Differential Diagnosis for Infertility and Chronic Lower Abdominal Discomfort
Single Most Likely Diagnosis
- Uterine Fibroids: The patient's symptoms of severe cramping on the first day of menses, an enlarged and irregularly shaped uterus with a prominent posterior mass on pelvic examination, and chronic lower abdominal discomfort are highly suggestive of uterine fibroids. These benign tumors are common in women of reproductive age and can cause infertility, pelvic pain, and heavy menstrual bleeding.
Other Likely Diagnoses
- Endometriosis: Given the patient's history of chronic lower abdominal discomfort, constipation, and severe cramping during menses, endometriosis is a plausible diagnosis. Endometriosis can cause infertility, pelvic pain, and bowel symptoms due to the presence of endometrial tissue outside the uterus.
- Polycystic Ovary Syndrome (PCOS): Although the patient has regular menses, PCOS can still be considered due to the presence of infertility and potential for ovulatory dysfunction. However, the absence of other typical PCOS symptoms such as hirsutism, acne, or obesity makes this diagnosis less likely.
- Adenomyosis: This condition, characterized by the growth of endometrial tissue into the uterine wall, can cause similar symptoms to fibroids, including pelvic pain and heavy bleeding. However, the presence of a distinct posterior mass on examination makes fibroids more likely.
Do Not Miss Diagnoses
- Ovarian Cancer: Although the patient's mother had ovarian cancer at age 56, which is not extremely young, it's essential to consider this diagnosis due to the family history. Ovarian cancer can present with non-specific symptoms such as abdominal discomfort and constipation, and it's crucial to rule out this potentially life-threatening condition.
- Ectopic Pregnancy: Despite the negative urine pregnancy test, ectopic pregnancy must be considered in any woman of childbearing age presenting with abdominal pain and infertility. This diagnosis is critical to rule out due to its high mortality rate if left untreated.
Rare Diagnoses
- Uterine Malformations: Congenital uterine anomalies, such as a septate or bicornuate uterus, can cause infertility and recurrent miscarriages. Although these conditions are rare, they should be considered in the differential diagnosis, especially if imaging studies are inconclusive or if the patient's symptoms persist despite treatment for more common conditions.
- Lymphoma or Other Pelvic Tumors: Although extremely rare, lymphoma or other pelvic tumors can present with similar symptoms to fibroids or endometriosis. These diagnoses are unlikely but should be considered if the patient's symptoms worsen or if imaging studies reveal unusual findings.