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Causes and Diagnosis of Infertility

Reproductive Medicine and Infertility Care Lab

Seeking infertility care can be a difficult step.  The Reproductive Medicine specialists and team members at Billings Clinic provide a caring environment to help you understand the cause of your infertility and determine the best treatment for you and your partner. 

Fertility 101 - Getting Pregnant

Before a couple attempts pregnancy, the woman should make attempts to adopt a healthy life style and begin prenatal vitamins. If she has a medical or genetic condition, she should seek medical advice from a healthcare provider before attempting pregnancy.

There is no simple answer to the question of chances of conception each month. The age of female and the length of which a couple has been attempting pregnancy affect the chances of conception each month. The highest chances of conception occur during the first three months of attempts.

There are several key components to optimizing natural fertility in a couple attempting pregnancy. An important component of improving fertility is to understand the fertile window; when the highest chances of pregnancy occur. The fertile window interval in each cycle is typically the five days before ovulation and the day of ovulation. The highest chances of pregnancy occur with attempts of conception taking place one to two days prior to ovulation and on the day of ovulation.

Other factors can affect attempts at natural conception, including lifestyle factors of weight, tobacco use, alcohol abuse, and drug use.

Fertility Evaluation Basics

Infertility is a unique medical condition because it typically involves a couple, rather than a single individual. A fertility evaluation should be started after 12 months of attempts of conception in women less than 35 years old or after six months of women ages 35-40, or before attempts of conception in women over the age of 40.

A Fertility Evaluation will include a complete medical history of both the male and female partners. Factors that can affect fertility include medications, lifestyle choices, medical problems, sperm factors, ovulation dysfunction, egg quantity and quality parameters and pelvic anatomy difficulties. Specific tests can be performed in order to help diagnose the cause of your infertility. Once these tests are completed, your reproductive doctor will sit down with you to devise a tailored plan in order to help you to achieve a pregnancy.


Up to 40% of a couples infertility may be related to male factor. Male partners will have an evaluation containing a thorough review of the medical history including any injuries, surgeries, usage of medications/supplements and lifestyle habits including tobacco and alcohol use.

Laboratory testing will include a semen analysis. This is where a sample of semen is collected either at home or in a private comfortable room at the laboratory. This is preferably collected after 2-5 days of abstinence. The semen is then evaluated for total volume, sperm count, motility and shape. If there are any abnormalities in the sample, a repeat semen analysis or referral to Urology for further evaluation may be warranted.


Up to 40% of infertility is female related which can be attributed to ovarian issues including ovulation, ovarian reserve and pelvic anatomy. In order to evaluate these factors, a thorough examination will be performed including information regarding medical health history, previous injuries, surgeries, current and past medications/supplements, and lifestyle habits.

Laboratory testing for fertility and other blood test for additional medical problems may be drawn during the initial consult. Basic Labs may include: Anti- mullerian hormone, Follicle Stimulating Hormone, Estradiol, Thyroid stimulating hormone, Blood typing with Rh, and Varicella and Rubella titers for immunity.

A transvaginal ultrasound may also be performed in the office. The ultrasound is used to visualize the uterus, endometrial lining and ovaries for follicular counts.

Saline infused sonogram. This is a separate type of special ultrasound that infuses saline solution into the uterine cavity to visualize for any abnormalities within the endometrial lining.

HSG (Hysterosalpingogram). This is a test performed in radiology and will allow your doctor to see if there is a problem with the uterus and/or fallopian tubes. The test evaluates the uterine shape and patency of the fallopian tubes. With this test, a solution is placed into the uterus which then flows out through the fallopian tubes when they are open.

Up to 20 % of infertility can be unexplained. Unexplained infertility is diagnosed when all test return with normal results and you still are having difficulty achieving a pregnancy. If you are diagnosed with Unexplained Infertility, your doctor can still assist in developing a plan to help you get pregnant.

Age and Eggs

One of the most important aspects of fertility success is a woman’s age. Women are born with a cohort of eggs (oocytes) she will have her entire life. Unfortunately, no new eggs are formed throughout a woman’s life and the number of eggs steadily declines over time. When the number of remaining eggs drops below a critical number, ovulation stops and menopause approaches.

There are two important aspects of reproductive aging in women, the decline in the number of eggs (quantity) and the decline in the quality of the remaining eggs. Fertility concerns in older women are critically related to the poor quality of aging eggs, especially in women in their mid to late 30’s and early 40’s. Aging eggs contribute to a lower chance of pregnancy each month, higher rates of miscarriage and higher rates of babies born with chromosomal abnormalities. At age 40, the chance of pregnancy is less than 5% each month.

The American Society of Reproductive Medicine currently recommends an evaluation by an infertility specialist for women over the age of 35 years with 6 months of infertility and all women 40 years of age and older (before attempting pregnancy).

Male Fertility Factor

Infertility is often believed to be a woman's problem. However, up to 40% of a couples infertility can be caused by male factor problems such as reproductive structural abnormalities, sperm production disorders, ejaculatory disturbances and immunologic disorders.

When a male factor problem is diagnosed during the fertility evaluation, an appointment with a fertility urologist may be indicated. Laboratory evaluations may include a pituitary hormone profile, testosterone labs and genetic studies.

Possible Male Factor problems include:

  1. Structural Abnormalities -including abnormalities from birth (congenital) or abnormalities that have resulted from surgery or a previous infection. Structural abnormalities that may also impact sperm include a varicocele or a previous vasectomy reversal.
  2. Sperm Production Disorders- including hormonal sperm production problems from the brain or from the testicle.
  3. Ejaculatory/Erectile Dysfunction - including impotence and retrograde ejaculation
  4. Endocrine or Immunologic Disorders

Specific treatments for male factor infertility will be determined by a team of infertility providers including the Urologist and the Reproductive Medicine Provider. Treatments will vary depending on age, overall health, medical history, the extent of infertility in the couple as well as a patients preference.

There is a range of treatment options currently available for male factor infertility. Treatment may include:
  • Intrauterine Inseminations (IUI). This procedure involves washing of the sperm sample to remove extra cells/fluid, and non-motile sperm and then placement of relatively large numbers of healthy sperm into the partner's uterus.
  • IVF. In vitro fertilization (IVF) is a common treatment for male infertility. During IVF, eggs are removed from the female partner and the eggs and sperm are combined in a laboratory setting, so that eggs are exposed to an optimal concentration of high quality, motile sperm.
  • IVF with ICSI -intracytoplasmic sperm injection. This treatment is used to facilitate sperm penetration of an egg during IVF by injection of a single sperm into the egg.
  • Drug therapy. A small percentage of infertile men have a hormonal disorder that can be treated with hormone therapy. Hormonal imbalances caused by a dysfunction in the mechanism of interaction between the hypothalamus, the pituitary gland, and the testes directly affect the development of sperm (spermatogenesis). Drug therapy may include gonadotropin therapy, antibiotics, or another medication deemed appropriate.
  • Surgery. Surgical therapy in male infertility is designed to overcome anatomical barriers that impede sperm production and maturation or ejaculation. Surgical procedures to remove varicose veins in the scrotum (varicocele) can sometimes serve to improve the quality of sperm.

Polycystic Ovarian Syndrome

Polycystic Ovarian Syndrome (PCOS) is a reproductive endocrine disorder affecting up to 10% of the population. Women with PCOS can have higher male hormone levels (androgens) which can lead to signs of acne, an increase in hair loss on the scalp and an increase facial or body hair growth and lead to a lack of ovulation and irregular or absent menstrual cycles. Many women with PCOS may also have insulin resistance which causes the insulin produced to not function properly in order to break down glucose. This can lead to difficulty with weight loss and result in weight gain.

In order to diagnose PCOS, a medical history is taken and physical exam, laboratory testing and an ultrasound are performed by a healthcare provider. Laboratory testing may include, androgen levels, lipid profile, blood sugar levels, and other hormone levels to rule out other disease processes.

Treatment for PCOS is dependent on whether or not the patient is attempting pregnancy. In patients who are not attempting to conceive, the goals of treatment are to improve abnormal hair growth and acne, restore normal cycles and prevent the uterus from having abnormal cells. Medications used to decrease androgen levels include anti-androgen medications, oral contraceptive pills and metformin. In patients who are overweight, weight reduction can reduce the elevated androgens, improve insulin levels and restore normal menstrual cycles. Hair removal techniques can also be used to eliminate unwanted hair growth.

If pregnancy is desired, oral medications and injectable medications can be used to help with monthly egg growth and ovulation.

It is important for patients who are diagnosed with PCOS to maintain healthy lifestyle habits with adequate exercise and a balanced diet.

Uterine Anomalies

Uterine anomalies are congenital abnormalities of the uterus that are often asymptomatic and can go unrecognized. These anomalies may affect a women’s gynecological and obstetrical health. Many of the anomalies are initially diagnosed or suspected due to a symptom such as infertility, recurrent pregnancy loss, pelvic mass, or pelvic pain. Uterine anomalies are rare, affecting only 2-4% of reproductive aged women. The underlying causes of uterine anomalies are not well understood.

A few classification systems exist to define the anomaly and the prognosis. The European Society of Human Reproduction and Embryology (ESHRE) and the American Fertility Society (AFS) classification systems are the most widely used.

Imaging to define the specific uterine anomaly can include ultrasounds, hysterosalpingograms, saline sonograms, or magnetic resonance imaging (MRI). In some complicated cases of a uterine anomaly, additional information can be obtained by an examination under anesthesia.

Treatments for uterine anomalies are dependent on the classification of the anomaly. Treatments can include surgery, expectant management or additional medications during pregnancy.

Uterine Fibroids

Uterine fibroids are the most common type of non-cancerous uterine tumors in women. Fibroids are thought to occur in up to 12 to 25% of women. Fibroids can cause heavy menses, longer menses, pelvic pain, pelvic pressure, infertility, and miscarriages. Fibroids are described by their location and size.

Risk factors for uterine fibroids include smoking, race, family history, certain types of menstrual histories, and obesity. Fibroids are often found on pelvic examination. Further imaging usually classifies the location and size of fibroids. These imaging modalities can include ultrasound, diagnostic hysteroscopy, magnetic resonance imaging (MRI), and saline sonograms.

Treatments for uterine fibroids include medicines, surgeries to remove the fibroids (myomectomy), treatments to cut off the blood supply to the fibroids, and surgery to remove the uterus (hysterectomy).


Endometriosis is a disease affecting women during their reproductive years. Each month as the endometrial tissue is shed during the menstrual cycle, endometrial cells (implants) are also deposited outside of the uterus onto the surrounding pelvic structures.

There are several theories for cause endometriosis. No one theory has been completely accepted by the scientific community. These theories include:

  • Retrograde menstruation- where the endometrial lining that is being shed, gets pushed back up through the fallopian tubes and is spread into the abdominal cavity.
  • Genetic factors. Endometriosis can run in families and usually affects first degree relatives (Mother, sister). Family history can increase the likelihood of developing endometriosis by up to 8-10%.
  • Immune Factors

With normal hormone level changes, the endometrial implants go through the same growth pattern as the endometrial tissue within the uterus. As hormone levels change, pain, inflammation and bleeding can result from these implantations. The size and location of the implants can vary, with implants on the ovaries that become cysts being called “endometriomas”.

With the increased amount of implants, there can be tissue inflammation and scarring that can take place.
Many patients may be asymptomatic whereas, others have pelvic pain, painful intercourse, painful periods, and infertility that progressively worsens as the endometriosis advances. These symptoms can lead to a disruption in normal daily activities. In order to diagnose endometriosis, a thorough health history is first obtained with menstrual cycles, pain level and family history.

Based on the evaluation and recommendation by your doctor, several diagnostic tests may be performed to evaluate the reproductive structures.

  • A transvaginal ultrasound can be performed in the office to evaluate the endometrial lining of the uterus. It is also used to visualize the ovaries for any abnormal cysts or “endometriomas”
  • A saline infused sonogram can also be performed in the office to evaluate the uterus and to see if there are any abnormalities within the endometrial cavity.
  • An HSG is a dye test that is performed in the radiology department. This test is used to evaluate the shape of the uterus and to validate the status of the fallopian tubes ( blocked or open)
  • Laparoscopic surgery may also be performed to evaluate the pelvic structures and to visualize if implants are present and to what degree.

Treatment for Endometriosis

There are several treatment options for Endometriosis with a goal of decreasing pain and improving the quality of life for patients. Anti-inflammatory medications such as Ibuprofen can be taken to help alleviate the pain and discomfort. Oral contraceptive pills are another option. They are often prescribed to stabilize estrogen and progesterone levels and to decrease further growth of endometrial implants. Injectable medications can be used as well including, Depo-Provera, Provera, Norethindrone, and Lupron. However, once medication therapy is discontinued, the growth of endometrial implants may reoccur.

Endometriosis can cause infertility. Endometriosis can cause a decline in egg quantity, egg quality, problems with transport of eggs/embryos and difficulty with implantation. Fertility treatments including expectant management, oral medications with inseminations, injectable medications with inseminations and in-vitro fertilization may be prescribed.

Unexplained Infertility

Unexplained infertility is defined as the absence of a definable cause for a couples failure to achieve pregnancy despite a thorough evaluation. Unexplained infertility is common and can account for diagnosis in 15-20% in all infertile couples. A thorough evaluation typically includes documentation of ovulation, tubal patency, normal uterine cavity, normal semen analysis and an adequate ovarian reserve.

Treatments for couples with unexplained infertility typically start with protocols that consume few resources and are patient directed and move sequentially to treatments that are more resources intensive. Treatments may include expectant management, oral medications plus inseminations, injectable medications plus insemination and in-vitro fertilization.

Secondary Infertility

Secondary infertility occurs after a woman has had a previous pregnancy and is unable to conceive again despite having regular unprotected intercourse. Common conditions that can lead to secondary infertility are:

  • Tubal disease
  • Endometriosis
  • Ovulation disorder
  • Uterine abnormalities
  • Advanced maternal age
  • Elevated BMI
  • Male Factor Infertility
  • PCOS

In order to diagnose secondary infertility, a thorough evaluation of your health history is obtained including, past medical, surgical, gynecological, menstrual cycles, medications and coital history. In addition, bloodwork is obtained to evaluate the thyroid stimulating hormone, Anti-mullerian hormone level, Rh factor for blood type, varicella and rubella status. Additional blood work can be evaluated depending on your health history.

Based on the recommendation from your doctor, diagnostic tests and imaging can also be performed in order to evaluate the uterus, fallopian tubes and ovaries. These may include a transvaginal ultrasound, a saline infused sonogram, or a hysterosalpingogram.

It is also important to evaluate the male partner by obtaining a semen analysis since, 40% of infertility is related to male factor.

Recurrent Pregnancy Loss

Miscarriage is a common complication of pregnancy, accounting for about 15% of all pregnancies. Recurrent miscarriage occurs with two consecutive clinical pregnancy losses and can impact up to 5% of all couples. Causes for recurrent pregnancy loss (RPL) include genetics, anatomic, immune, blood clotting disorders, hormonal, infectious or unexplained.

Treatment for recurrent pregnancy loss must be tailored to the specific cause. Even when unexplained RPL is the diagnosis, treatments are available to increase changes of a successful pregnancy. It is also important to address the psychological impact RPL can have on the patient, the couple and the rest of the family. Psychosocial support is an important part of any treatment plan for RPL and the Billings Clinic has several resources available to help.

Tubal Disease

Tubal disease is a leading causes of female infertility. Tubal Disease is where the fallopian tubes are blocked or damaged not allowing eggs and sperm to meet or embryos to pass into the uterus. Conditions that can contribute to tubal disease include; previous infections, scar tissue resulting from endometriosis or previous abdominal surgery, ruptured ectopic pregnancy or tubal ligation.

In order to evaluate and diagnose tubal disease, or blockage of fallopian tubes, a hysterosalpingogram can be performed. This is a dye test performed in the radiology department using a special solution (dye) which, is instilled into the uterus and flows out through the fallopian tubes when they are open. If they are blocked or damaged, the dye will not be able to pass through the fallopian tubes.

Tubal disease does not always affect both fallopian tubes. However, fertility treatments are available for patients who desire to become pregnant. Each ovary has a cohort of follicles or eggs that are chosen to grow each month in order for fertilization to occur. Out of all of these follicles, one egg is chosen to be fertilized. It is unpredictable which ovary will be naturally selected to produce the mature egg. Therefore, ultrasounds are usually performed in cases with tubal disease present. For patients who have a working fallopian tube, ovulation induction using medications is a possibility for conception. Other options for fertility may include In-Vitro Fertilization and or in rare cases tubal surgery.

For More Information or to Schedule a Consultation

In Billings, call 406-238-2904 or 1-800-332-7156, ext. 2904
Fax: 406-247-6839

In Bozeman, call 406-994-9823 or toll free 866-587-9202.
Fax: 406-994-9821

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Appointments are also available at Community Medical Center in Missoula.

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