentration, testicular atrophy, or suspected impaired sperm production Fertility options may be informed by test results |
| CFTR testing | Testing for cystic fibrosis is recommended if there is vasal agenesis or idiopathic obstructive azoospermia, including CBAVD Expanded carrier screening, or gene sequencing including 5T analysis, may be useful |
| CBAVD, congenital bilateral absence of the vas deferens | |
Advanced sperm function tests (eg, hemizona assays, sperm penetration tests), antisperm antibody tests, immunologic testing, sperm aneuploidy testing, sperm DNA fragmentation analysis, the postcoital test, and thrombophilia testing are not generally recommended in the evaluation of infertility in the male reproductive partner. However, some of these tests may be useful in the appropriate clinical context (eg, to follow up on suggestive results of other tests).
ARUP Laboratory Tests
Quantitative Enzyme-Linked Immunosorbent Assay
Quantitative Electrochemiluminescent Immunoassay
Quantitative Chemiluminescent Immunoassay
Quantitative High Performance Liquid Chromatography-Tandem Mass Spectrometry
Quantitative Electrochemiluminescent Immunoassay
Polymerase Chain Reaction (PCR)/Capillary Electrophoresis
Matrix-Assisted Laser Desorption Ionization-Time of Flight (MALDI-TOF) Mass Spectrometry
Quantitative Electrochemiluminescent Immunoassay
Quantitative Electrochemiluminescent Immunoassay/Calculation
Quantitative Electrochemiluminescent Immunoassay/Calculation
The concentration of free testosterone is derived from a mathematical expression based on the constant for the binding of testosterone to sex hormone-binding globulin.
Quantitative Electrochemiluminescent Immunoassay/Calculation
The concentrations of free and bioavailable testosterone are derived from mathematical expressions based on constants for the binding of testosterone to albumin and/or sex hormone-binding globulin.
Quantitative Electrochemiluminescent Immunoassay
Quantitative Chemiluminescent Immunoassay
Polymerase Chain Reaction (PCR)/Electrophoresis
Matrix-Assisted Laser Desorption Ionization-Time of Flight (MALDI-TOF) Mass Spectrometry
Giemsa Band
References
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Practice Committee of the American Society for Reproductive Medicine. Fertility evaluation of infertile women: a committee opinion. Fertil Steril. 2021;116(5):1255-1265.
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AUA-ASRM Diagnosis and treatment of infertility in men
American Urological Association. Diagnosis and treatment of infertility in men: AUA/ASRM guideline. Published Oct 2020; accessed Mar 2022.
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Infertility workup for the women's health specialist: ACOG Committee Opinion, Number 781. Obstet Gynecol. 2019;133(6):e377-e384.
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Dieudonné O, Godin PA, Van-Langendonckt A, et al. Biochemical analysis of the sperm and infertility. Clin Chem Lab Med. 2001;39(5):455-457.
Free testosterone concentrations are estimated from measurements of total testosterone and sex hormone-binding globulin concentrations.