Diagnosis:

Inany fertility work-up, both male and female partners are tested ifpregnancy fails to occur after a year of regular unprotected sexualintercourse. It should be done earlier if a woman is over age 35 or ifeither partner has known risk factors for infertility. A work-up cannot only uncover the causes of infertility but also detect otherpotentially serious medical problems as well, including geneticmutations, cancer, or diabetes.

Fertility History

The patients will provide the doctor with a detailed history of any medical or sexual factors that might affect fertility:

• Frequency and timing of sexual intercourse
• Duration of infertility and any previous fertility events
• Childhood illnesses and any problems in development
• Any serious illness (diabetes, respiratory infections, cancer, previous surgeries)
• Sexual history, including any sexually transmitted diseases
• Any exposure to toxins, such as chemicals or radiation
• History of any medications and allergies
• Any family history of reproductive problems

Physical Exam

Afertility specialist, usually a urologist, will perform a physicalexamination. A physical examination of the scrotum, including thetestes, is essential for any male fertility work-up. It is useful fordetecting large varicoceles, undescended testes, absence of vasdeferens, cysts, or other physical abnormalities.

• Varicoceleslarge enough to possibly interfere with fertility can be felt duringexamination of the scrotum. In such cases, they are described asfeeling like "a bag of worms." They disappear or are greatly reducedwhen the patient lies down, so the patient should be examined forvaricocele while standing.
• Checkingthe size of the testicles is helpful. Smaller-sized and softertesticles along with tests that show low sperm count are stronglyassociated with problems in sperm formation. Normal testiclesaccompanied by a low sperm count, however, suggest possibleobstruction. The doctor may also take the temperature of the scrotumwith a test called scrotal thermography.
• The doctor will also check the prostate gland for abnormalities.
• The penis is checked for warts, discharge from the urinary tract, and hypospadias (incorrect location of the urethra opening).

Post-Ejaculatory Urine Sample

Aurine sample to detect sperm after ejaculation may rule out or indicateretrograde ejaculation. It also may be used to test for infections.

Semen Analysis

Thebasic test to evaluate a man's fertility is a semen analysis. The spermcollection test for men who can produce semen involves the followingsteps:

• Aman should abstain from ejaculation for several days before the testbecause each ejaculation can reduce the number of sperm by as much as athird. To ensure an accurate sample, most doctors recommend abstainingfrom ejaculation for at least 2 days, but not more than 5 days, priorto semen collection.
• A man collects asample of his semen in a collection jar during masturbation either athome or at the doctor's office. Proper collection procedure isimportant, since the highest concentration of sperm is contained in theinitial portion of the ejaculate. Specially designed condoms are alsoavailable that enable collection of a sample during sexual intercourse.(Regular condoms are not useful, since they often contain substancesthat kill sperm.)
• The sample shouldbe kept at body temperature and delivered promptly. If the sperm arenot analyzed within 2 hours or kept reasonably warm, a large proportionmay die or lose motility.
• A semen analysis should be repeated at least three times over several months.

Theman and woman should both be present when the doctor discusses theresults of this analysis so that both partners understand theimplications. The analysis report should contain results of anyabnormalities in sperm count, motility, and morphology as well as anyproblem in the semen. However, semen analysis alone is not necessarilya definitive indicator of either infertility or fertility.

A semen analysis will provide information on:

• Amount of semen produced (volume)
• Number of sperm per milliliter of semen (concentration)
• Total number of sperm in the sample (count)
• Percentage of moving sperm (motility)
• Shape of sperm (morphology)

Semen Volume and Concentration. The seminal fluid (semen) itself is analyzed for abnormalities. The color is checked and should be whitish-gray.

Theamount of semen is important. Most men ejaculate 2.5 - 5 milliliters(mL) (1/2 - 1 teaspoon) of semen. Either significantly higher or loweramounts can be a sign of prostate problems, blockage, or retrogradeejaculation.

The semenwill be tested for how liquid it is. (Normal semen is liquefied within20 minutes after adding certain enzymes.) Abnormal results may suggestprostate gland problems or lack of sperm.

The amount of sugar (fructose) in sperm will be measured:

• Sincefructose is added to the semen in the epididymis, an absence offructose indicates that an obstruction has occurred either in the vasdeferens or the epididymis.
• Conversely,if there is fructose in the semen but no sperm, then the channel fromthe epididymis is open but there is a defect in sperm production.

Other factors may also be measured:

• White blood cell counts are taken to detect infection.
• Lowlevels of a substance called inhibin B, which appears to be producedonly in the testes, may indicate blockage or other defects in theseminiferous tubules.
• Low levels of another compound, alpha-glucosidase, may also indicate blockage in the epididymis.

Sperm Count.A low sperm count should not be viewed as a definitive diagnosis ofinfertility but rather as one indicator of a fertility problem. Ingeneral, a normal sperm count is considered to be 20 million permilliliter of semen.

Sperm Motility.Motility (the speed and quality of movement) is graded on a 1 - 4ranking system. For fertility, motility should be greater than 2.

• Grade1 sperm wriggle sluggishly and make little forward progress. (Spermthat, in fact, clump together may indicate that antibodies to the spermare present.)
• Grade 2 sperm move forward, but they are either very slow or do not move in a straight line.
• Grade 3 sperm move in a straight line at a reasonable speed and can home in on an egg accurately.
• Grade 4 sperm are as accurate as Grade 3 sperm, but move at a very rapid speed.

Morethan 63% of sperm should be motile for normal fertility, but even menwhose motile sperm constitutes only about a third of the total spermcount should not rule out conception. Testing for sperm motility isparticularly valuable for predicting the success of artificialinsemination and which men might be candidates for the intracytoplasmicsperm injection (ICSI) fertilization technique, in which the sperm isinserted directly into the egg and motility plays almost no role.

Sperm Morphology.Morphology is the shape and structure of the sperm. Determining themorphology of the sperm is particularly important for the success ofthe fertility treatments in vitro fertilization (IVF) andintracytoplasmic sperm injection (ICSI).

Blood Tests

Blood tests are used for measuring several factors that might affect fertility:

Hormonal Levels.Tests for certain hormone levels are indicated if semen analysis isabnormal (especially if sperm concentration is less than 10 million permilliliter) or there are other indications of hormonal disorders.

• Blood tests for testosterone and follicle-stimulating hormone (FSH) levels are usually taken first.
• If testosterone levels are low, then luteinizing hormone (LH) are measured.

Lowlevels of FSH, LH, and testosterone indicate a diagnosis ofhypogonadotropic hypogonadism. Very high FSH levels with normal levelsof other hormones indicate abnormalities in initial sperm production.Usually this occurs only if the testicles are severely defective,causing Sertoli cell-only syndrome, in which sperm-manufacturing cellsare absent. Other hormones, such as prolactin, estrogen, or stresshormones may be measured if there are symptoms of other problems, suchas low sexual drive or the presence of breasts.

Infections. Blood tests can also determine the presence of any infections that might affect fertility, including HIV, hepatitis, and Chlamydia.

Ultrasound

Ultrasoundimaging may be used to accurately determine the size of the testes orto detect cysts, tumors, abnormal blood flow, or varicoceles that aretoo small for physical detection (although such small veins may havelittle or no effect on fertility). It can also help detect testicularcancer.

Sperm Penetration Tests

Cervical Mucus Penetration Test.This post-coital test is designed to evaluate the effect of a woman'scervical mucus on a man's sperm. Typically, a woman is asked to comeinto the doctor's office within 2 - 24 hours after intercourse atmid-cycle (when ovulation should occur). A small sample of her cervicalmucus is examined under a microscope. If the doctor observes nosurviving sperm or no sperm at all, the cervical mucus should then becultured for the presence of infection. The test cannot evaluate spermmovement from the cervix into the fallopian tubes or the sperm'sability to fertilize an egg.

Micro-Penetration Assay Test.This test checks to see if sperm can penetrate hamster eggs that havehad their covering removed. If fewer than 5 - 20% of the eggs arepenetrated, infertility is diagnosed. It may be useful for determiningthe best assisted reproductive treatment options for men withinfertility.

Genetic Testing

Genetictesting may be warranted in men who are severely deficient in sperm andwho show no evidence of obstruction, particularly in men undergoing theintracytoplasmic sperm injection (ICSI) procedure. Genetic testing canhelp identify DNA fragmentation, chromosomal defects, or thepossibility of genetic diseases that can be passed on to children. Ifgenetic abnormalities are suspected in either partner, counseling isrecommended.