Infertility

Infertility is a disease of the male or female reproductive system, defined as the failure to achieve a pregnancy after 12 months or more of regular unprotected sexual intercourse. For women aged 35 years and older, this timeframe is often shortened to 6 months before investigation and treatment are considered. It can also be referred to as subfertility or impaired fecundity. Infertility is a complex condition that can affect either partner or both. Male and female factors contribute roughly equally to cases of infertility. Understanding the 'fertile window' – the specific days in a woman's menstrual cycle when pregnancy is possible – is key to both understanding and managing infertility.

Symptoms

Inability to get pregnant after one year of regular, unprotected intercourse (or six months for women over 35)
Irregular, absent, or painful menstrual cycles (in women)
Pelvic pain or painful intercourse (dyspareunia) (in women)
Excess hair growth (hirsutism), acne, or hair loss (suggesting androgen excess, such as in PCOS) (in women)
Milky nipple discharge (galactorrhea) (in women)
Problems with sexual function, such as difficulty with ejaculation or reduced sexual desire (in men)
Pain, swelling, or a lump in the testicle area (in men)
Recurrent respiratory infections (potentially linked to immotile cilia syndrome) (in men)
Abnormal breast growth (gynecomastia) (in men)
Severe, sudden pelvic pain (could indicate ovarian torsion, ectopic pregnancy, or ruptured ovarian cyst, requiring urgent medical attention)
Severe abdominal bloating, nausea, vomiting, and rapid weight gain during fertility treatment (symptoms of Ovarian Hyperstimulation Syndrome - OHSS, requiring urgent medical attention)

Causes & Risk Factors

Ovulatory disorders (e.g., Polycystic Ovary Syndrome (PCOS), hypothalamic dysfunction, premature ovarian insufficiency, hyperprolactinemia)
Tubal factor (blocked or damaged fallopian tubes, often due to pelvic inflammatory disease, previous surgery, or endometriosis)
Uterine or cervical factors (e.g., uterine anomalies, fibroids, polyps, adhesions (Asherman's syndrome), or cervical stenosis)
Endometriosis (presence of endometrial tissue outside the uterus)
Disorders of sperm production or function (e.g., no sperm (azoospermia), low sperm count (oligozoospermia), poor motility (asthenozoospermia), abnormal shape (teratozoospermia), often due to genetic, hormonal issues, or varicocele)
Disorders of sperm transport (obstruction of the reproductive tract due to infection, surgery, or congenital absence of the vas deferens)
Erectile or ejaculatory dysfunction
Combined factor infertility (both male and female factors are identified)
Unexplained infertility (when standard fertility investigations for both partners are normal, but pregnancy has not occurred)
Advancing maternal age (over 35 years)
History of pelvic inflammatory disease (PID)
Endometriosis
Polycystic Ovary Syndrome (PCOS)
Uterine fibroids or other uterine abnormalities
Premature ovarian insufficiency (POI)
Genetic conditions (e.g., Turner syndrome)
Previous ectopic pregnancy
Smoking (female and male)
Excessive alcohol consumption (female and male)
Obesity (BMI > 30) or being significantly underweight (BMI < 19) (female)
Excessive physical or emotional stress (female)
Sexually transmitted infections (STIs) leading to tubal damage (female)
Certain medications (e.g., chemotherapy) (female and male)
Genetic disorders (e.g., Klinefelter syndrome, Y-chromosome microdeletions) (male)
History of cryptorchidism (undescended testes) (male)
History of testicular torsion or trauma (male)
Varicocele (male)
Obesity (male)
Use of anabolic steroids or illicit drugs (e.g., marijuana, cocaine) (male)
Exposure to environmental toxins (pesticides, lead) or excessive heat (e.g., saunas, hot tubs) (male)
Certain medications (e.g., some antihypertensives) (male)
High caffeine intake (evidence is inconsistent)
Dietary factors (evidence is evolving)
Exposure to endocrine-disrupting chemicals
Maintaining a healthy body weight (BMI 19-25) (protective factor)
Regular, moderate exercise (protective factor)
Balanced diet (protective factor)
Avoiding smoking, excessive alcohol, and illicit drugs (protective factor)
Practicing safe sex to prevent STIs (protective factor)

Diagnosis

Detailed medical, surgical, sexual, and lifestyle history for both partners, including menstrual history for women and any previous pregnancies or miscarriages
General physical examination for both partners, including BMI, and specific examinations to check for signs of underlying conditions (e.g., pelvic exam for women, genital exam for men)
Mid-luteal phase serum progesterone to assess ovulation (for women)
Ovarian reserve testing (e.g., early follicular phase FSH, LH, estradiol; Anti-Müllerian Hormone (AMH); Antral Follicle Count (AFC) via ultrasound) (for women)
Thyroid Stimulating Hormone (TSH) and Prolactin levels (for women)
Androgen levels if Polycystic Ovary Syndrome (PCOS) is suspected (for women)
Semen analysis (measures volume, concentration, motility, and morphology; often requires 2-3 samples collected several weeks apart for confirmation of abnormality) (for men)
Hormone testing (FSH, LH, testosterone) if semen analysis is abnormal (for men)
Transvaginal ultrasound to assess uterine anatomy (fibroids, polyps), endometrium, and ovaries (PCOS, AFC) (for women)
Hysterosalpingogram (HSG) or Hysterosalpingo-contrast-sonography (HyCoSy) to evaluate the uterine cavity and fallopian tube patency (for women)
Laparoscopy with dye test (a surgical procedure considered the gold standard for assessing tubal patency and diagnosing endometriosis or pelvic adhesions) (for women)
Diagnosis is based on the failure to conceive within the defined timeframe (6-12 months depending on age) combined with findings from the comprehensive workup of both partners

Treatment Options

Achieving and maintaining a healthy weight (BMI 19-25)
Stopping smoking
Reducing alcohol consumption (NICE recommends no more than 1-2 units once or twice per week for women; men should adhere to general national guidelines)
Timing intercourse during the fertile window
Ovulation induction medications (e.g., Clomiphene Citrate, Letrozole, Gonadotropins)
Intrauterine Insemination (IUI)
Assisted Reproductive Technology (ART) such as In Vitro Fertilization (IVF)
Intracytoplasmic Sperm Injection (ICSI) (primarily for severe male factor infertility)
Third-party reproduction (e.g., use of donor eggs, donor sperm, or gestational carriers)
Laparoscopy to treat endometriosis, lyse adhesions, or remove fibroids (myomectomy) (for women)
Hysteroscopy to remove uterine polyps, submucosal fibroids, or a uterine septum (for women)
Tubal surgery to repair or unblock fallopian tubes (e.g., tubal cannulation, fimbrioplasty) (for women)
Varicocelectomy (surgical repair of a varicocele) (for men)
Sperm retrieval techniques for obstructive azoospermia (e.g., MESA, PESA) or non-obstructive azoospermia (e.g., TESE, microTESE) (for men)
Watchful waiting (may be appropriate for couples with unexplained infertility, particularly if the woman is young (<30-32) and the duration of infertility is short (<2 years))
Referral to a specialist if pregnancy is not achieved after 12 months (or 6 months if female age >35)
Referral for known causes of infertility (e.g., amenorrhea, severe male factor, bilateral tubal blockage)
Referral for advanced treatments like IUI or IVF

Frequently Asked Questions

When should we see a doctor about not getting pregnant?

You should see a doctor if you have not achieved a pregnancy after 12 months or more of regular, unprotected sexual intercourse. If the woman is aged 35 years or older, or if there is a known clinical cause or history of predisposing factors for infertility, you may be advised to seek help earlier, typically after 6 months.

What are the first tests we will need to do?

Initial tests typically involve a comprehensive history and physical examination for both partners. For women, this includes assessing ovulation (e.g., mid-luteal progesterone), ovarian reserve (e.g., AMH), and checking the uterus and fallopian tubes (e.g., transvaginal ultrasound, HSG or HyCoSy). For men, a semen analysis is the cornerstone of investigation.

Is infertility a male or female problem?

Infertility can be due to factors affecting the female partner, the male partner, or both. The contribution of male and female factors is roughly equal, with about 30-40% of cases attributed to female factors, 30-40% to male factors, and 10-20% to combined factors. In some cases, no specific cause is found, which is called unexplained infertility.

How does my age affect my chances of getting pregnant?

Advancing maternal age, particularly over 35 years, is a significant non-modifiable risk factor for female infertility. The chance of spontaneous conception decreases with age, and live birth rates per IVF cycle also decline significantly with increasing female age.

What lifestyle changes can we make to improve our fertility?

Maintaining a healthy body weight (BMI 19-25), regular moderate exercise, and a balanced diet are beneficial. It is important to stop smoking, reduce excessive alcohol consumption, and avoid illicit drugs. Practicing safe sex to prevent sexually transmitted infections (STIs) is also a protective factor.

Does stress cause infertility?

Excessive physical or emotional stress is listed as a modifiable risk factor for female infertility. While stress itself may not be a direct cause, managing stress can be part of a holistic approach to improving fertility.

What is a semen analysis and what does it show?

A semen analysis is the primary investigation for male infertility. It measures various characteristics of sperm, including volume, concentration (sperm count), motility (how well sperm move), and morphology (sperm shape). Abnormal results may require repeat testing and further investigation.

What is PCOS and how does it affect fertility?

Polycystic Ovary Syndrome (PCOS) is a common cause of female infertility, primarily due to ovulatory disorders, meaning irregular or absent ovulation. It can also be associated with symptoms like excess hair growth, acne, and obesity.

What is endometriosis and how does it cause infertility?

Endometriosis is a condition where tissue similar to the lining of the uterus grows outside the uterus. It can cause infertility by affecting the fallopian tubes, ovaries, or uterus, leading to inflammation, adhesions, or structural changes that hinder conception.

What are my options if my fallopian tubes are blocked?

If your fallopian tubes are blocked, treatment options may include surgical procedures like tubal cannulation or fimbrioplasty to repair or unblock them. However, In Vitro Fertilization (IVF) is often recommended as a primary treatment for tubal factor infertility.

What is the difference between IUI and IVF?

Intrauterine Insemination (IUI) involves preparing sperm and placing it directly into the uterus around the time of ovulation. In Vitro Fertilization (IVF) is a more complex procedure where eggs are retrieved from the ovaries, fertilized with sperm in a laboratory, and then the resulting embryo(s) are transferred into the uterus.

What are the success rates for IVF?

Success rates for IVF vary significantly, primarily depending on the woman's age. For women using their own eggs, the percentage of ART cycles resulting in a live birth was approximately 45% for those under 35 years, decreasing to about 7% for women over 40 years (based on 2021 US data).

Are fertility treatments painful?

Fertility treatments can involve various procedures. Some, like blood tests and injections for ovulation induction, may cause mild discomfort. Procedures like egg retrieval for IVF are performed under sedation, and surgical interventions involve anesthesia. Your healthcare provider can discuss pain management options.

What are the side effects of fertility drugs like Clomid/Letrozole?

Common side effects of ovulation induction medications like Clomiphene Citrate (Clomid) and Letrozole can include hot flashes, mood swings, headaches, and visual disturbances. Your doctor will discuss potential side effects and monitor you closely during treatment.

What is Ovarian Hyperstimulation Syndrome (OHSS)?

Ovarian Hyperstimulation Syndrome (OHSS) is a potentially severe complication of ovarian stimulation, particularly with injectable gonadotropins. Symptoms can include severe abdominal bloating, nausea, vomiting, and rapid weight gain. It requires close medical monitoring.

What is the risk of having twins or triplets with fertility treatment?

Fertility treatments, especially those involving ovarian stimulation and embryo transfer (like IVF), can increase the risk of multiple pregnancies (twins, triplets, or higher-order multiples). Multiple pregnancies carry increased risks for both the mother and the babies.

How much do fertility treatments cost and does insurance cover them?

The provided information does not include details on the cost of fertility treatments or insurance coverage. This is best discussed directly with your healthcare provider and insurance company.

What is unexplained infertility?

Unexplained infertility is a diagnosis given when standard fertility investigations for both partners, including semen analysis, ovulation assessment, and evaluation of the uterus and fallopian tubes, are all found to be normal, yet pregnancy has not occurred.

If we have one child, can we still have secondary infertility?

Yes, secondary infertility is the inability to conceive after having had a previous pregnancy, regardless of the outcome of that pregnancy. It is distinct from primary infertility, which is never having conceived.

What are the options if we have severe male factor infertility?

For severe male factor infertility, options often include Intracytoplasmic Sperm Injection (ICSI), where a single sperm is injected directly into an egg during IVF. Sperm retrieval techniques may also be used if sperm are not present in the ejaculate. In some cases, donor sperm may be considered.

Should I consider freezing my eggs?

Fertility preservation options, such as egg cryopreservation (freezing eggs), should be discussed if you are facing gonadotoxic treatments like chemotherapy, which can harm your future fertility. It can also be considered for elective reasons, though the dossier does not elaborate on this.

What is involved in using an egg or sperm donor?

Using an egg or sperm donor falls under third-party reproduction. This involves using eggs from a donor woman or sperm from a donor man to achieve a pregnancy, typically through IVF or IUI, respectively. This option is considered when one partner's gametes are not viable or available.

What are the emotional and psychological challenges of dealing with infertility?

Infertility can have a significant psychological impact, leading to stress, anxiety, depression, and marital distress. Support and counseling are often important components of managing infertility.

Are there any alternative or complementary therapies that can help with fertility?

The provided information does not include specific details on alternative or complementary therapies for infertility. It focuses on established medical and surgical treatments and lifestyle modifications.

What is the chance of a baby having a birth defect after IVF?

Infants born from Assisted Reproductive Technology (ART) pregnancies may have a slightly higher risk of certain birth defects compared to naturally conceived pregnancies, though the absolute risk remains low. It is not fully clear if this is due to the ART procedures themselves or the underlying infertility of the parents.