INITIAL APPROACH — Both partners of an infertile couple should be evaluated for factors that could be impairing fertility. The infertility specialist then uses this information to counsel the couple about the possible etiologies of their infertility and to offer a treatment plan targeted to their specific needs.

It is important to remember that the couple may have multiple factors contributing to their infertility; therefore, a complete initial diagnostic evaluation should be performed to detect the most common causes of infertility, if present. When applicable, evaluation of both partners is performed concurrently .

The recognition, evaluation, and treatment of infertility are stressful for most couples . The clinician should not ignore the couple’s emotional state, which may include depression, anger, anxiety, and marital discord. Information should be supportive and informative.

History and physical examination — Findings on history and physical examination may suggest the cause of infertility and thus help focus the diagnostic evaluation. Components of the infertility history are listed in the table .

History — The most important points in the history are:

  • Duration of infertility and results of previous evaluation and therapy.
  • Menstrual history (cycle length and characteristics), which helps in determining ovulatory status. For example, regular monthly cycles with molimina (breast tenderness, ovulatory pain, bloating) suggest the patient is ovulatory and characteristics such as severe dysmenorrhea suggest endometriosis.
  • Medical, surgical, and gynecological history (including sexually transmitted infections, pelvic inflammatory disease, and treatment of abnormal Pap smears) to look for conditions, procedures, or medications potentially associated with infertility. At a minimum, the review of systems should determine whether the patient has symptoms of thyroid disease, galactorrhea, hirsutism, pelvic or abdominal pain, dysmenorrhea, or dyspareunia. Young women who have undergone unilateral oophorectomy generally do not have reduced fertility since young women have many primordial follicles per ovary; however, prior unilateral oophorectomy may impact fertility in older women as they may develop diminished ovarian reserve sooner than women with two ovaries  .
  • Obstetrical history to assess for events potentially associated with subsequent infertility or adverse outcome in a future pregnancy.
  • Sexual history, including sexual dysfunction and frequency of coitus. Infrequent or ineffective coitus can be an explanation for infertility.
  • Family history, including family members with infertility, birth defects, genetic mutations, or mental retardation. Women with fragile X premutation may develop premature ovarian failure, while males may have learning problems, developmental delay, or autistic features.
  • Personal and lifestyle history including age, occupation, exercise, stress, dieting/changes in weight, smoking, and alcohol use, all of which can affect fertility.

Physical examination — The physical examination should assess for signs of potential causes of infertility. The patient’s body mass index (BMI) should be calculated and fat distribution noted, as extremes of BMI are associated with reduced fertility and abdominal obesity is associated with insulin resistance.

Incomplete development of secondary sexual characteristics is a sign of hypogonadotropic hypogonadism. A body habitus that is short and stocky, with a squarely shaped chest, suggests Turner syndrome.

Abnormalities of the thyroid gland, galactorrhea, or signs of androgen excess (hirsutism, acne, male pattern baldness, virilization) suggest the presence of an endocrinopathy (eg, hyper- or hypothyroidism, hyperprolactinemia, polycystic ovary syndrome, adrenal disorder).

Tenderness or masses in the adnexae or posterior cul-de-sac (pouch of Douglas) are consistent with chronic pelvic inflammatory disease or endometriosis. Palpable tender nodules in the posterior cul-de-sac, uterosacral ligaments, or rectovaginal septum are additional signs of en

dometriosis.

Vaginal/cervical structural abnormalities or discharge suggest the presence of a müllerian anomaly, infection, or cervical factor.

Uterine enlargement, irregularity, or lack of mobility are signs of a uterine anomaly, leiomyoma, endometriosis, or pelvic adhesive disease.