Condition History and physical examination Laboratory and radiologic testing Comments
Female
Endometriosis or pelvic adhesions History of abdominal or pelvic surgery; history consistent with endometriosis Rarely helpful Generally diagnosed on laparoscopy; consider in women with otherwise unexplained infertility
Hypothalamic amenorrhea Amenorrhea or oligomenorrhea; low body mass index Low to normal FSH level; low estradiol level Encourage weight gain
Ovarian failure/insufficiency Amenorrhea or oligomenorrhea; menopausal symptoms; family history of early menopause; single ovary; chemotherapy or radiation therapy; previous ovarian surgery; history of autoimmune disease Elevated FSH level; low estradiol level Consider additional tests of ovarian reserve (antral follicle count, antimüllerian hormone level, clomiphene [Clomid] challenge test)
Ovulatory disorder Irregular menses; hirsutism; obesity (polycystic ovary syndrome); galactorrhea (hyperprolactinemia); fatigue; hair loss (hypothyroidism) Progesterone level < 5 ng per mL (15.9 nmol per L); elevated prolactin level; elevated TSH level [corrected] Check TSH and prolactin levels based on clinical symptoms
Tubal blockage History of pelvic infections or endometriosis Abnormal hysterosalpingography result Usually necessitates subspecialist referral for treatment
Uterine abnormalities Dyspareunia; dysmenorrhea; history of anatomic developmental abnormalities; family history of uterine fibroids; abnormal palpation and inspection Abnormal hysterosalpingography or ultrasonography result May necessitate subspecialist referral for treatment
Male
Genetic etiology:   Both syndromes result in normal semen volume but low sperm count Y deletions can be passed to offspring if intracytoplasmic sperm injection is used with in vitro fertilization; genetic counseling is indicated
  Y deletions Y deletions: small testes Y deletions may present as normal hormone levels or have an elevated FSH level  
  XXY (Klinefelter syndrome) Klinefelter phenotype: small testes, tall, gynecomastia, learning disabilities Klinefelter syndrome typically results in low testosterone level and an elevated FSH level  
Other genetics: Absence of the vas deferens Low volume semen analysis Because of the inheritance pattern, genetic testing of the partner is warranted, and counseling is indicated if she is a carrier
  CFTR gene (cystic fibrosis)
  5T allele (cystic fibrosis)
Obstruction of the vas deferens or epididymis Ejaculatory dysfunction History of infection, trauma, or vasectomy; normal testicular examination Low volume semen analysis; transrectal ultrasonography can identify obstruction Rare cause of infertility; evaluation reserved for fertility specialist
Systemic disease (not all-inclusive): Low FSH level; low testosterone level; check prolactin level and, if elevated, perform imaging for pituitary tumor Infiltrative processes that cause a small number of infertility cases; however, effective treatment is available
  Hemochromatosis
  Kallmann syndrome
  Pituitary tumor
  Sarcoidosis
Unclear etiology Normal testicular examination Normal FSH level; normal semen volume; low sperm count Subspecialist may consider testicular biopsy to determine obstructive vs. nonobstructive azoospermia