CHAPTER 3

Causes of Infertility

Experts estimate that 40 percent of couples with infertility have female factor infertility, 40 percent have male factor infertility, and 20 percent of couples suffer from unexplained infertility. Many couples have a combination of factors that may be keeping them from getting pregnant. A thorough evaluation will help your reproductive endocrinologist (RE) determine the cause(s) of your infertility.

Male Factor

Having male factor infertility can mean a variety of things, from a mild reduction in sperm count to a complete absence of sperm to the inability to ejaculate. If a man has anything that inhibits the production, movement, or ejaculation of sperm, that issue will prevent conception from occurring.

Abnormal Sperm

Oligospermia is the production of too little sperm. Clinically, oligospermia is defined as less than 20 million sperm per milliliter of semen. Only a test of the semen can determine this diagnosis. Azoospermia, a condition in which the man produces no sperm, is fairly uncommon, but it's a serious condition because men with no sperm are completely sterile without medical intervention. There are two categories of azoospermia: obstructive and nonobstructive. Nonobstructive azospermia is diagnosed when no sperm are produced by the testes at all, usually a result of genetic, hormonal, or congenital conditions. When sperm cells are produced, but are unable to be ejaculated because of blockages within the reproductive tract, this is known as obstructive azospermia. A vasectomy is one type of obstructive azospermia.

A normal sperm is shaped like a snake, with a long tail and an oval-shaped head. The sperm's shape actually helps it reach and eventually penetrate the egg. A deformity of any kind in the shape of the sperm can affect the quality of movement and the ability of the sperm to penetrate the egg.

Sperm is said to be low quality if there are problems with its shape. This can be a greater problem than having a low sperm count because it can prevent other treatments from being used. However, advances in the treatment of male factor infertility are growing and becoming more widely available.

Sperm that has difficulty is getting to the egg can also present problems to the couple trying to conceive. The movement of the sperm is called its “motility.” The tail of the sperm moves and thrashes in a spiral-like motion to propel the sperm forward and toward the egg. Motility is said to be impaired if the sperm is unable to move through the cervical fluid, or if the sperm has problems with its ability to swim. This can be the result of a defective sperm or the result of a shape that is abnormal.

To fix a low sperm count, doctors can sometimes prescribe medications or even perform a procedure to directly retrieve sperm from the testicles. This sperm can then be used for other procedures, such as intracytoplasmic sperm injection (ICSI), in which the sperm is injected directly into the egg just before an in vitro procedure.

Varicocele

Some men suffer from a problem known as a varicocele, which is a collection of varicose veins located behind and above the testes. When a varicocele is present it restricts blood flow to and from the testes, causing a problem with swelling and with the temperature in the testicles. This heat can damage or kill the sperm and also damage the valves that regulate blood flow around the testes.

You may find a varicocele is in one or both testicles, though it is much more common to find the varicocele in the left testicle. A varicocele is not always an indication that the man is infertile; about 15 percent of men will have a varicocele, and it is the cause of male infertility in about 40 percent of the cases of male factor infertility. Varicoceles may form after injury to the scrotum or testicle, or they can be just a random occurrence.

Varicoceles are more common on the left testicle than the right, occurring in the left in about 85 percent of men who have varicoceles. It is hypothesized that this is because the left spermatic vein is longer. However, it is possible to have varicoceles on both sides. This occurs in about 20 percent of men with this problem.

Surgery may be one option if your partner suffers from varicoceles. This is usually done on an outpatient basis and offers one of the best chances to aid in conception. About 60 percent of men will be able to conceive with no additional treatment beyond surgery. Your partner should have a semen analysis repeated a few months after his surgery to recheck the quality and count of his sperm.

An important factor in the decision on whether to operate is the age of the female partner. Because it can take six months or longer for the full effect to be seen, delaying pregnancy may not be the best course of action when his partner is older or has issues with ovarian reserve.

Retrograde Ejaculation

Retrograde ejaculation can be a problem for men as well. In this situation, the neck of the bladder does not close properly and some or all of his semen is washed back into the bladder during ejaculation. In other words, the semen does not leave the penis through the urethra.

Cloudy urine after ejaculation can be one of the signs that your man suffers from retrograde ejaculation. You may also notice this if the quantity of semen has drastically changed over the years or after surgery to the bladder. It may also be caused by a structural defect the man has had since birth. Sometimes problems like diabetes can also be to blame for retrograde ejaculation.

Hormonal Problems

Hormonal checks and balances are a big part of male factor infertility. Just as the hormonal system for you must be perfectly in balance for everything to run smoothly, your partner's hormones are also very important. Small problems with hormone levels can create big problems with fertility. These are often tested for very early on in the process.

Genetic Conditions

The most common cause of lowered sperm counts is Klinefelter's syndrome, a genetic problem in which the man has an additional X chromosome (XXY instead of XY). This results in little or no sperm production because of the abnormal development of his testicles. He may also suffer from a decreased level of testosterone.

Another potential source of problems with male fertility is a situation in which the man's Y chromosome is missing some genetic material, called Y microdeletions, affecting his ability to produce sperm.

Ask your physician if it is beneficial to have a genetic screening. This is a simple blood test to analyze the sex chromosomes to make sure that there is only one X and one Y. The lab can also check for Y microdeletions to make sure that a genetic issue is not the cause for your partner's low sperm count.

Other Factors Affecting the Sperm

There are a multitude of things that can affect your sperm, from infections to medications to certain chemicals you are exposed to in your daily life. Sometimes this effect is temporary, other times it could be long lasting. For example, having mumps as a child could damage the testicles, permanently destroying the ability of a man to produce sperm. But having the flu a few months back could also temporarily reduce the sperm that the man was making at that time.

Certain drugs, like marijuana and steroids, could also temporarily affect sperm count. Make sure to be honest with your doctor. The physician will not judge you, and having all of the information is an absolute necessity so the doctor can plan the appropriate care for you. Without it, unnecessary surgery or medication might be prescribed when all that is needed is to stop taking the offending drugs.

Ovulatory Disorders

Ovulation is a key step in getting pregnant, so anything that interferes with this process will make pregnancy difficult, or even impossible if ovulation does not occur all together. Anovulation means the complete absence of ovulation, while oligoovulation means irregular ovulation.

PCOS

In addition to estrogen and progesterone, women also produce hormones called androgens. Testosterone, the primary male hormone, is one type of androgen. Androgens are elevated in women with polycystic ovary syndrome, or PCOS, leading to irregular ovulation and symptoms like acne, obesity, abnormal hair growth on your face or chest (hirsutism), or even male pattern baldness.

A medication called Metformin is often used to treat PCOS. While Metformin is not approved for use by the U.S. Food and Drug Administration (FDA) as a treatment for PCOS, it is thought to help correct the insulin resistance that many women with PCOS have. Many patients taking Metformin have reported that their menstrual cycles resume and they find a reduction in the severity of their symptoms.

While PCOS certainly affects your fertility and appearance, it also affects your body in a number of other ways. It is thought to decrease your body's response to insulin, which eventually leads to insulin resistance and diabetes. Additionally, women with PCOS are at greater risk for health problems like heart disease, high cholesterol, and high blood pressure.

Luckily, PCOS-related infertility is usually quite easy to treat. Medications like Clomid and forms of follicle stimulating hormone (FSH) are given to induce ovulation.

Premature Ovarian Failure

Another name for menopause is ovarian failure. Most women go through menopause in their forties or fifties, but sometimes women will start experiencing ovarian failure when they are significantly younger, even in their twenties or thirties. Symptoms include irregular menstrual cycles, changes in libido, vaginal dryness, and hot flashes.

Ovarian failure means that the number and quality of your eggs has decreased. This often comes as a surprise to young women who may not realize that they could be going through menopause at such a young age, especially since the cause of premature menopause is unknown. If you are diagnosed early enough, there may be enough time to try aggressive ovulation induction to help you achieve pregnancy with as little intervention as possible.

Women with premature ovarian failure typically do not respond well to the medication, including the high doses required during IVF treatment. If the ovarian failure has progressed to this point, your doctor may recommend that you use donated eggs.

Cancer treatments, like chemotherapy and radiation therapy, can also cause premature ovarian failure. If you have been diagnosed with cancer, it is important to discuss fertility preservation with your oncologist as soon as possible. There may be ways to preserve some level of fertility, or you may be able to freeze some eggs for use after treatment.

Uterine/Menstrual Conditions

A properly developed uterine lining is just as important to conceiving a child as is regular ovulation. The shape of your uterus is also important to achieving pregnancy; it can help direct the sperm to the Fallopian tubes. The fragile lining helps the fertilized egg find a new home and embed itself in the uterine lining. Any problems with this delicate balance and the fertility level falls.

Scarring of the Uterus

If you have experienced previous uterine surgeries for miscarriages, abortions, or a procedure known as dilatation and curettage (D&C), you may have potential scarring of the lining of the uterus. These scars, which may not be noticeable until you attempt to conceive, can cause you to have interruptions in your menstrual cycles. Though this is not a very common occurrence, it is possible so you'll need to report all surgeries to your physician so he has all the information necessary to make the correct diagnosis. Scar tissue within the uterine cavity is called Asherman's Syndrome. Asherman's Syndrome may cause amenorrhea and infertility.

Endometriosis

Endometriosis is tissue that looks and acts like the lining of the uterus but that grows elsewhere, usually in the abdomen. If you suffer from endometriosis, these tissues will grow and then bleed at the end of every normal menstrual cycle. Because the blood has no place to go, this can cause pain and swelling inside the abdomen or wherever the tissues are located.

I had an abortion in the past, and I really don't want to tell my doctor, should I?
Absolutely! It is very important to tell your physician about every surgery you have had, particularly as it relates to your reproductive tract. You may tell your physician without the presence of your partner if it makes you more comfortable. Your doctor will not be judgmental, but needs to know the medical facts to make the most correct diagnosis.

The most common symptom of endometriosis is painful menstrual cramps, though there may be other symptoms. The good news is that the amount of pain you feel is not necessarily relative to the amount of endometriosis you actually have. You may also experience pain in places like your intestines, if that's where the tissues are growing. Ironically, some women with endometriosis have no symptoms at all.

The only real way to diagnose endometriosis is to do exploratory surgery to see if tissues are growing. This is usually done with a minor surgical procedure, called laparoscopic surgery, which minimizes invasion into your body.

Endometriosis can cause scarring where the tissue grows, and it is most common to find endometriosis growing in or around the Fallopian tubes and ovaries. Scar tissues in these areas can create blockages of the Fallopian tubes or cause you to have difficulties with ovulation.

While endometriosis cannot be always identified as the cause of infertility, it can make your diagnosis more complicated. Endometriosis occurs more in women with fertility issues, and it gets worse with age. This condition is the suspected cause of about 15 percent of all cases of female infertility.

Fibroids

Fibroids are benign, i.e., noncancerous, growths in the smooth muscles of the uterus. The cause of fibroids is unknown; they can vary in number and size and may or may not cause symptoms, including abdominal/pelvic pain, difficult and painful periods, pelvic pressure, and infertility. They've also been implicated in recurrent pregnancy loss. If you are trying to get pregnant and a fibroid is discovered, the treatment of choice is usually surgical removal of the fibroid.

Amenorrhea

Amenorrhea is the lack of a menstrual cycle. You have primary amenorrhea if you have never had a menstrual cycle. If you have previously had regular menstrual cycles but have not had one for more than six months, you are said to be experiencing secondary amenorrhea. You may have had previously irregular cycles but have not had a menstrual cycle for twelve months — that is also known as secondary amenorrhea.

It's important to distinguish between the types of amenorrhea as the causes of the two are very different. Likewise, the testing and treatments for amenorrhea are different depending on whether you are suffering from the primary or secondary loss of your menstrual cycles.

Secondary amenorrhea is the more likely suspect of your fertility problem. Your amenorrhea can be caused by something as simple as the medication you are on. A complex issue related to your hormone production can also produce secondary amenorrhea. Testing by your healthcare practitioner will help determine the cause of your lack of menstrual cycle in about 85 percent of the cases.

Many women complain about lack of periods in the time immediately after they stop taking the pill, but this is usually something that will correct itself in time. Generally within the first six months of discontinuation, more than 99 percent of women will find that their periods return.

Hormonal imbalances are the most common cause of secondary amenorrhea. When prolactin levels are elevated, for example, then the other hormones necessary for keeping your cycle regular are thrown off kilter and your periods may stop.

There are other hormonal causes of secondary amenorrhea, including hypothyroidism and Cushing's syndrome. In hypothyroidism, your body doesn't produce enough of the thyroid hormones that can alter your periods. With Cushing's syndrome, your adrenal glands are overactive, and this causes hormonal fluctuations that prevent your menstrual cycles. Rapid weight loss can also be associated with the loss of your menstrual cycle, as losing a significant amount of weight or body fat in a short time can cause your body to stop ovulating. This is particularly a danger if you suffer from anorexia nervosa. Excessive amounts of exercise — marathon running, for example — can also alter your hormones enough to affect your fertility.

Hormonal Problems

Your hormones play an important role in the regulation of your menstrual cycle and fertility. But it's not just the reproductive hormones that are important. Abnormal levels of other hormones can have a dramatic effect on your fertility as well.

Hyperprolactinemia

Prolactin is a hormone secreted by the brain that promotes lactation. Hyperprolactinemia is an elevated amount of prolactin, a condition that can affect your ability to ovulate and menstruate normally. As with all other ovulatory disorders, this can make it difficult to get pregnant. The most common symptom of hyperprolactinemia is milk leaking from your breasts. Not everyone with hyperprolactinemia experiences this though.

Thyroid Disorders

Your thyroid gland produces hormones that are essential to the functioning of your entire body and general well-being. You can have problems with anovulation if certain thyroid hormones are elevated. This should be one of the primary hormones tested at your initial fertility evaluation.

Recurrent Pregnancy Loss

Having a miscarriage can be very difficult. Some couples have endured multiple miscarriages, and yet don't really have an explanation for why it keeps happening. Testing will sometimes reveal a reason for the losses, and other times it won't. The good news is that in most situations, there is still an excellent chance that you can have a healthy pregnancy.

Thrombophilias

A thrombophilia is an abnormality in the way that your blood clots. Normally this is not an issue, but it can play a role in your ability to maintain a pregnancy.

Thrombophilias are easily diagnosed through a simple blood test, called a thrombophilia panel. This panel is actually composed of a number of tests that look at the various components that make up the normal clotting cascade. And there are a lot of them!

If the test shows an abnormality, you may need to take a medication such as Metanx (which is a combination of B vitamins and folate) or Lovenox (a blood thinner) to help your body correct any clotting issues. Your doctor will advise you when and how long to take the medication. Often, correcting this underlying issue can give you a better prognosis for future pregnancies.

If you experience a loss and require or are given the choice of a D&C, a surgical procedure to remove the pregnancy, make sure to request that the genetics of the specimen are analyzed. This can help give your physician insight into why the loss happened.

Genetics

Having a miscarriage is nature's way of preventing dangerous genetic mutations from entering the human genome. In fact, chromosomal abnormalities are the most common cause for miscarriage. In most cases the abnormality is just a fluke and not evidence of a deeper genetic issue, but it is important to rule that out as a cause. Your doctor will probably check you and your partner's karyotype to make sure that you have the correct number and type of sex chromosomes (i.e., Xs and Ys).

Your physician may also check one or both of you to determine if either of you carry the gene for certain genetic diseases. This is to ensure that you don't inadvertently pass on a severe illness to your child that might have otherwise been prevented.

Uterine Abnormalities

Abnormalities of the uterus can be something that you're born with, like a double uterus or a uterus that is divided by a wall (septate). Some women also have problems with fibroids, growths that can occur any place in the uterus. The good news is that the majority of these problems can be dealt with prior to conception through surgery, thus increasing your chances of a healthy pregnancy.

Tubal Factor

Your Fallopian tubes play a vital role in your fertility. Without them, or if they are blocked, the egg is not able to meet up with the sperm. The most common cause of tubal blockages is infections and trauma. Sexually transmitted infections, like chlamydia and gonorrhea, are frequent culprits because they can cause scarring within the tube itself.

Trauma is the other major cause of tubal scarring. Ectopic pregnancies (pregnancies that implant in the Fallopian tube), endometriosis, and even surgery can all cause damage to tissues in the Fallopian tubes. A ruptured appendix, bowel obstructions, or other type of pelvic surgery can also lead to blockages in the tubes or inflammation that creates a thickened lining. Remember, any thickening of the tubes' lining can create a potential problem for the egg or sperm.

It is also possible to be born with congenital problems of the Fallopian tubes. This can mean that your tubes are blocked, incomplete, or missing due to some genetic fluke prior to your birth. Treatment options for all tubal issues include surgery and/or IVF.

Unexplained Infertility

Perhaps one of the most frustrating diagnoses is unexplained infertility. Even with all the testing that is available to couples today, there will be cases where doctors cannot determine the source of the infertility. The reasons for unexplained infertility vary widely, but many couples will suffer from a source that no one can explain. If you have been given a diagnosis of unexplained infertility, you may feel like nothing can be done to help you. This is not true.

While the cause of your infertility is not known, many practitioners will begin treatments starting with the basics. By attempting the less complicated fertility treatments and advancing toward the higher end of that scale, you will certainly be given every chance of conceiving. Sometimes in the course of treatment, usually IVF, the embryologist will notice something that may give some sort of an explanation. Some examples include a thickened zona, which prevents hatching of the blastocyst, or the failure of any of the eggs to fertilize. For this reason, some infertility doctors will recommend IVF as a diagnostic tool. You may or may not agree with this approach; in fact, some couples opt to continue trying to conceive naturally or opt for other methods of creating a family.

Whatever the cause of your infertility, having a clear picture of what is going on will help your RE treat you more effectively. It's not uncommon for the testing phase to last several weeks, or even a few months, as the specialist narrows down what the problem may be.