Signs of Infertility in Men and Women: Symptoms, Diagnosis, and Treatment

Infertility is a recognized global health issue that can cause significant emotional and psychological distress for individuals and couples. Medically, infertility is defined as the inability to conceive after 12 months of regular, unprotected sexual intercourse. For women aged 35 years or older, this diagnostic timeline is typically shortened to six months.

Infertility is a common concern, affecting approximately 12% of women of reproductive age (20–44 years) in the United States. Globally, this condition impacts an estimated 1 in 6 people.. While the causes are often perceived as primarily female, the male factor contributes to approximately 50% of all infertility cases, whether as the sole cause or as a contributing factor. Because the condition is often multifactorial, a comprehensive evaluation of both partners is essential for proper diagnosis and effective treatment.

When to Seek Medical Evaluation

Recognizing the appropriate time to consult a specialist is a crucial first step in the diagnostic journey. The general guidelines from organizations like the American Society for Reproductive Medicine (ASRM) focus heavily on a woman’s age, which is a primary determinant of ovarian reserve (egg quantity and quality).

Group	Guideline (Time of Unprotected Intercourse)	Urgency
Women under 35	12 months	Standard recommendation
Women 35 or older	6 months	Expedited evaluation due to faster decline in egg quality/quantity
Women over 40	Immediate evaluation	May warrant immediate testing and treatment

 

Furthermore, evaluation and treatment may be warranted immediately, regardless of the duration of attempts, if either partner has a known history of conditions that predispose to infertility. These conditions include irregular menstrual cycles, oligomenorrhea (infrequent periods), amenorrhea (absence of periods), known uterine or tubal disease (such as endometriosis or pelvic inflammatory disease), or known male subfertility.

Signs of Infertility in Women

Female infertility is primarily related to disorders of ovulation, damage to the fallopian tubes or uterus, or factors related to age and egg quality. While the inability to conceive is the primary sign, several other symptoms and conditions can signal an underlying issue.

Menstrual Cycle Irregularities

The most common signs of potential female infertility involve abnormalities in the menstrual cycle, which often indicate problems with ovulation (anovulation or oligo-ovulation) [6, 10].

• Irregular Periods (Oligomenorrhea): A menstrual cycle that is consistently shorter than 21 days or longer than 35 days, or one that varies greatly in length, can signal an ovulation disorder.
• Absent Periods (Amenorrhea): The complete absence of menstruation is a strong indicator of an ovulation problem. This may be caused by Primary Ovarian Insufficiency (POI), severe weight fluctuations, or endocrine disorders.
• Painful or Heavy Periods: While common, very painful periods (dysmenorrhea) or excessive bleeding can be symptoms of conditions like endometriosis (where tissue similar to the uterine lining grows outside the uterus) or uterine fibroids (benign tumors in the uterine wall). Both conditions can affect the function of the ovaries (causing ovary pain), fallopian tubes, and uterus, interfering with conception and implantation.

Overall, these menstrual irregularities and symptoms point to underlying ovulation or structural reproductive issues that can interfere with conception and healthy implantation.

Hormonal and Physical Symptoms

Imbalances in reproductive hormones, such as estrogen, progesterone, and androgens, can manifest in noticeable physical changes.

• Polycystic Ovary Syndrome (PCOS): PCOS is the single most common cause of female infertility due to anovulation. It is a complex endocrine disorder that results in an imbalance of reproductive hormones.
• Hirsutism: Excess, coarse hair growth in a male pattern (face, chest, back) is a key symptom caused by high levels of male hormones (androgens).
• Acne: Persistent, severe acne, especially in adulthood, is also linked to hyperandrogenism.
• Thinning Hair/Male-Pattern Baldness: Conversely, high androgen levels can lead to hair thinning or loss on the scalp.
• Weight Gain: Obesity and insulin resistance frequently accompany PCOS, further complicating hormonal balance and fertility.

Together, these symptoms reflect the hormonal imbalance characteristic of PCOS, which can disrupt normal ovulation and contribute to fertility challenges.

Age-Related Decline in Fertility

Unlike men, women are born with a finite number of eggs. The decline in both the quantity and quality of these oocytes (eggs) is the single most important factor affecting female fertility over time.

• Quantitative Decline: A baby girl is born with about one million eggs, which declines to around 300,000-500,000by puberty. This loss, called atresia, is continuous and not dependent on lifestyle or contraceptive use.
• Quality Decline: While a slow decline in fertility begins around age 30, the rate of decline accelerates significantly in the mid-30s, particularly after age 35. This decline is due to a rise in aneuploidy (eggs with the wrong number of chromosomes), which increases the risk of both infertility and miscarriage. For women in their early to mid-30s, the risk of miscarriage is about 20% by 35; this increases to 33-50% for women aged 40–44.

Overall, these points show that female fertility naturally declines with age due to the gradual loss of eggs and reduced egg quality, leading to higher risks of infertility and miscarriage over time.

Signs of Infertility in Men

Male infertility is most frequently caused by issues with sperm production or function, but it can also stem from blockages preventing sperm transport. Identifying male factors is critical, as they are either the sole cause or a contributing cause in half of all infertility cases.

Physical and Anatomical Signs

Physical signs often point toward underlying hormonal or structural problems that affect spermatogenesis (sperm production).

• Changes in Sexual Function:
  • Ejaculatory Dysfunction: The inability to ejaculate, premature ejaculation, or retrograde ejaculation (semen traveling backward into the bladder) can prevent sperm from reaching the cervix.
  • Erectile Dysfunction: The consistent inability to achieve or maintain an erection sufficient for intercourse.
  • Low Sex Drive (Libido): A decreased interest in sexual activity can be a sign of low testosterone, which is essential for sperm production.
• Testicular Abnormalities:
  • Small, Firm Testicles: Testicles that are noticeably smaller and firmer than average can indicate primary testicular failure, which affects the 30-40% of male infertility cases .
  • Varicocele: This is an enlargement of the veins within the loose bag of skin (scrotum) that holds the testicles. A varicocele is generally described as a bag-of-worms feeling above the testicle and may result in retrograde blood flow that increases testicular temperature, negatively impacting sperm quality and function.
• Hormonal Imbalance Symptoms:Hormonal issues are less common but significant (2% to 5% of cases).
  • Gynecomastia: Abnormal enlargement of male breast tissue can be caused by hormonal imbalances, such as high estrogen or low testosterone.
  • Changes in Hair Growth: Decreased facial and body hair or male-pattern baldness can signal insufficient androgen (testosterone) levels.

Overall, these signs highlight how sexual function issues, testicular abnormalities, and hormonal imbalances can all signal underlying male reproductive problems that may contribute to infertility.

Genetic and Congenital Conditions

Certain genetic conditions are strongly linked to male factor infertility, often causing azoospermia (the complete absence of sperm in semen).

• Klinefelter Syndrome (47,XXY): This is a common genetic condition where a male is born with an extra copy of the X sex chromosome (XXY instead of XY).
  • Symptoms: This condition often leads to small, firm testicles, less body and facial hair, and low testosterone.
  • Infertility: Most men with Klinefelter syndrome produce little or no sperm (azoospermia), which is the most common chromosomal abnormality. However, assisted reproductive procedures, such as testicular sperm extraction (TESE) followed by Intracytoplasmic Sperm Injection (ICSI), may allow some to have biological children.
• Cystic Fibrosis (CF) Mutations: Mutations in the CFTR gene are associated with Congenital Bilateral Absence of the Vas Deferens (CBAVD). CBAVD causes a blockage in the sperm transport system, resulting in the absence of sperm in the ejaculate, though sperm production in the testes is normal.

Together, these conditions show how genetic abnormalities can impair hormone levels or block sperm transport, leading to infertility but sometimes still allowing biological parenthood through assisted reproductive techniques.

Diagnosis and Treatment Pathways

A fertility evaluation is a systematic process designed to determine the cause of infertility and map out the most effective treatment plan.

Diagnostic Testing

The initial workup for both partners often involves mostly non-invasive testing:

1. Male

• Semen Analysis (SA): Evaluates sperm count, motility (movement), and morphology (shape).
• Hormone Testing: Measures testosterone, FSH, and LH to identify endocrine issues.

2. Female

• Ovulation/Hormone Testing: Blood tests (e.g., FSH, LH, Estradiol, AMH, Progesterone) to confirm ovulation and assess ovarian reserve.
• Transvaginal Ultrasound: Visualizes the uterus and ovaries to detect cysts (PCOS), fibroids, polyps, or signs of endometriosis.
• Hysterosalpingogram (HSG): An X-ray procedure where dye is injected through the cervix to check for blockages or abnormalities in the fallopian tubes and uterine cavity.

Treatment Options

Treatment is tailored to the specific diagnosis, which may fall into one of several categories: primary testicular defects, sperm transport disorders, ovulation disorders, or tubal factors.

1. Ovulation Induction (OI): For women with ovulation disorders like PCOS, medication (such as clomiphene citrate or letrozole) can stimulate the ovaries to produce and release one or more eggs.

2. Intrauterine Insemination (IUI): Often used for mild male factor infertility or unexplained infertility. Washed, concentrated sperm is placed directly into the woman’s uterus around the time of ovulation.

3. Assisted Reproductive Technology (ART): This includes all fertility treatments in which eggs and sperm are handled outside of the body.

• In Vitro Fertilization (IVF): Eggs are retrieved from the woman and fertilized with sperm in a laboratory dish. The resulting embryo is then transferred into the woman’s uterus.
• Intracytoplasmic Sperm Injection (ICSI): A specialized form of IVF where a single sperm is injected directly into an egg. This technique is often used for severe male factor infertility, including cases of non-obstructive azoospermia (like Klinefelter syndrome), where sperm must be surgically retrieved.

4. Surgical Intervention: For conditions like varicocele in men or tubal blockages, fibroids, or endometriosis in women, surgical procedures may be performed to restore anatomy or improve function.

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Frequently Asked Questions

What are the main causes of infertility in men?

A large number of cases in male infertility is due to primary testicular defects, which account for 30-40% of cases. These defects involve issues with sperm production, often resulting in low sperm count (oligospermia), poor motility (asthenozoospermia), or abnormal shape (teratozoospermia). Other causes include sperm transport disorders (around15%) and endocrine issues (2% to 5%).

Can lifestyle factors affect fertility?

Yes, several lifestyle factors are known to negatively impact fertility in both men and women. For men, habits like smoking, excessive alcohol consumption, obesity, and exposure to environmental toxins can adversely affect sperm count, morphology, and DNA integrity. For women, maintaining a healthy weight, avoiding smoking, and limiting excessive alcohol are important steps, as these factors can influence ovulation and overall reproductive health.

What is Primary Ovarian Insufficiency (POI)?

Primary Ovarian Insufficiency (POI), also known as premature ovarian failure, occurs when the ovaries stop functioning normally, and menstrual periods end before the age of 40. The condition is often associated with diminished ovarian reserve and may be linked to genetic conditions (like Turner syndrome) or immune system diseases. Women with POI should seek immediate evaluation upon trying to conceive.

References

U.S. Infertility Prevalence, Access to Treatment, and Successful Live Birth

Global, regional, and national burden and trends of reproductive-aged male and female infertility from 1990–2021

1 in 6 People Globally Impacted by Infertility: WHO

Male Infertility

Klinefelter syndrome – Symptoms and causes

Sperm Retrieval Surgery Can Be Delayed into Adulthood for Patients With Nonmosaic Klinefelter Syndrome, Study Finds

PCOS (Polycystic Ovary Syndrome): Symptoms & Treatment

Polycystic Ovary Syndrome (PCOS)

Women are often told their fertility ‘falls off a cliff’ at 35, but is that right?

Fertility evaluation of infertile women: a committee opinion (2021)

Infertility – Symptoms and causes