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Diagnosing Male Infertility

Diagnosing male infertility consists of several steps. The standard course for diagnosis typically includes the following:

Patient Medical History

A critical part of the male partner evaluation is an accurate medical history. The patient history should address:

  • Duration of the couple’s infertility and whether or not another treatment has been attempted.
  • Occurrence of pregnancies with both past or present partners and the age of the male partner when they occurred.
  • Sexual habits:
    • Timing: Does the couple have intercourse at the right time of the month and at what frequency? The optimal timing for intercourse is every 48 hours (i.e., every other day) during the time when ovulation is most likely (usually at the female's mid-cycle).
    • Use of lubricants: Couples must be cautioned to use lubricants only if necessary, and then only in limited amounts. Spermatotoxic (damaging to the sperm) lubricants (such as K-Y Jelly, Lubifax, Surgilube, Keri Lotion) and even saliva can impair sperm motility. Other lubricants, such as raw egg white, vegetable oil, safflower oil, peanut oil, and petroleum jelly, do not impair sperm motility.
  • History of bladder, pelvic, or some types of abdominal surgery
  • Childhood illness and disorders that may put him at risk for infertility
  • Testicular trauma
  • Delayed or incomplete puberty
  • Medical problems:
    • Diabetes Mellitus or Multiple Sclerosis
    • Treatment for cancer
    • Gene mutation for Cystic Fibrosis
  • Gonadotoxins: Exposure to medical or environmental toxins that put sperm at risk.

Physical Examination

A comprehensive physical examination should be performed by an experienced clinician to reveal critical information pertaining to the cause of a man’s infertility.

Special care should be taken by the physician to note any evidence of hypogonadism (low testosterone) or a hypothalamic or pituitary tumor, or evidence of gynecomastia (enlarged breasts).

Special emphasis should also be placed on the genital examination, including:

  • Location of the urethral meatus (hole at tip of penis)
  • Testicle size, consistency, and location
  • Presence of varicocele (enlarged veins around testicle)
  • Presence of abdominal or groin scars
  • Presence of vas deferens
  • Epididymal congestion

The prostate should also be carefully examined for size and consistency. The penis should be examined for any abnormalities (hypospadias, abnormal curvature, and tight foreskin phimosis) that may interfere with the proper deposition of sperm deep within the vagina. The epididymis and vas deferens should be carefully examined.

Finally, a full physical examination is performed to rule out any chronic or unsuspected systemic diseases that may impair testicular function.

Semen Analysis

Semen should be collected for analysis after 48 to 72 hours of abstinence. Ideally, the sample should be collected at the laboratory by masturbation into a container furnished by the laboratory, kept at body temperature and analyzed within one hour to ensure accuracy of the evaluation. A minimum of two samples should be obtained over a 2 - 4 week period. To decrease variability, each sample should be collected after the same period of sexual abstinence (2 to 3 days).

Characteristics of the seminal fluid to be analyzed are semen volume, sperm density (count), sperm motility (% activity), forward progression (quality of movement), and sperm morphology (shape). In addition, the sample is analyzed for the presence of leukocytes (white blood cells) that might indicate infection or inflammation.

Hormone Testing

The incidence of primary endocrine (hormonal) defects in infertile men is less than 3%. However, when an endocrinopathy (endocrine disorder) is suspected, specific hormonal treatment is often successful. Therefore, a hormone evaluation should be performed when the sperm concentration is low, or when an endocrinopathy is suspected clinically.

Additional Testing

Sometimes additional testing is required when indicated and may include:

Ultrasound or Imaging Studies → Ultrasound and Male Fertility Evaluation: Ultrasound is used to look at parts of the male reproductive system non-invasively without radiation. Most frequently requested ultrasounds for this purpose include scrotal (to identify varicoceles, testicular masses and epididymal obstruction); trus-rectal (to look at ejaculatory ducts and male accessory glands) and penile (to identify abnormalities in blood flow and measurement of Peyronie’s plaques).

Sperm Function Testing

  • DNA fragmentation
    This test evaluates the sperm DNA for damage (fragmentation), which is indicative of sperm quality. Many sperm samples with normal values, such as shape and motility, may contain DNA abnormalities. A man with a normal semen analysis can have major DNA damage, while a man with poor semen quality can have very little DNA damage. Results are available within 7 working days.
  • Strict Morphology
    This test precisely measures the shape and appearance of sperm, including normal forms, abnormal heads, abnormal tails, and immature germ cells of more than 200 sperm to determine the percentage of normally shaped sperm. Results are available within 7 working days.
  • Reactive Oxygen Species (ROS)
    Reactive Oxygen Species (ROS) is a metabolite that may harmful to cells. Elevated concentration of ROS in semen is often associated with increased concentration of white blood cells (WBC), and could be a potential cause of male infertility.

The level of ROS can be measured in each semen sample. The ROS assay, is designed to identify patients with abnormally high levels of ROS in their semen.

Genetic Testing

  • Cystic Fibrosis
    Mutations of the cystic fibrosis (CF) gene are associated with some male reproductive tract abnormalities, such as absence of the vas deferens (the tubes involved in sperm transport from the testicles to the exterior). It has recently been discovered that 80% of men with bilateral absence of the vas deferens possess abnormalities of the CF gene (not to be confused with having CF). Patients with absence of the vas deferens usually have no associated medical problems and are otherwise well, and they often present only because of their infertility. Recent studies suggest that men with otherwise unexplained decreased sperm counts may have an increased presence of CF gene abnormalities. Identification of these findings will help determine choices for treatment, as well as estimating the risk of transmitting CF to offspring.
  • Fluorescent in situ Hybridization (FISH)
    This test is a labor-intensive test that utilizes fluorescent probes to identify specific chromosomes. This test can identify defects in sperm that can cause poor fertilization and embryo loss (miscarriage). Results are available within 30 days.
  • Y Chromosome Microdeletion
    The Y chromosome contains some important genetic information required for the formation and function of the testes. There are genes on the Y chromosome that affect the production of sperm by the testes. Research has shown that between 10%–20% of males presenting without sperm in the ejaculate carry deletions of Y chromosome DNA. A smaller, but significant, percentage of men with very reduced sperm counts (approximately 5%) also carry similar deletions. The identification of such deletions provides a diagnosis in these patients. In addition, patients carrying Y chromosome deletions and considering ICSI can be counseled as to the risk of infertility in their male offspring.
  • Karyotyping
    The karyotyping and high-resolution chromosomal banding analysis examines both the number and the structure of the chromosomes through microscopic examination and analysis. This test can provide information about whether extra chromosomes are present, whether a chromosome has been lost, whether the information on the chromosomes has been rearranged, or whether large deletions of DNA are present. Abnormalities in the number of chromosomes or the arrangements of genes on the chromosomes can influence male fertility. Identification of these abnormalities may provide a diagnosis, as well as provide implications for treatment.

These genetic tests are offered through the Laboratory for Male Reproductive Research and Testing at the Scott Department of Urology, Baylor College of Medicine. Additional information on these tests can be provided during your office visit.