Medical Investigations for Men

If you’re having problems conceiving, understanding the medical investigations you may need helps ensure you get the right tests and the right treatment, and puts you firmly in control of your fertility journey. If you’re part of a heterosexual couple, at the same time the woman is being investigated, it’s vital the male partner is also assessed. Otherwise, if you’re someone who is providing sperm to your fertility treatment, it’s important you have the appropriate tests too. We cover all of these areas in much more detail in The Fertility Book: Your Definitive Guide to Achieving a Healthy Pregnancy. In this section, we provide an overview of:

• Your starting point
• Hormone problems
• Varicocele
• Infection
• The semen analysis
• Impaired sperm morphology (teratozoospermia)
• Reduced sperm motility (asthenozoospermia)
• Infection
• Other semen parameters
• Testing for sperm DNA fragmentation
• Antisperm antibodies (ASABs)
• Hormone testing
• Testosterone
• Follicle-stimulating hormone (FSH) and luteinising hormone (LH)
• Testicular exploration and biopsy
• Chromosomal analysis
• Other Causes of male infertility and treatment
• Undescended testes (cryptorchidism)
• Measles, mumps, rubella and male fertility
• Chickenpox and male fertility
• Sexually transmitted infections
• Other causes of male infertility
• Hormone problems: Hypogonadism
• General health and lifestyle factors
• Oligoasthenozoospermia
• Azoospermia
• Oxidative stress and reactive oxygen species (ROS)
• Obstructive azoospermia
• Surgical trauma and vasectomy
• Surgical collection of sperm
• Idiopathic male factor infertility: When no cause has been found
• Sexual dysfunction and psychosexual problems
• Retrograde ejaculation
• Testicular failure
• Take-home message

Your starting point

The key test of male fertility is a semen analysis. Ideally this should be assessed on at least two occasions because of the natural variation that occurs in sperm counts and function. If results are normal, then further investigations are not usually needed. If problems are identified, you should be examined to ensure that there are no abnormalities of the genitalia and a general examination performed to assess general health, body weight and signs of hormone deficiency. A sexual health screen, looking for infections such as chlamydia, is also usually done. There are various issues that can be picked up during these initial checks.

Hormone problems

If a man has a deficiency of androgen hormones (the main one being testosterone) then the symptoms that he has will depend upon how long the deficiency has been there. General symptoms include lack of energy, reduced sex drive, weight gain and reduced beard growth. If the deficiency started before puberty he may have a high-pitched voice, small, soft testes and penis, lack of adult hair and decreased muscle mass. If testicular insufficiency (hypogonadism) develops after puberty the skin becomes fine and there may also be growth of the breasts (gynaecomastia).

Varicocele

Another possible problem is a varicocele, which is a swelling of the testicular veins within the scrotum that is best felt when standing. It may cause discomfort and possibility reduced fertility. Varicoceles are more common on the left, because the veins drain differently on the left and right sides. If you’re found to have a varicocele, it can be graded and investigated by ultrasound scan and other imaging techniques. Varicoceles can affect semen parameters, which may worsen with time, but a bigger varicocele doesn’t mean worse sperm dysfunction. Treatment is usually surgery or embolisation of the vessels to block, which can be done by an experienced radiologist, though there is still no clear consensus about treating varicoceles.

Infection

If you notice changes in seminal colour or smell, you may have an infection of the epididymis, prostate or seminal vesicles. You should therefore have a semen sample sent for assessment by a microbiology laboratory and further testing.

The semen analysis

In order to have a semen analysis, a man has to produce a sample by masturbation into a clean, dry container and delivered to the laboratory within 30 minutes – most fertility clinics have private rooms on site, so samples can be assessed quickly. It’s important to abstain from ejaculation for three days before the test.

The World Health Organization (WHO) criteria for the semen analysis are shown in the table.

You can find out more about what your results mean in The Fertility Book: Your Definitive Guide to Achieving a Healthy Pregnancy.

Impaired sperm morphology (teratozoospermia)

Sperm morphology (shape) provides a good reflection of sperm function. The acceptable percentage of normal sperm is 4 per cent as men appear to make millions of abnormal sperm (it only takes a single sperm remember!), so there is a built-in redundancy. It is now felt that teratozoospermia on its own has little influence on fertilisation, pregnancy or live births.

Reduced sperm motility (asthenozoospermia)

Reduced motility means the sperm doesn’t swim so well and this can be caused by infection, antisperm antibodies or defects within the sperm tail. You can get misleading results if there is no facility to produce a sample near the laboratory and there is a delay between production and arrival at the laboratory. In other words, the sperm isn’t sluggish – it’s taken too long for sperm to be tested. You can find out more about how to ensure your sperm sample is suitable for assessment in in The Fertility Book: Your Definitive Guide to Achieving a Healthy Pregnancy.

Infection

Sometimes bacteria are found in the semen analysis. Bacteria are most often thought to come from contamination at the time of sperm production as when the analysis is repeated there isn’t usually an underlying infection. If a lower genital tract infection is suspected, a Stamey–Meares test should be performed. This involves collecting three small samples of urine in succession to provide more information about where any infection is coming from. You can find out more about this in The Fertility Book: Your Definitive Guide to Achieving a Healthy Pregnancy.

Other semen parameters

Though not used in routine testing, there are other sperm tests available.

Testing for sperm DNA fragmentation

Sperm function can be damaged by what’s known as oxidative stress caused by reactive oxygen species (ROS). High levels of ROS are produced as a result of infection or inflammation. Seminal plasma (fluid) contains a rich concentration of antioxidants to try to protect sperm from these toxic effects, which may cause genetic (DNA) damage to the sperm and potentially also to a resultant embryo. Testing sperm for DNA damage (fragmentation) has therefore become more common and some believe it to be better at predicting chance of pregnancy than traditional semen parameters. Doctors don’t agree as to whether testing DNA fragmentation can help or what can be done for men based on their results. There is some evidence for the use of diet and nutritional supplements, although this is still largely an area of ongoing research. We explain the evidence for some of these in our Fertility and Preconception Care course and in in The Fertility Book: Your Definitive Guide to Achieving a Healthy Pregnancy.

Antisperm antibodies (ASABs)

Another factor that can affect male fertility is the presence of ASABs on the surface of sperm. ASABs are proteins produced in the testes that can cause sperm to stick together. ASABs may develop in men when the blood–testis barrier breaks down, for example after injury or surgery, such as vasectomy, and they may affect motility and fertilisation. We don’t have good treatment options for ASABs and, though there are different tests available to detect them, there is no medical consensus on which test is the best. We cover ASABs in more detail in The Fertility Book: Your Definitive Guide to Achieving a Healthy Pregnancy.

Hormone Testing

If a man has severe oligospermia or any of the symptoms we described above that suggest hormone problems, he will need some blood tests to check levels.

Testosterone

One of the most important hormones to measure is testosterone. Levels vary across the day, with the highest levels in the morning.

Follicle-stimulating hormone (FSH) and luteinising hormone (LH)

FSH and LH are two other hormones that are often tested to identify specific problems with male fertility and we cover this in detail in The Fertility Book: Your Definitive Guide to Achieving a Healthy Pregnancy.

Testicular exploration and biopsy

If a physical blockage is suspected from these tests, surgery may be needed to open up the scrotum and examine the testis under anaesthetic. If an obstruction is found, it may be possible to fix it as part of the operation. A biopsy of the testes will help diagnose severe oligospermia or azoospermia.

Chromosomal analysis

If from the above tests, primary testicular failure is suspected, a genetic profile (karyotype) test is needed to make a diagnosis as to the cause. You will be offered genetic counselling if a problem is found. A karyotype test is usually recommended for men with azoospermia and for men with semen parameters that are severely impaired (severe oligospermia – a count of < 5 million/ml) as there is a higher risk of problems with the chromosomes, including the sex chromosomes. We cover common genetic conditions in The Fertility Book: Your Definitive Guide to Achieving a Healthy Pregnancy.

Other Causes of male infertility and treatment

We can’t always find a reason for male factor infertility and only a small proportion of men will get a clear diagnosis as to the cause. Most will fall under the heading of ‘idiopathic’ male factor infertility (that is, ‘no cause has been found’) for which there are no specific medical therapies, although there is a lot of interest in lifestyle, diet and vitamin supplements. We cover the evidence for this and what may help in our Fertility and Preconception Care course.

It may sound strange, but the semen analysis results do not guide us to a specific underlying problem in the man, so we rarely identify a specific dysfunction to treat. Instead, most therapies are based on enhancing sperm quality in vitro – that is, in the laboratory, with either intrauterine insemination (IUI) or, more usually, IVF with or without ICSI. While couples with severe male factor infertility are likely to benefit from IVF/ICSI, ‘mild to moderate’ male subfertility is poorly defined and treatment strategies vary.

As well as concerns about a deterioration of semen quality globally, the incidence of certain congenital anomalies, such as hypospadias (when the urethra opens through the underside of the penis), undescended testes and testicular cancer, is also rising. It has been suggested that environmental pollutants containing oestrogens and other toxins may be to blame, and we look at those in detail in The Fertility Book: Your Definitive Guide to Achieving a Healthy Pregnancy.

Undescended testes (cryptorchidism)

Boys who are born with undescended testes have a 40 per cent rate of abnormalities in the epididymis and vas deferens, compared with 0.5–1 per cent in the normal population. Most men with a history of undescended testes are fertile but have a reduced sperm count. The undescended testis produces few, if any, sperm after surgery to fix the testis in the scrotum (orchidopexy) as the shrunken testis is lacking in sperm-making cells. When both testes are undescended in adult men, they have a very poor prognosis for fertility. We explain more about undescended tests in The Fertility Book: Your Definitive Guide to Achieving a Healthy Pregnancy.

Measles, mumps, rubella and male fertility

Having a mumps infection after puberty can be serious for male fertility as it may significantly affect spermatogenesis. We advise having the MMR (measles, mumps and rubella) vaccination if you haven’t already had it. This prevents infection and therefore the development of inflammation of the testes (orchitis) that happens with mumps.

Chickenpox and male fertility

Chickenpox can also cause severe orchitis. If this happens, it is essential to try to minimise damage to the testes, which occurs as pressure increases inside the testes during infection. Steroid treatment may help and occasionally an operation is needed.

Sexually transmitted infections

Chlamydia trachomatis is now the most common sexually transmitted infection (STI) in developed countries, causing both male and female infertility. Gonorrhoea may cause irreversible obstruction of the spermatic ducts, but infection can be prevented with the use of barrier methods of contraception.

Other causes of male infertility

Other issues that can affect male fertility include injuries involving severe trauma to the testes, occupational factors such as exposure to environmental toxins in your workplace, drugs (both recreational and some medications), chemotherapy/radiotherapy and older age. We explain these in more detail in The Fertility Book: Your Definitive Guide to Achieving a Healthy Pregnancy.

Hormone problems: Hypogonadism

Hormonal (endocrinological) dysfunction as a cause of male infertility is uncommon but responds well to treatment. There are congenital causes of male hypogonadotropic hypogonadism – a syndrome where the testes fail because of low levels of gonadotrophin hormones from the pituitary gland and we explain more about this in The Fertility Book: Your Definitive Guide to Achieving a Healthy Pregnancy.

Hypogonadotropic hypogonadism can occur in men as well as in women and is treated by injecting gonadotrophins either in the form of human chorionic gonadotropin (hCG) or human menopausal gonadotropin (hMG).

Testosterone is used as a hormone replacement treatment for men whose testes are not producing sufficient levels for health and well-being, but should not be given when trying to father a child as it will suppress sperm production, in a similar way to oestrogen in the contraceptive pill that suppresses ovulation in women.

General health and lifestyle factors

Alcohol, body weight, diet, smoking, exercise, testicular warming, drug use, anabolic steroids and other factors that can all affect male fertility. Remember that sperm takes about twelve weeks to be made, so if you are found to have a sperm problem then any change in lifestyle may take at least three months to take effect. You can learn more about factors that may help and the evidence behind them in our Fertility and Preconception Care course.

As well as being overweight, any chronic debilitating illness may lead to infertility in men. There are also a few notable conditions that particularly affect male fertility, including diabetes, chronic renal failure and thyroid disease. An acute illness can also result in a temporary loss of sperm production.

Oligoasthenozoospermia

The majority of men with subfertility have oligoasthenozoospermia (reduced sperm numbers of low motility and morphology) of unknown cause. At present, little can be done for this in the way of direct medical treatment, although assisted conception procedures such as IUI or IVF (with or without ICSI) may be of benefit.

Azoospermia

If you have azoospermia (absence of sperm), it may be due to a hormonal deficiency, genetic abnormality or absence or obstruction of the vas deferens and spermatic ducts. There are some chromosomal causes of azoospermia, such as Klinefelter syndrome. There are other genetic abnormalities that may result in either azoospermia or severe impairment of fertility and we explain these in The Fertility Book: Your Definitive Guide to Achieving a Healthy Pregnancy.

Even if you do have azoospermia, it’s likely you have a small area of normal sperm production within the testes. As many as 50 per cent of men with supposed untreatable infertility may produce sperm. It’s possible to recover sperm either from the ejaculate using special sperm preparation techniques. Although numbers of sperm found may be low, if mature sperm are present, they can be frozen as there will usually be sufficient for ICSI. There is, however, a high rate of chromosomal abnormalities in the sperm if levels of FSH are high and these may possibly be transmitted to children conceived by ICSI.

Oxidative stress and reactive oxygen species (ROS)

Sperm can be damaged by ROS and there are lifestyle factors that make it worse. This damage may affect the membrane and thereby motility of the sperm and prevent it fertilising an oocyte. Furthermore, ROS may also directly damage sperm DNA and this affects the father’s genetic contribution to the embryo. We discuss dietary factors, lifestyle and supplements that may help and the evidence behind these in our Fertility and Preconception Care course and in The Fertility Book: Your Definitive Guide to Achieving a Healthy Pregnancy.

Obstructive azoospermia

No underlying cause can be found in over half of patients with obstruction of the epididymis. However, infection is often the cause, particularly in developing countries, and include gonorrhoea, chlamydia, filariasis, tuberculosis and bilharzia.

Surgical trauma and vasectomy

Surgical obstruction of the vas deferens may happen by accident during childhood surgery for a hernia in the groin area or during the repair of a hydrocele (build-up of fluid) of the testis. A vasectomy is the deliberate blockage of the vas deferens to make a man infertile. Reversal of this procedure can be attempted by chances of success reduce the more time has elapsed since the original surgery. We cover this in detail in The Fertility Book: Your Definitive Guide to Achieving a Healthy Pregnancy.

Surgical collection of sperm

If vasectomy reversal fails or if the operation isn’t feasible, or sometimes for other cases of male infertility, it may be possible to collect sperm surgically from either the epididymis or the testis. We explain the different techniques in The Fertility Book: Your Definitive Guide to Achieving a Healthy Pregnancy.

With all these techniques sperm is frozen for use in IVF combined with ICSI as there isn’t usually enough good-quality sperm for either insemination or conventional IVF.

Idiopathic male factor infertility: When no cause has been found

If there is no obvious reason for problems with sperm, as is the case in around half of men, the only options are assisted conception: IUI or IVF with or without ICSI.

Sexual dysfunction and psychosexual problems

Problems with sex are more common than you may think and trying to conceive can put you under even more pressure. Counselling can help and your clinic should be able to refer you for specialist support. We explain more about this including erectile dysfunction in The Fertility Book: Your Definitive Guide to Achieving a Healthy Pregnancy.

Retrograde ejaculation

Retrograde ejaculation is another fairly common problem where sperm is ejaculated backwards into the bladder rather than through the penis and may occur after prostate surgery, with diabetes or multiple sclerosis. in our Fertility and Preconception Care course and in The Fertility Book: Your Definitive Guide to Achieving a Healthy Pregnancy.

Testicular failure

Sometimes we find that the testicles themselves have failed, which can happen for various reasons, including high levels of FSH and LH, congenital defects, viral orchitis (e.g. mumps), trauma, testicular torsion, cancer or toxins. Hormone therapy doesn’t help but, in recent years, there has been progress in treating men with azoospermia and high levels of FSH, where previously the only option was donor insemination. If the testes are not completely shrunken and at least one is of a normal size, a biopsy of the testes can be attempted as sperm can sometimes be found. We explain more about this in The Fertility Book: Your Definitive Guide to Achieving a Healthy Pregnancy.

Take-home message

Causes of male infertility can be complex and it is always important to ensure you are thoroughly investigated if your semen analysis isn’t normal. There are dietary and lifestyle factors that can help but this but not prevent you from having the appropriate medical investigations. We cover both of these aspects of male fertility in much more detail in our Fertility and Preconception Care course and in The Fertility Book: Your Definitive Guide to Achieving a Healthy Pregnancy.

References

1. Adam Balen and Grace Dugdale. The Fertility Book: Your Definitive Guide to Achieving a Healthy Pregnancy. Penguin Random House (Vermilion) 2021
2. Irani, M., Amirian, M., Sadeghi, R., Le Lez, J., & Roudsari, R. L. (2017). The effect of folate and folate plus zinc supplementation on endocrine parameters and sperm characteristics in sub-fertile men: A systematic review and meta-analysis. Urology Journal, 14(5), 4069–78; Salas-Huetos, A., Bulló, M., & Salas-Salvadó, J. (2017). Dietary patterns, foods and nutrients in male fertility parameters and fecundability: A systematic review of observational studies. Human Reproduction Update, 23(4), 371–89.

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