Male Infertility Diagnosis

Male ConsultationThis is a difficult time for you and your partner; however, diagnosing the problem is an important milestone. Whether the diagnosis is male-related or female-related, you and your partner need to deal with your infertility as a team regardless of the cause.

If you do not have a fertility diagnosis yet, you may be looking for information about the possible causes. If you already have a fertility diagnosis, you probably want to know as much as you can about it. Understanding your infertility condition will help you feel more in control and allow you and your partner to ask the right questions regarding your fertility treatment options. You may be referred to a urologist who specialises in male infertility.

Educating yourself may take a little research. The information in this section is a valuable resource. It details 12 diagnoses for male infertility, including their symptoms, causes and how they are typically treated.

 

Common Diagnoses for Male Infertility

Azoospermia

Symptoms
Determining whether a man’s semen is lacking sperm cannot be accomplished simply by viewing the semen with the naked eye. A semen analysis by an experienced laboratory is required to determine whether sperm are present or not.

 

Cause
This rare condition is sometimes symptomatic of testicular disease or blockage. Often, the cause of testicular disease is unknown but it may be related to mumps or to genetic disorders such as Y-chromosome deletions. Azoospermia is also symptomatic of Klinefelter’s syndrome. A lack of sperm in the semen can indicate a blockage in the vas deferens.

 

Treatment
The cause of the azoospermia needs to be determined before a treatment plan is formulated. Surgical correction may be attempted to correct a blockage if that is determined to be the cause.

Sperm are produced inside the testes, so a testicular biopsy can be used to retrieve sperm for in vitro fertilisation (IVF) with intracytoplasmic sperm injection (ICSI) in situations where there is azoospermia but the man is still producing sperm. Donor sperm may be an option if it is discovered that no sperm is being produced in the testes.

Bilateral Absence of the Vas Deferens

The vas deferens is a long, tube-like structure that connects the epididymis (the site of sperm storage) to the urethra (the tube that expels sperm). During ejaculation, the sperm flows out of the testicles, through the vas deferens and into the urethra, which leads outside the body through the penis.

Congenital bilateral absence of the vas deferens (CBAVD) is a condition, present from birth, in which the vas deferens is missing. This greatly affects a man’s fertility, since the sperm are in essence stuck in the testicles with no way of reaching the urethra and getting out of the body.

 

Symptoms
Azoospermia is the most significant symptom of this condition. The inability to conceive is another indication that a man may have a fertility issue such as bilateral absence of the vas deferens.

 

Cause
This condition is congenital, meaning that it exists at birth. Up to 65% of the men with CBAVD are cystic fibrosis (CF) carriers. Forty per cent of men with CBAVD may actually have a mild form that only presents itself as CBAVD. It is imperative that at least one partner is screened for cystic fibrosis to be sure that he or she is not passing it on to their offspring. Genetic counselling can help interpret the results.

 

Treatment
If the vas deferens is absent, surgery cannot correct the problem; however, there are surgical options to retrieve sperm from the body. A testicular biopsy can be performed to retrieve sperm for use with an in vitro fertilisation (IVF) cycle. Intracytoplasmic sperm injection (ICSI) is the preferred assisted reproductive treatment because of the immature nature of testicular sperm.

Couples may instead opt to use donor sperm.

Cryptorchidism

The scrotum is a muscular structure that houses the testes. For normal sperm production to occur, the testes must be a few degrees cooler than the rest of the body. For this reason the scrotum is positioned outside the body.

Fertility problems can develop if the testes do not descend into the scrotum within the first month or so after birth. Surgery can repair undescended testes, but permanent damage can result if the testes do not descend early enough.

 

Symptoms
Cryptorchidism is a likely diagnosis when a man’s testes have not descended into the scrotum.

 

Cause
The cause of cryptorchidism is unknown.

 

Treatment
Surgery to correct undescended testes is usually performed in childhood; however, the results of the surgery can impact on a man’s fertility later in life.

Epididymitis

Sperm are stored in the epididymis, where they undergo the final maturation process. If infected, the epididymis can malfunction and become a hostile environment for the sperm.

 

Symptoms
The most obvious signs of epididymitis are swollen, painful testicles.

 

Cause
Many pathogens can cause epididymitis, including those that cause sexually transmitted diseases.

 

Treatment
The treatment for acute epididymitis is well accepted and effective. It includes antibiotic therapy, bed rest, scrotal support (“supporter”) and oral anti-inflammatory drugs (such as Ibuprofen). Each of these modes of treatment is important. Chronic epididymitis is more of a problem (though less severe) because its symptoms seem to persist even after the initial treatment. In these cases, a second round of therapy may be helpful. Beyond this, longer-term anti-inflammatory medication is recommended. Surgical treatment for chronic epididymitis is an uncommon last resort.

Hyperprolactinemia

Hyperprolactinemia is the excessive production of the hormone prolactin (which produces milk in pregnancy and suppresses ovulation). In men, abnormal prolactin levels can lead to sexual dysfunction. It can be symptomatic of hypothyroidism (a condition in which the body lacks thyroid hormone).

 

Symptoms
In men, hyperprolactinemia may be associated with impotence, visual disturbances, sudden weight loss or gain, fatigue or depression.

 

Causes
Hyperprolactinemia can be triggered by factors such as:

  • Tumours on the pituitary gland (known as prolactinomas).
  • Thyroid gland disorder.
  • Surgical scars on the chest wall, and other chest wall irritations (such as shingles).
  • Medications including some tranquillisers, high blood pressure medications and antinausea drugs.
  • Oral contraceptives and recreational drugs (such as marijuana).

 

Treatment
Both drug and surgical methods are used to treat hyperprolactinemia:

  • Bromocriptine is used to reduce excessive prolactin levels.
  • Surgery is used to remove tumours (a riskier procedure).

Immunological Infertility

Immunological infertility occurs most often in men. An infection, cancer or a vasectomy can cause the male immune system to react to its own sperm as if they were invading cells. The immune system will attack the sperm and render them useless.

If the cause of the immunological infertility is female-related, the current theories are that cervical mucus can kill sperm, or the uterus can reject the embryo. However, both theories are unproven.

 

Symptoms
Although there may not be obvious signs, a previous infection that was not successfully treated could still be present in the body.

 

Cause
The exact cause of immunological infertility is still unproven, but may be triggered by past or present infection, cancer or vasectomy (with or without reversal).

 

Treatment
Treatment for this disorder ranges from drug therapy to assisted reproduction:

  • Steroids: Cortisone, prednisone and dexamethasone can reduce the body’s immune system response.
  • Antibiotics: Antibiotics are used when it is believed the condition is a result of a bacterial infection (theorised by only some healthcare providers).

Klinefelter’s Syndrome

Klinefelter’s syndrome, a chromosomal disorder in men, is characterised by the absence of sperm in the ejaculate or a low sperm count. Klinefelter’s is a genetic disorder. In many cases, sperm is still produced in the testes and can be retrieved with a testicular biopsy. However, this is an inherited condition and these patients should consult a genetic counsellor before attempting conception, since some of the sperm will pass along an extra X chromosome. Chromosomal testing of the embryos is one option to enable these couples to have healthy children.

 

Symptoms
Several physical symptoms, such as small testes and small penis, can suggest Klinefelter’s is present. Excess gonadotropins – hormones that in men stimulate testicular function – is another symptom. Children with Klinefelter’s syndrome may be slow learners and be tall and thin.

 

Cause
An extra X chromosome (XXY instead of XY) causes Klinefelter’s syndrome. Advanced maternal age can increase the risk.

 

Treatment
Men with this syndrome usually require infertility treatment to have children. The focus of treatments is not to correct the syndrome but to harvest any sperm the man has for use in assisted reproductive procedures such as intracytoplasmic sperm injection (ICSI) – a specialised form of in vitro fertilisation (IVF). If this is not possible, donor sperm is another option.

Seven per cent of infertile men have some form of chromosomal abnormality. Ten to 15% of men with azoospermia (absence of sperm) will have an abnormality, compared with 5% of men with oligospermia (low sperm count) and only 1% of men with normal sperm counts. Two-thirds of these chromosomal abnormalities are XXY, Klinefelter’s syndrome.

Chromosomal abnormalities can be inherited, so the couple should have genetic counselling to understand the risk of passing this on to their offspring, as well as the increased risk of miscarriages.

Occlusion

Occlusion is the medical term for any blockage in a woman’s or man’s reproductive system. A blockage in the male duct system (the epididymis or the vas deferens) may prevent sperm from reaching the ejaculate.

 

Symptoms
This condition can only be diagnosed by transrectal ultrasound, vasography or seminal vesiculography.

 

Cause
Causes include:

  • Scar tissue from abdominal surgery.
  • Congenital conditions.
  • Sexually transmitted diseases.
  • Hernias.
  • Vasectomies (commonest).

 

Treatment
The treatment option is a vasovasostomy – a procedure in which the doctor stitches the inner and outer layers of the vas deferens back together. The procedure restores continuity to the vas deferens, allowing sperm to travel from the testicles to outside of the body.

A testicular biopsy can also be performed to retrieve sperm; however, since the sperm is less mature than ejaculated sperm, the couple will need IVF with ICSI. The cost of a vasovasostomy is high compared with IVF and ICSI, and few will consider this option because it does not attract a Medicare rebate.

Retrograde Ejaculation

Retrograde ejaculation is a condition in which semen is ejaculated into the bladder instead of exiting the body through the penis. Anatomically, the spermatic duct joins the path of the urethra for semen to exit the body. Caused by a malfunction in the valves that control the flow of urine versus semen through the urethra, this rare condition is sometimes the result of diabetes or the removal of the prostate gland. Normally, the valve between the bladder and the urethra constricts during ejaculation, or conversely, the valve between the vas deferens and the urethra closes during urination.

For men diagnosed with retrograde ejaculation, sperm may be retrieved from collected urine processed by the andrology laboratory. Because the acidity of urine can be detrimental to sperm, a man may take neutralising sodium bicarbonate to allow collection of more viable sperm from the urine. Alternatively, a man can empty his bladder and have a catheter inserted to fill the bladder with laboratory solution. After ejaculation, the fluid is collected, the liquid removed and the sperm harvested.

 

Symptoms
No ejaculate indicates retrograde ejaculation.

 

Cause
The most common reason for retrograde ejaculation is previous prostate surgery. Other possible causes are cancer, diabetes, multiple sclerosis and surgeries involving the abdomen or pelvic or genital areas. Also, certain medications used to treat heart disease and high blood pressure can cause the bladder neck to relax. In some cases, the exact source of the problem is unknown.

 

Treatment
Healthcare providers commonly approach this condition in one of two ways: through the use of drugs or assisted reproductive technology.

Antihistamine drugs are used to tighten the bladder opening in an attempt to prevent the sperm from flowing backwards. Various assisted reproductive procedures, such as testicular biopsy(ICSI) and (IVF), can bypass the normal way sperm is deposited into the vagina.

Sperm Problems

The chances of conception are reduced when sperm concentrations are lower than normal, a condition known as oligospermia. If sperm have poor swimming ability (asthenozoospermia, affecting motility) or are misshapen (teratozoospermia, relating to morphology), the sperm’s ability to fertilise the egg is compromised.

 

Symptoms
Semen analysis is the only way to detect these abnormalities.

 

Cause
Sperm problems can be caused by hormonal imbalances and genetic abnormalities. Physical causes such as a blockage in the vas deferens can prohibit sperm transportation. Diabetes, which in some cases leads to retrograde ejaculation, can also cause sperm problems.

Environmental conditions may play a role as well. Smoking, alcohol and the use of prescription and recreational drugs may all be contributing factors. Also, frequent exposure to high temperatures, found in saunas, for instance, can cause these abnormalities.

 

Treatment
Depending on the cause, treatment options are:

Varicocele

Varicoceles are enlarged veins inside the testicle. The prevailing theory on the effects of varicoceles on fertility is that these enlarged veins may increase the temperature of the testicles, resulting in impaired sperm production.

 

Symptoms
One testicle significantly larger than the other may be a sign of varicocele. An ultrasound can determine whether a vein is enlarged.

 

Cause
Currently there is no known cause of varicocele.

 

Treatment
Varicocele can be surgically repaired through balloon surgery and microsurgery. ICSI can circumvent any of the problems varicocele might create.

There is no evidence that correction of varicocele improves fertility.

Vasectomy Reversal

Vasectomy reversals are not always successful and depend on when the vasectomy was performed, the amount of vas removed and circulating antibody levels. The procedure can cause a man to develop other problems, such as blockages, immunological issues and an infertility condition named azoospermia.

 

Symptoms
None.

 

Cause
Some men who have had a vasectomy change their minds and want the condition reversed.

 

Treatment
The treatment option is a vasovasostomy or reversal of vasectomy, a procedure in which the doctor stitches together the inner and outer layers of the vas deferens. The procedure brings back continuity to the vas deferens to restore sperm in the ejaculate. Success of the procedure depends on a number of factors and should be discussed with a urologist or a specialist. It is expensive, takes time and has a lower level of success compared with IVF. In Australia there is no Medicare support for reversal of vasectomy. There are, however, Medicare rebates for IVF and testicular sperm retrieval.

It is not uncommon for men to develop antisperm antibodies in the years after vasectomy. If a man has had a vasectomy for more than 10 years, it’s possible his body will not produce viable sperm.

 

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To learn more about male infertility, please read our Male Fertility Fact Sheet or visit our Patient Information Booklets page and download the PDFs “Overcoming Male Infertility” and “In the Know – What No One Tells You About Male Fertility”.

 

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