Differential Diagnosis for Infertility in a Woman

Single Most Likely Diagnosis

• Unexplained infertility: This is the most common diagnosis, accounting for approximately 20-30% of infertility cases. It is often attributed to a combination of minor factors, such as irregular ovulation, mild endometriosis, or low sperm count in the partner, that do not meet the criteria for a specific infertility diagnosis.

Other Likely Diagnoses

• Polycystic ovary syndrome (PCOS): A hormonal disorder that can cause irregular ovulation, making it difficult to conceive. It is a common cause of infertility in women.
• Endometriosis: A condition where tissue similar to the lining of the uterus grows outside the uterus, leading to inflammation, scarring, and adhesions that can affect ovulation and fertilization.
• Tubal damage or blockage: Damage to the fallopian tubes, often due to pelvic inflammatory disease, can prevent the egg from being fertilized or reaching the uterus.
• Ovulation disorders: Conditions such as hypothalamic amenorrhea, premature ovarian failure, or hyperprolactinemia can disrupt ovulation, making it challenging to conceive.

Do Not Miss Diagnoses

• Early menopause (premature ovarian failure): A condition where the ovaries stop functioning before the age of 40, leading to infertility.
• Uterine or cervical abnormalities: Conditions such as a septate uterus, unicornuate uterus, or cervical stenosis can increase the risk of miscarriage or make it difficult to conceive.
• Infections or sexually transmitted diseases (STDs): Untreated infections like chlamydia or gonorrhea can cause pelvic inflammatory disease, leading to infertility.
• Thyroid disorders: Both hypothyroidism and hyperthyroidism can affect ovulation and fertility.

Rare Diagnoses

• Congenital adrenal hyperplasia: A genetic disorder that can affect hormone production and ovulation.
• Asherman's syndrome: A rare condition where scar tissue forms in the uterus, often due to uterine surgery or infection, which can lead to infertility.
• Genetic disorders: Conditions such as fragile X syndrome or Turner syndrome can affect fertility in women.
• Autoimmune disorders: Certain autoimmune conditions, such as antiphospholipid syndrome or lupus, can increase the risk of miscarriage or infertility.