Female infertility is a complex medical condition with biological, hormonal, anatomical, genetic, and environmental determinants. It affects reproductive potential and has significant emotional and psychosocial consequences. A structured medical approach allows identification of the underlying cause in most cases and guides effective treatment.

What Is Female Infertility?

Female infertility is defined as the inability to achieve pregnancy after at least 12 months of regular, unprotected sexual intercourse. In women aged 35 years or older, this interval is reduced to 6 months due to the physiological decline in ovarian reserve and oocyte quality associated with age.

Infertility may be primary, when pregnancy has never occurred, or secondary, when conception has been achieved previously but is no longer possible.

Causes of Female Infertility

Female infertility is most often multifactorial. The main etiological categories include ovulatory dysfunction, tubal pathology, uterine abnormalities, cervical factors, systemic disease, and lifestyle or environmental exposures.

Ovulatory disorders

Disruption of normal ovulation is one of the most frequent causes and may result from:

• Polycystic ovary syndrome

• Hyperprolactinemia

• Thyroid dysfunction, both hyperthyroidism and hypothyroidism

• Obesity and metabolic disturbances

• Pituitary or adrenal disorders

• Premature ovarian insufficiency or early menopause

Ovarian pathology

Structural or functional ovarian conditions may impair fertility, including:

• Benign or malignant ovarian tumors

• Congenital ovarian malformations

• Reduced ovarian reserve

Genetic causes

Certain chromosomal and genetic conditions interfere with normal ovarian development and function, such as Turner syndrome or fragile X–associated ovarian insufficiency.

Tubal factors

Damage or obstruction of the fallopian tubes prevents fertilization and is commonly caused by:

• Sexually transmitted infections, particularly Chlamydia trachomatis and Mycoplasma

• Pelvic inflammatory disease

• Post-surgical or post-inflammatory intra-abdominal adhesions

• Congenital anomalies of the tubes

Uterine pathology

Abnormalities of the uterine cavity can impair implantation or pregnancy maintenance and include:

• Endometriosis and adenomyosis

• Uterine fibroids and endometrial polyps

• Chronic endometritis

• Congenital uterine malformations such as septate, bicornuate, unicornuate, didelphic, or hypoplastic uterus

Cervical factors

Cervical malformations, chronic cervicitis, or altered cervical mucus may interfere with sperm transport.

Immune and systemic conditions

Autoimmune mechanisms can contribute to infertility through antisperm antibodies or antiphospholipid syndrome.

Lifestyle and environmental factors

Smoking, chronic alcohol use, illicit drug consumption, and exposure to toxic substances such as lead or ionizing radiation negatively affect fertility. Pelvic chemotherapy and radiotherapy may cause irreversible ovarian damage.

Symptoms of Infertility in Women

The defining clinical feature is the inability to conceive. Additional symptoms may suggest the underlying cause and include irregular or absent menstruation, chronic pelvic or lower abdominal pain, abnormal vaginal discharge, or a history of spontaneous pregnancy loss. In many cases, infertility may be asymptomatic until investigations are performed.

Diagnosis of Infertility in Women

Diagnosis begins with a detailed medical history and complete gynecological examination. Evaluation is typically multidisciplinary and includes laboratory, imaging, and sometimes genetic investigations.

Laboratory assessment focuses on hormonal profiling, including estrogen, progesterone, follicle-stimulating hormone, luteinizing hormone, prolactin, and thyroid hormones. Autoimmune markers, tumor markers, and tests for antisperm or antiphospholipid antibodies may be indicated. Microbiological testing of vaginal and cervical secretions identifies infectious causes, while molecular testing may be used for HPV detection or genetic evaluation in selected cases.

Imaging studies are essential for anatomical assessment and include transvaginal and abdominal ultrasound, hysterosalpingography or contrast sonohysterosalpingography to evaluate tubal patency, and, when necessary, cross-sectional imaging for complex pathology.

Treatment of Female Infertility

Management is etiological and individualized, targeting the specific cause whenever possible.

Hormonal therapies are used to induce or regulate ovulation in women with ovulatory disorders. Antibiotic treatment is indicated for active genital tract infections. Surgical interventions may correct endometriosis, remove fibroids or polyps, treat tubal obstruction, or address congenital uterine anomalies. In selected cases, ovarian drilling may be used to restore ovulation.

When natural conception remains unlikely, assisted reproductive techniques are considered. These include intrauterine insemination and in vitro fertilization, which involves ovarian stimulation, oocyte retrieval, laboratory fertilization, and embryo transfer into the uterine cavity.

Scientific references

1. Practice Committee of the American Society for Reproductive Medicine. Diagnostic evaluation of infertility in women. Fertility and Sterility. 2021;116(6):1255–1265.

2. Carson SA, Kallen AN. Diagnosis and management of infertility: A review. JAMA. 2021;326(1):65–76.

3. Fritz MA, Speroff L. Clinical Gynecologic Endocrinology and Infertility. 9th ed. Wolters Kluwer; 2020.

4. Fauser BCJM, et al. Assisted reproductive technology. The Lancet. 2019;393(10174):118–130.

5. Vander Borght M, Wyns C. Fertility and infertility: Definition and epidemiology. Clinical Biochemistry. 2018;62:2–10.