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How is infertility diagnosed? What to expect in a male and female infertility assessment

Last updated January 22, 2021

Medically Reviewed by Dr. Norbert Gleicher, MD, FACOG, FACS

If you have been struggling to conceive for more than a year, or more than six months if you are over 35, it may be helpful to consider an infertility consultation with a fertility expert.  The World Health Organization describes infertility as “a disease of the reproductive system defined by the failure to achieve a clinical pregnancy after 12 months or more of regular unprotected sexual intercourse.” It is not typically something that presents itself with direct symptoms. Usually, it is only when you struggle to get pregnant, that you might start worrying and suspect you might be infertile.

According to the American Society For Reproductive Medicine, infertility affects 7% of women between the ages of 20 and 24,  9% between the ages of 25 and 29, and 15% between the ages of 30 and 34, so it makes sense that younger women also go for a fertility check-up. If you are under 35, you may want to consider getting your anti-Müllerian hormone (AMH) levels checked as a baseline at your next OBGYN annual exam. The results will give you ample time to prepare for your reproductive future.

A fertility assessment with a trained fertility expert (a reproductive endocrinologist) is the best way to determine what may be affecting your ability to get pregnant, and whether the issue lies with you, your partner, or both.

A fertility assessment usually consists of a medical history, blood tests and physical examinations.  These results will help you better understand why you may be struggling to get pregnant and find reliable guidance, including treatment options, on your journey to parenthood.

Your gynecologist may be able to perform a full fertility assessment or depending on how long you have been trying to get pregnant, they may refer you directly to a fertility specialist.

What happens during the female fertility assessment?

First, the physician will ask you questions related to your lifestyle as well as personal and family medical history to help evaluate your risk of infertility. Topics that may be discussed include:

  • Do you or your family suffer from chronic illnesses?
  • Have you undergone surgical treatments?
  • Do you use any prescription medications?
  • What is your menstrual and pregnancy history?
  • What are your current and past sexual habits?
  • Do you smoke cigarettes, drink alcohol or caffeine, or use drugs?
  • Are you exposed to any chemicals, toxins, or radiation at home or work?
  • What type of underwear do you wear? (this question will come up during a male fertility test as tight underwear increases the temperature of the scrotum which has been shown to decrease sperm production).

Your doctor will then do a thorough physical exam. It is important that all of your physical parts are working properly to ensure that pregnancy is possible. Your physical exam will check that all of your reproductive organs are in good working order and discover any abnormalities in the process important for fertilization.  It will likely include an ultrasound to check the condition of your ovaries, endometrial lining, and uterus.

Based on what they find, your doctor may also order a Hysterosalpingography (HSG) test.  This is a physical procedure that involves scanning your uterus and fallopian tubes for impairments. The test is done mostly to check if your fallopian tubes are partly or fully blocked and that there are no abnormalities in the size and shape of your uterus.

Your doctor may then draw blood to help understand what may be happening in your body at a cellular level and/or may advise you to start testing a few hormones at home depending on your results.

Ovarian reserve testing: All women are born with all the eggs they will ever have – this is called your ovarian reserve.  Your doctor may conduct ovarian reserve tests, carried out at the beginning of your menstrual cycle, to analyze your blood for Follicle-Stimulating Hormone (FSH), Anti-Mullerian Hormone (AMH), and Estradiol to determine the quality and quantity of your ovarian reserve.

    • The Follicle-Stimulating Hormone test checks the level of follicle-stimulating hormone in your blood. This hormone is responsible for regulating your menstrual cycle and stimulates the maturation of your eggs in your ovaries.
    • The Anti-Mullerian Hormone test measures your ovarian reserve and egg quantity by checking the level of the AMH hormone. AMH is a hormone produced by cells from the small follicles in a woman’s ovaries and is used as a marker of egg quantity.
    • The Estradiol test measures the amount one of the main types of estrogen produced by the ovaries – in your blood. During menstruation, increased estradiol levels cause the maturation and release of the egg, as well as the thickening of the uterus lining to allow a fertilized egg to implant.

 

Ovulation testing: You can test for ovulation at home, without a doctor.  Ovulation at-home test strips work by measuring levels of luteinizing hormone (LH) in your urine.  Your ovary releases an egg when signaled to do so by a rise in luteinizing hormone — so when your LH levels reach a certain threshold, it is safe to assume that ovulation will occur within the next 12 to 36 hours.  These are available at most drugstores.

Additional hormone testing: Your doctor may also do blood tests to check for other key hormones needed during pregnancy such as:

  • Progesterone: a hormone that prepares your uterus for a fertilized egg and the breast to produce milk.
  • DHEA: a naturally occurring hormone produced by the adrenal glands and used by the ovaries to make the androgens (male hormones) needed for healthy egg development. This hormone precursor naturally decreases as we age, especially after age 35.
  • Androstenedione: a hormone produced by the ovaries and converted to estrogen for the normal development of female secondary sex characteristics.

 

What happens during the male fertility assessment?

The physician will discuss the same risk factors with your partner and follow up with a general physical exam. For a successful fertilization, your partner must generate enough healthy sperm that discharge effectively within the female reproductive tract and are healthy enough to swim upward to meet your egg. The purpose of the male fertility test is to make sure that your partner’s reproductive organs are in good working order and to discover any abnormalities in the process important for fertilization. He may undergo the one or more of the following evaluations over a period of time:

Sperm analysis: To understand the health of sperm, your partner may have to provide a sperm sample.  He will be asked to ejaculate into a plastic container – super awkward we know.  But most clinics work to make this as comfortable as possible with a private room. His sample will then be sent off for lab testing to check his sperm count, their shape, movement, and other characteristics.  If you are experiencing trouble conceiving, your male partner or donor may want to consider taking supplements to increase the quality of his sperm.

Hormone testing: a blood test will analyze the presence of testosterone and other hormones involved in sexual development and sperm production.

Genetic testing: this test is done to determine if there are any hereditary abnormalities that affect sperm concentration. Some of the most common genetic tests include Karyotype (the measurement of the size, shape, and number of chromosomes), a Y-chromosome microdeletion test (which checks for small deletions in the Y chromosome affecting sperm production or sperm transport), and a Cystic fibrosis (CF) gene test to check that there is no blockage in the tube that moves the sperm from the testicles.

Scrotal ultrasound: Your partner may need a scrotal ultrasound where high-frequency sound waves will be used to detect defects in the testicles and surrounding parts.  Don’t worry – this doesn’t hurt!

Testicular biopsy: Based on the results of the test above, if needed, a small tissue sample may need to be removed from his testicles to check for additional factors affecting fertility.

For both men and women, it can take only a couple of tests to identify the cause of infertility.  For others, the start of testing is the start of a longer, more complicated journey.  Which treatments are prescribed and for how long depend on multiple variables and contributing factors.

Knowledge is power. Your doctor can provide you with helpful information on every aspect of infertility testing, from what your results mean, to your best treatment options to the benefits and risks of each treatment. It can be overwhelming and confusing but do not hesitate to ask questions and reach out for support – within the medical community, online groups, family and friends and others who are on the same journey.

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