Monday, May 29, 2023


Practice Essentials

Infertility is the failure to conceive (regardless of cause) after 1 year of unprotected intercourse. This condition affects approximately 10-15% of reproductive-aged couples.

Female and male factor infertility

Female factors that affect fertility include the following categories:

Cervical: Stenosis or abnormalities of the mucus-sperm interaction

Uterine: Congenital or acquired defects; may affect endometrium or myometrium; may be associated with primary infertility or with pregnancy wastage and premature delivery

Ovarian: Alteration in the frequency and duration of the menstrual cycle—Failure to ovulate is the most common infertility problem

Tubal: Abnormalities or damage to the fallopian tube; may be congenital or acquired

Peritoneal: Anatomic defects or physiologic dysfunctions (eg, infection, adhesions, adnexal masses)

Male factors that affect fertility include the following categories:

Pretesticular: Congenital or acquired diseases of the hypothalamus, pituitary, or peripheral organs that alter the hypothalamic-pituitary axis

Testicular: Genetic or nongenetic

Posttesticular: Congenital or acquired factors that disrupt normal transport of sperm through the ductal system

Factors that affect the fertility of both sexes include the following:

Environmental/occupational factors

Toxic effects related to tobacco, marijuana, or other drugs

Excessive exercise

Inadequate diet associated with extreme weight loss or gain

Advanced age

Evaluation of infertility

Infertility is a problem that involves both partners. Diagnostic testing is unnecessary if the couple has not attempted to conceive for at least 1 year, unless the woman is age 35 years or older, or if they have a history of a male factor infertility, endometriosis, a tubal factor, diethylstilbestrol (DES) exposure, pelvic inflammatory disease, or pelvic surgery. A complete infertility evaluation is performed according to the woman’s menstrual cycle and may take up to 2 menstrual cycles before the etiology is determined.

Obtain the following medical history and information from the couple:

Copy of previous medical records

Completed medical history questionnaire

Details regarding the type of infertility (primary or secondary) and its duration

History of previous pregnancies and their outcomes; pregnancy intervals; and detailed information about pregnancy loss, pregnancy duration, human chorionic gonadotropin (hCG) level, ultrasonographic data, and presence/absence of fetal heartbeat

History of previous infertility evaluation/treatment, including details about frequency of intercourse, use of lubricants (eg, K-Y gel) that could be spermicidal, use of vaginal douches after intercourse, and presence of any sexual dysfunction

Female menstrual history, frequency, and patterns since menarche, as well as history of weight changes, hirsutism, frontal balding, and acne

Male medical history, including previous semen analysis results, history of impotence, premature ejaculation, change in libido, history of testicular trauma, previous relationships, history of any previous pregnancy in female partners, and the existence of offspring from previous female partners

Couple’s history of sexually transmitted diseases (STDs); surgical contraception (eg, vasectomy, tubal ligation); lifestyle; consumption of alcohol, tobacco, and recreational drugs (amount and frequency); occupation; and physical activities

Couple’s current medical treatment (if any), reason, and any history of allergies

Complete review of systems to identify any endocrinologic or immunologic issue that may be associated with infertility

Examination for infertility should include the following:

Routine records of blood pressure, pulse rate, and temperature (if applicable)

Height/weight findings to calculate body mass index; measure arm span when indicated

Head and neck assessment: (1) The presence of exophthalmos can be associated with hyperthyroidism; (2) the presence of epicanthus, lower implantation of ears and hairline, and webbed neck can be associated with chromosomal abnormalities; (3) exclude thyroid gland enlargement/nodules, which may indicate thyroid dysfunction

Breast evaluation: Assess breast development and seek any abnormal masses or secretions, especially galactorrhea

Abdominal evaluation: Assess for presence of abnormal masses at hypogastrium level

Thorough gynecologic evaluation: Assess for hair distribution, clitoris size, Bartholin glands, labia majora/minora, and any condylomata acuminatum or other lesions that could indicate the existence of venereal disease

Speculum examination: Obtain a Papanicolaou test and cultures for gonorrhea, chlamydia, Ureaplasma urealyticum,Mycoplasma hominis; assess for cervical stenosis

Bimanual examination: Establish direction of the cervix plus size/position of the uterus to exclude the presence of uterine fibroids, adnexal masses, tenderness, or pelvic nodules indicative of infection or endometriosis; assess for defects (eg, absence of vagina and uterus, vaginal septum)

Extremities evaluation: Exclude malformation (eg, shortness of fourth finger, cubitus valgus), which can indicate chromosomal abnormalities and other congenital defects

Dermatologic evaluation: Assess for the presence of acne, hypertrichosis, and hirsutism

The urologist usually examines the male partner if the patient’s history of his semen analysis produces an abnormal finding. Attention should be directed to the following:

Congenital abnormalities of the genital tract (eg, hypospadias, cryptorchid, congenital absence of the vas deferens)

Testicular size, urethral stenosis, and presence of any varicocele

Any previous inguinal hernia repair: Can indicate accidental ligation of spermatic artery

Laboratory, imaging, and/or surgical evaluation

Laboratory, radiologic, and/or surgical assessment of the female includes the following areas:

Cervical: Postcoital test or Sims-Huhner test
; no longer routine in standard infertility workup

Uterine and endometrial: Hysterosalpingogram—most frequently used diagnostic tool to assess endometrial cavity (see the image below); pelvic ultrasonograms; saline infusion sonograms; pelvic magnetic resonance imaging; hysteroscopy; endometrial biopsy

Infertility. Hysterosalpingogram image demonstrati

Infertility. Hysterosalpingogram image demonstrating normal findings with bilateral spillage. Image courtesy of Jairo E. Garcia, MD.

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Tubal and peritoneal: Laparoscopy and hysterosalpingogram

Ovarian: Progesterone levels and/or serial ultrasonography to assess ovulation; follicle-stimulating hormone and estradiol levels (or antral follicle counts, ovarian volume, inhibin B level, and antimüllerian hormone level) to assess ovarian reserve; clomiphene citrate challenge test for dynamic ovarian reserve testing

Laboratory evaluation of the male partner includes the following:

Semen analysis: Volume, pH level, concentration, motility, morphology, WBC count

Sperm function tests: (1) The acrosome reaction test with fluorescent lectins or antibodies, (2) computer assessment of the sperm head, (3) computer motility assessment, (4) hemizona-binding assay, (5) hamster penetration test, and (6) human sperm-zona penetration assay

Treatment of infertility

Treatment plans are based on the diagnosis, duration of infertility, and the woman’s age. Management of any underlying female and/or male factors affecting fertility may include medical treatment (eg, pharmacotherapy), surgical intervention, or both.

Assisted Reproductive Technologies

Assisted reproductive technologies used to treat infertility include the following:

In vitro fertilization (IVF)

Gamete intrafallopian transfer (GIFT)

Zygote intrafallopian transfer ZIFT)

Intracytoplasmic sperm injection (ICSI)

Intrauterine insemination (IUI)

Sperm, oocyte, or embryo cryopreservation

Assisted fertilization techniques used clinically include ICSI and assisted hatching.

Alternative treatment plans

If pregnancy has not been established within a reasonable time, consider further evaluation and/or an alternative treatment plan, such as use of donor oocyte, sperm, or embryo, or the use of a gestational carrier or surrogate mother.

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