A 34-year-old woman comes to the office for an infertility evaluation. She stopped taking her oral contraceptives a year ago and has not conceived despite unprotected intercourse 2 or 3 times a week. Since stopping contraception, the patient has had regular menses at 28-day intervals with no intermenstrual bleeding. On her first day of menses, she typically has severe cramping that causes her to miss work. The patient has also noticed increasing chronic lower abdominal discomfort and constipation; she has taken multiple over-counter-medications with minimal improvement. Her mother was diagnosed with ovarian cancer at age 56; family history is otherwise noncontributory. Vital signs are normal. BMI is 24 kg/m2. Pelvic examination shows a mobile, enlarged uterus that is irregular and has a prominent posterior mass. A urine pregnancy test is negative. Which of the following is the best next step in evaluation of this patient?
Uterine leiomyomas (fibroids) | |
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Workup |
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In women age <35, infertility is the lack of conception after ≥12 months of unprotected intercourse. Causes are classified into disorders of the uterus, fallopian tubes, or ovaries. This patient's irregularly enlarged uterus suggests uterine fibroids (leiomyomas), which are common in reproductive-aged women. Symptoms depend on fibroid size and location:
Submucosal fibroids can decrease fertility by protruding into the uterine cavity and disrupting the endometrium, thereby reducing the endometrial vascularity and thickness needed for optimal pregnancy implantation and growth. Therefore, patients may experience recurrent pregnancy loss.
Subserosal fibroids can cause uterine enlargement and bulk symptoms (eg, chronic pelvic discomfort). In this patient, a posterior fibroid (eg, prominent posterior mass) is likely compressing the colon and causing constipation.
Fibroids can be associated with dysmenorrhea (ie, severe menstrual cramping), possibly due to differences in tissue contractility and vascularity.
Diagnosis is with pelvic ultrasound because it is widely available, noninvasive (eg, no radiation exposure), and highly sensitive for female reproductive tract pathology (Choice B). Pelvic ultrasound performed after filling the uterine cavity with saline (ie, sonohysterography) is particularly sensitive for identifying submucosal fibroids that could be causing infertility.
(Choice A) CA-125 levels are measured in postmenopausal patients with an ovarian mass (risk stratification for malignancy) or known ovarian cancer (monitoring for recurrence). However, pelvic ultrasound is typically performed prior to CA-125 testing. In addition, CA-125 has poor disease specificity in premenopausal patients and is not indicated in this patient.
(Choice C) Diagnostic laparoscopy may be indicated during an infertility evaluation for the diagnosis and treatment of certain structural causes of infertility (eg, endometriosis, pelvic adhesions). However, less invasive evaluation with imaging is performed first.
(Choice D) Endometrial biopsy is used to evaluate endometrial cancer. In premenopausal women, endometrial cancer typically presents with abnormal uterine bleeding in the setting of risk factors (eg, obesity). It is not used in the evaluation of infertility.
(Choice E) Commonly used to evaluate infertility, hysterosalpingography can assess the fallopian tubes for patency and the uterine cavity for structural anomalies (eg, submucosal fibroid, uterine septum). However, pelvic ultrasound is performed first because it is less invasive and can evaluate other symptoms (eg, abdominal pain, constipation, palpable uterine mass), whereas hysterosalpingography does not.
Educational objective:
Uterine fibroids can cause decreased fertility, an irregularly enlarged uterus, and bulk symptoms (eg, pelvic pressure, constipation) depending on fibroid size and location. Diagnosis is with pelvic ultrasound.