Infertility: Causes, Diagnosis & Treatment Options

What Is Infertility and When Should You Seek Help?

Infertility is defined as the inability to conceive after 12 months of regular unprotected intercourse. Couples where the woman is over 35 should seek evaluation after 6 months, and those over 40 or with known fertility issues should consult a specialist immediately when trying to conceive.

Infertility is a medical condition that affects the reproductive system, preventing conception of children. While the clinical definition requires 12 months of trying, this timeframe exists because most fertile couples (approximately 85%) will conceive within one year of regular unprotected intercourse. The remaining 15% may have underlying issues that require medical evaluation and potential treatment.

The psychological and emotional impact of infertility should not be underestimated. Many couples experience significant stress, anxiety, and feelings of loss when facing fertility challenges. Understanding that infertility is a medical condition, not a personal failing, is an important first step. Modern reproductive medicine offers effective treatments for the majority of couples, with success rates continuing to improve as technology advances.

It's important to distinguish between primary and secondary infertility. Primary infertility refers to couples who have never achieved a pregnancy, while secondary infertility affects those who have previously conceived but are now unable to achieve another pregnancy. Both types are common and can have different underlying causes that require proper evaluation.

When to Seek Medical Help

The timing for seeking fertility evaluation depends on several factors, primarily the woman's age. The following guidelines help determine when to consult a fertility specialist:

• Women under 35: Seek evaluation after 12 months of regular unprotected intercourse without conception
• Women 35-39: Seek evaluation after 6 months of trying
• Women 40 and over: Seek immediate evaluation when beginning to try to conceive
• Known fertility issues: Seek evaluation immediately regardless of age (irregular periods, previous pelvic surgery, known male factor issues)

Early evaluation doesn't necessarily mean immediate treatment. Many couples benefit from understanding their fertility status, which can guide decisions about timing and whether intervention may be helpful. The evaluation process itself is relatively straightforward and can provide valuable information.

What Causes Infertility in Women and Men?

Infertility causes are distributed roughly equally: about 40% are due to female factors (ovulation disorders, tubal damage, endometriosis), 40% to male factors (sperm abnormalities, blockages), and 20% are either combined or unexplained. Many causes are treatable with modern reproductive medicine.

Understanding the underlying causes of infertility is essential for determining appropriate treatment. The reproductive process requires multiple steps to function correctly: the ovaries must release a healthy egg, sperm must fertilize the egg, the fertilized embryo must travel through the fallopian tube to the uterus, and implantation must occur in the uterine lining. Problems at any of these steps can result in infertility.

Importantly, infertility is not solely a "women's issue" as was historically believed. Male factor contributes to approximately 40% of infertility cases, making it essential that both partners undergo evaluation. In about 20% of cases, both partners have contributing factors, and in another 10-20%, no clear cause can be identified despite thorough testing.

Female Factors

Female infertility can result from issues affecting the ovaries, fallopian tubes, uterus, or hormonal system. The most common causes include:

Ovulation disorders account for about 25% of female infertility cases. Polycystic ovary syndrome (PCOS) is the leading cause, affecting up to 10% of women of reproductive age. PCOS disrupts the normal hormonal signaling required for regular ovulation. Other ovulation disorders include hypothalamic dysfunction (often related to stress or extreme weight changes), premature ovarian insufficiency (when ovarian function declines before age 40), and hyperprolactinemia (elevated levels of the hormone prolactin).

Tubal factors affect the fallopian tubes' ability to capture the egg and allow sperm to reach it. Pelvic inflammatory disease (often from untreated chlamydia or gonorrhea), previous ectopic pregnancy, or prior pelvic surgery can damage or block the fallopian tubes. Even partial blockage can significantly reduce fertility.

Endometriosis occurs when tissue similar to the uterine lining grows outside the uterus, commonly on the ovaries, fallopian tubes, and pelvic surfaces. It affects approximately 10% of women of reproductive age and can cause infertility through multiple mechanisms: damaging eggs and sperm, creating adhesions that distort anatomy, and producing an inflammatory environment that impairs implantation.

Uterine factors include fibroids (benign tumors in the uterine wall), polyps (growths in the uterine lining), uterine abnormalities present from birth, and scarring from previous surgeries or infections. These conditions can interfere with embryo implantation or early pregnancy development.

Male Factors

Male infertility typically involves problems with sperm production, function, or delivery. The main categories include:

Abnormal sperm production or function is the most common cause of male infertility. This can result from genetic conditions, undescended testicles, infections, varicocele (enlarged veins in the scrotum that heat the testicles), or exposure to toxins. Chemotherapy and radiation can also damage sperm production, sometimes permanently.

Problems with sperm delivery include blockages in the reproductive tract, sexual dysfunction (erectile dysfunction or premature ejaculation), retrograde ejaculation (when semen enters the bladder instead of exiting through the penis), and structural abnormalities. Some men are born without the vas deferens, the tubes that carry sperm from the testicles.

Hormonal imbalances affecting the hypothalamus, pituitary gland, or testicles can disrupt sperm production. Low testosterone, high prolactin, or thyroid disorders can all impact male fertility.

Environmental and lifestyle factors play a significant role in male fertility. Excessive heat exposure (hot tubs, saunas, laptop use on lap), smoking, heavy alcohol use, obesity, and certain medications can all reduce sperm quality. Unlike women, men produce sperm continuously throughout life, so these factors can be modified to improve fertility.

How Is Infertility Diagnosed and Tested?

Infertility diagnosis involves evaluation of both partners. For women, this includes hormone blood tests (FSH, LH, AMH), ovulation assessment, and imaging of the uterus and fallopian tubes. For men, a semen analysis evaluates sperm count, motility, and morphology. Additional genetic testing may be recommended based on initial findings.

A comprehensive fertility evaluation typically begins with a thorough medical history and physical examination for both partners. The physician will ask about menstrual cycle regularity, previous pregnancies, sexual history, medical conditions, surgeries, and lifestyle factors. This information helps guide which specific tests are most appropriate.

The diagnostic process is designed to systematically evaluate all aspects of reproduction that could be affected. Most basic fertility testing can be completed within one to two menstrual cycles, allowing couples to move forward with treatment planning relatively quickly if indicated.

Female Fertility Testing

Evaluation of female fertility focuses on three main areas: ovarian function, tubal patency, and uterine health.

Ovarian reserve testing assesses the quantity and quality of remaining eggs. This typically includes blood tests for follicle-stimulating hormone (FSH) and estradiol on day 3 of the menstrual cycle, along with anti-Müllerian hormone (AMH), which can be measured at any time. A transvaginal ultrasound counts antral follicles (small follicles visible in the ovaries), providing another measure of ovarian reserve. While these tests can't predict whether conception will occur, they help guide treatment decisions and expectations.

Ovulation assessment confirms whether and when ovulation occurs. This may include blood progesterone levels measured about one week after expected ovulation, tracking basal body temperature, using ovulation predictor kits at home, or serial ultrasounds to monitor follicle development. Women with regular 25-35 day cycles are usually ovulating normally.

Uterine and tubal evaluation examines the structural integrity of the reproductive tract. Hysterosalpingography (HSG) is an X-ray procedure where dye is injected through the cervix to visualize the uterine cavity and confirm that fallopian tubes are open. Alternatively, saline infusion sonohysterography uses ultrasound and saline to evaluate the uterine cavity. Hysteroscopy, a procedure where a small camera is inserted into the uterus, allows direct visualization and treatment of uterine abnormalities.

Male Fertility Testing

Male fertility evaluation is simpler than female testing but equally important. The cornerstone is semen analysis.

Semen analysis evaluates multiple sperm parameters after 2-5 days of abstinence. Key measurements include sperm concentration (count), motility (movement), and morphology (shape). According to WHO 2021 criteria, normal values include concentration above 16 million per milliliter, total motility above 42%, and normal morphology above 4%. Abnormalities in any of these parameters can impact fertility, though even men with suboptimal results may be able to father children naturally or with assistance.

Hormone testing for men typically includes testosterone, FSH, and LH. These tests help identify hormonal causes of low sperm production. Additional tests such as prolactin or thyroid hormones may be ordered based on symptoms.

Genetic testing may be recommended for men with very low sperm counts. This can include karyotype (chromosome analysis) and testing for Y chromosome microdeletions. Men with absent vas deferens should be tested for cystic fibrosis gene mutations, as this condition is often associated with that abnormality.

What Treatment Options Are Available for Infertility?

Infertility treatments range from lifestyle modifications and medication to advanced procedures like IVF. Treatment choice depends on the underlying cause: ovulation disorders may respond to medication alone, while tubal damage typically requires IVF. Success rates vary by treatment type and individual factors, particularly age.

Treatment for infertility is highly individualized, based on the underlying cause, duration of infertility, partners' ages, and personal preferences. The general approach starts with simpler, less invasive treatments and progresses to more complex interventions if needed. However, some couples may proceed directly to IVF based on their diagnosis or circumstances.

A key principle in fertility treatment is avoiding unnecessary delays, particularly for women over 35. While it's reasonable to try simpler treatments first, the time spent on approaches with lower success rates must be weighed against the ongoing decline in fertility with age. Your fertility specialist can help you understand the most appropriate treatment path for your specific situation.

Lifestyle Modifications

Before or alongside medical treatment, lifestyle changes can improve fertility outcomes for both partners. While these modifications alone may not overcome significant fertility problems, they optimize the body's reproductive function and improve treatment success rates.

Weight management is crucial, as both obesity and being underweight can impair fertility. Women with a BMI over 30 may have irregular ovulation, while those with BMI under 18.5 may stop ovulating altogether. In men, obesity is associated with lower testosterone and decreased sperm quality. Even modest weight loss (5-10% of body weight) can restore ovulation in many overweight women with PCOS.

Smoking cessation benefits both partners. Smoking accelerates egg loss in women and damages sperm DNA in men. Women who smoke go through menopause on average 1-4 years earlier than non-smokers. Quitting smoking can improve sperm quality within 3 months, as that's approximately how long it takes for new sperm to develop.

Alcohol and caffeine moderation is recommended. Heavy alcohol use impairs fertility in both sexes. While moderate caffeine consumption (less than 200mg daily, about one cup of coffee) appears safe, some experts recommend limiting intake when trying to conceive.

Ovulation Induction

For women who don't ovulate regularly or at all, medications can stimulate the ovaries to produce eggs. This is often the first-line treatment for ovulatory disorders.

Clomiphene citrate (Clomid) is typically the first medication tried. It works by blocking estrogen receptors in the brain, causing increased release of FSH and LH, which stimulate follicle development. Treatment usually starts on days 3-5 of the menstrual cycle and continues for 5 days. About 80% of women with ovulatory disorders will ovulate on clomiphene, and about half will achieve pregnancy within 6 cycles.

Letrozole, originally a breast cancer medication, works by blocking estrogen production, similarly triggering increased FSH release. Studies show it may be more effective than clomiphene for women with PCOS, with higher ovulation and pregnancy rates and lower risk of multiple pregnancies.

Gonadotropins (FSH/LH injections) are more potent fertility medications that directly stimulate the ovaries. They're used when oral medications haven't worked or for IVF cycles. These require careful monitoring with blood tests and ultrasounds to prevent overstimulation and reduce the risk of multiple pregnancies.

Intrauterine Insemination (IUI)

IUI involves placing washed, concentrated sperm directly into the uterus around the time of ovulation. This bypasses the cervix and places sperm closer to the egg, increasing the chances of fertilization.

IUI is commonly used for mild male factor infertility, unexplained infertility, or when using donor sperm. It's typically combined with ovulation induction to ensure accurate timing. Success rates per cycle are approximately 10-20%, depending on the woman's age and the indication for treatment. Most couples try 3-6 IUI cycles before considering IVF.

In Vitro Fertilization (IVF)

IVF is the most effective fertility treatment and the only option for some conditions such as blocked fallopian tubes. The process involves stimulating the ovaries to produce multiple eggs, retrieving those eggs, fertilizing them with sperm in the laboratory, and transferring resulting embryos to the uterus.

A typical IVF cycle takes approximately 4-6 weeks from the start of ovarian stimulation to embryo transfer. The process involves daily hormone injections for 8-14 days to stimulate multiple follicles, regular monitoring with blood tests and ultrasounds, a trigger injection to finalize egg maturation, egg retrieval under sedation, fertilization in the laboratory (conventional IVF or ICSI), embryo culture for 3-6 days, and embryo transfer to the uterus.

ICSI (Intracytoplasmic Sperm Injection) is a technique used when there are significant sperm abnormalities. A single sperm is injected directly into each egg, bypassing the need for sperm to penetrate the egg naturally. ICSI is used in about 70% of IVF cycles worldwide and is essential for severe male factor infertility.

Frozen embryo transfer (FET) involves freezing excess embryos from a fresh IVF cycle for future use. Modern vitrification (flash-freezing) techniques have made FET success rates equal to or better than fresh transfers in many situations. FET is also used when the uterine environment isn't optimal during the stimulation cycle or when preimplantation genetic testing is performed.

How Does the IVF Process Work Step by Step?

The IVF process involves ovarian stimulation with daily injections for 8-14 days, egg retrieval under sedation, laboratory fertilization, embryo culture for 3-6 days, and embryo transfer to the uterus. A pregnancy test is performed 10-14 days after transfer. The entire cycle takes approximately 4-6 weeks.

Understanding the IVF process can help reduce anxiety and allow for better planning. While the process is more intensive than other fertility treatments, most patients find it manageable with proper preparation and support. Your fertility clinic will provide detailed instructions and be available to answer questions throughout the cycle.

Step 1: Ovarian Stimulation

The IVF cycle begins with ovarian stimulation, also called controlled ovarian hyperstimulation. Unlike natural cycles where only one egg develops, the goal is to retrieve multiple eggs to maximize the chances of success. Daily injections of FSH (with or without LH) are self-administered, typically in the evening. Most patients find the injections easier than expected once they learn the technique.

Monitoring during stimulation includes blood tests (usually every 2-3 days) to measure estradiol levels, and transvaginal ultrasounds to count and measure developing follicles. Based on these results, medication doses may be adjusted. Most women stimulate for 8-14 days before trigger. During this time, you may feel bloated and have enlarged ovaries – this is expected and temporary.

Step 2: Trigger Shot and Egg Retrieval

When follicles reach optimal size (typically 18-22mm), a trigger shot is given to finalize egg maturation. This is precisely timed, as egg retrieval must occur 34-36 hours later – before the eggs ovulate naturally. The timing is critical, so your clinic will give you specific instructions.

Egg retrieval is a minor surgical procedure performed under sedation. Using ultrasound guidance, a thin needle is passed through the vaginal wall to reach each ovary. Fluid is aspirated from each follicle, and embryologists immediately check for eggs. The procedure takes about 15-20 minutes. Most women experience mild cramping afterward and can return to normal activities the next day.

Step 3: Fertilization and Embryo Development

On retrieval day, sperm is prepared (either from the partner or a donor). For conventional IVF, eggs and sperm are placed together in a dish and allowed to fertilize naturally overnight. For ICSI, a single sperm is injected directly into each mature egg. Fertilization results are typically available the next morning.

Embryos are cultured in the laboratory for 3-6 days in carefully controlled conditions. Embryologists assess development daily, looking for normal cell division and development to the blastocyst stage (day 5-6). Not all fertilized eggs will develop into quality embryos – this is normal and expected.

Step 4: Embryo Transfer

Embryo transfer is a simple procedure that doesn't require sedation. Using a thin catheter guided by ultrasound, one or more embryos are placed in the uterus. The number of embryos transferred depends on age, embryo quality, and individual factors. Single embryo transfer is increasingly common, as it avoids the risks of twin pregnancy while maintaining good success rates.

After transfer, you can return to normal activities, though many clinics suggest avoiding strenuous exercise for a few days. The "two-week wait" until the pregnancy test can be emotionally challenging. Support from partners, friends, or counselors can be helpful during this time.

Step 5: Pregnancy Test and Follow-Up

Approximately 10-14 days after embryo transfer, a blood test measures beta-hCG (pregnancy hormone). If positive, levels are usually rechecked 48-72 hours later to confirm they're rising appropriately. An ultrasound at 6-7 weeks confirms pregnancy location and heartbeat.

What Are the Treatment Options for Male Infertility?

Male infertility treatment depends on the underlying cause. Options include lifestyle modifications, hormone therapy for hormonal imbalances, surgery for varicocele or blockages, and assisted reproduction techniques such as IUI with prepared sperm or IVF with ICSI for severe sperm abnormalities.

Male infertility is often underdiagnosed and undertreated. While historically less attention was paid to male factors, modern reproductive medicine offers effective treatments for many causes of male infertility. A reproductive urologist is a specialist who focuses on male fertility issues.

Lifestyle and Medical Treatments

Lifestyle modifications can significantly improve sperm parameters over 3 months (the time required for new sperm to develop). Key changes include quitting smoking, reducing alcohol consumption, achieving a healthy weight, avoiding excessive heat exposure, and reducing stress. Antioxidant supplements may help in some cases, though evidence is mixed.

Hormone therapy can be effective when infertility is caused by hormonal imbalances. Low testosterone can paradoxically be treated with medications that stimulate the body's own testosterone production (rather than testosterone replacement, which can worsen fertility). Conditions like hyperprolactinemia respond well to medication.

Varicocele repair is the most common surgically correctable cause of male infertility. Varicoceles are enlarged veins in the scrotum that raise testicular temperature. Surgery to repair varicocele can improve sperm parameters in about 60% of men and increase pregnancy rates.

Assisted Reproduction for Male Factor

When sperm abnormalities cannot be corrected, assisted reproduction techniques can help achieve pregnancy:

IUI with prepared sperm concentrates the healthiest sperm and places them directly in the uterus. This is effective for mild male factor infertility when there are at least 10 million total motile sperm after preparation.

IVF with ICSI is required for severe male factor infertility. Since only one sperm per egg is needed, even men with very low sperm counts can father children. ICSI success rates are similar to conventional IVF when sperm can be obtained.

Surgical sperm retrieval techniques (TESA, PESA, micro-TESE) can extract sperm directly from the testicles or epididymis for men with no sperm in the ejaculate. These sperm are then used with ICSI. Success depends on the underlying cause of absent sperm.

How Do You Cope with the Emotional Impact of Infertility?

Infertility causes significant emotional distress for many couples, including grief, anxiety, depression, and relationship strain. Coping strategies include open communication with partners, seeking support from counselors or support groups, setting boundaries around treatment, and practicing self-care throughout the journey.

The emotional impact of infertility is often described as comparable to dealing with a serious illness or death of a loved one. The cyclical nature of hope and disappointment, combined with the physical demands of treatment and financial stress, can take a significant toll on mental health and relationships.

Research shows that approximately 25-60% of people experiencing infertility have clinically significant symptoms of anxiety or depression. Despite this, many suffer in silence, feeling they should be able to "handle it" or not wanting to burden others. Recognizing that these feelings are normal and seeking support is not a sign of weakness but a healthy response to a difficult situation.

Coping Strategies

Communication with your partner is essential but often challenging. Partners may have different coping styles and timelines for grieving. Regular check-ins about feelings, treatment decisions, and limits can help maintain connection. Many couples find that scheduling specific times to discuss fertility issues helps prevent it from dominating every conversation.

Professional support can be invaluable. Many fertility clinics have counselors or psychologists on staff who specialize in reproductive issues. Individual therapy, couples counseling, or support groups (in-person or online) provide safe spaces to process emotions and learn coping skills. Medication for anxiety or depression may be appropriate for some people and is generally safe with fertility treatment.

Setting boundaries helps protect your mental health. This might mean limiting discussions about fertility at family gatherings, taking a break from social media when pregnant friends' posts are triggering, or deciding how much detail to share with others about your treatment. You have the right to protect your emotional wellbeing.

Self-care during fertility treatment is crucial but often neglected. Finding activities that bring joy and relaxation – whether exercise, hobbies, time in nature, or creative pursuits – helps maintain balance. While it's important not to use self-care as a way to avoid feelings, intentional moments of respite are healthy and necessary.

How Does Age Affect Fertility in Women and Men?

Female fertility declines significantly after age 35, with steep drops after 40, primarily due to decreasing egg quality and quantity. Male fertility also declines with age, but more gradually. Age is the single most important factor in fertility treatment success, making timely evaluation and treatment crucial.

Age is the most significant factor affecting fertility, particularly for women. Understanding the biological reality of age-related fertility decline can help couples make informed decisions about when to start a family and when to seek help.

Female Age and Fertility

Women are born with all the eggs they will ever have – approximately 1-2 million at birth, declining to about 300,000 by puberty. Of these, only about 400-500 will ovulate during reproductive years. Both the quantity and quality of eggs decline with age, accelerating in the mid-to-late 30s.

In the 20s: This is peak fertility. Approximately 25-30% chance of conception per cycle. Miscarriage rate is about 10-15%.

Ages 30-34: Fertility remains good but begins to decline. Monthly conception rate drops to about 20-25%. Miscarriage rate increases slightly.

Ages 35-39: Fertility decline becomes more noticeable. Monthly conception rate is approximately 15-20% at 35, dropping to about 10% by 39. Miscarriage rate increases to 20-30%. Chromosomal abnormalities become more common.

Ages 40+: Significant fertility decline. Monthly conception rate is less than 5% after 40. Miscarriage rate is 40% or higher. The chance of chromosomal abnormalities (like Down syndrome) increases substantially.

Male Age and Fertility

Male fertility decline is more gradual than female decline, but it does occur. After age 40, men may experience decreased sperm volume, motility, and increased DNA fragmentation. Time to conception increases, and there's a modest increase in miscarriage risk with paternal age. Children of older fathers have slightly higher risks of certain conditions including autism and schizophrenia, though the absolute risks remain low.

Fertility Preservation Options

For those not ready to conceive but concerned about age-related decline, fertility preservation offers options:

Egg freezing (oocyte cryopreservation) allows women to freeze eggs at a younger age for future use. Success rates are best when eggs are frozen before age 35. The process is similar to the stimulation phase of IVF.

Embryo freezing is an option for those with a partner. Fertilized embryos are frozen for future transfer.

Sperm freezing is simpler than egg freezing and can be done before medical treatments (like chemotherapy) that might affect fertility, or simply to preserve younger sperm.