Confronting an infertility diagnosis can be difficult but it is an important milestone. It marks progress on your path to resolving your infertility. Regardless of whether the cause is male-related or female-related it is best if you and your partner deal with infertility as a couple.
Coping with infertility can be exhausting because of the emotional ups and downs as well as adapting to unknowns â€“ such as new healthcare providers and new terminology. A couple must become proficient in the new language quickly to understand the problems they face. In the diagnosis phase, you want to know as much as you can about your condition. Knowledge may help restore some sense of control to your life and allow you to make informed decisions as you enter the treatment phase.
Understanding the causes of infertility may take a little research. The information in this section can be a valuable resource. It details the most common diagnoses for female infertility, including their symptoms, causes and how they are typically treated.
Amenorrhea is the medical term used for the absence of menstruation. If a woman has stopped having periods, it usually indicates a defect in the system and warrants investigation.
A missed period, abnormal hair growth, breast-milk production in the absence of pregnancy, and trouble with balance, coordination or vision, are symptoms associated with amenorrhea. Amenorrhea in turn is symptomatic of another infertility condition called anovulation.
Several factors can cause amenorrhea including:
- Polycystic Ovaries (the most common cause)
- Hyperprolactinemia (excessive production of the hormone prolactin)
- Mullerian anomalies (congenital developmental abnormalities of the uterus)
- Decreased secretion of hormones by the hypothalamus or pituitary glands
- Blockage of the cervix
If healthcare providers confirm that a woman's amenorrhea stems from hyperprolactinemia, they may prescribe bromocriptine, which can suppress prolactin production first. Other treatments include ovulation induction with clomiphene and/or surgery.
Anovulation is the medical term used when a woman does not ovulate. Ovulation is the release of mature eggs from a woman's ovary and is a critical part of the reproductive process.
Anovulation is a condition that can occur without any symptoms. The most common symptom is an extended menstrual cycle. Amenorrhea (the absence of menstruation) may signal anovulation, as well as inconsistent basal body temperature (BBT).
Anovulation can result from several factors including hormonal imbalances, age and early menopause.
Treatments for anovulation range from non-invasive methods such as drug therapy to more involved processes like surgical procedures. The variety of treatments varies depending on the cause of their infertility.
Examples of anovulation treatments are listed here:
- Ovulation inducing drugs
- In vitro fertilization (IVF)
- Ovarian wedge resection and laparoscopic ovarian drilling
- Donor eggs
The lining of the uterus is called the endometrium and it is shed monthly if pregnancy does not occur. The endometrial tissue passes through the uterus and outside the body in the form of menstrual bleeding. Endometriosis results when menstrual bleeding flows backwards through the fallopian tubes and grows outside the uterus. Distortion of the anatomy due to endometriosis can block the fallopian tubes and prevent the sperm from reaching and fertilizing the egg. Some theorize that endometriosis can secrete toxins that can reduce fertility.
Painful intercourse and painful, heavy menstrual periods may be symptoms of endometriosis. However, some cases of endometriosis are totally without symptoms. A surgical procedure called a laparoscopy can confirm the diagnosis of endometriosis.
The cause endometriosis is not clear; however a leading theory is retrograde menstruation. This backward flow of menstrual bleeding through the tubes and into the pelvis might cause the endometrial cells to implant on the ovaries, uterus and other non-reproductive abdominal organs. Researchers also think that it could be genetic, since female family members sometimes share the condition.
Endometriosis can be treated in several ways, depending on the severity of the condition:
- Drug treatment: The least invasive treatment uses drugs or other GnRH agonists. The drugs work by suppressing the pituitary gland and the secretion of hormones that may be causing the endometriosis. You cannot get pregnant while taking these drugs. They are contra-indicated if you are trying to fall pregnant
- Surgical treatment: Procedures such as laparoscopy or laparotomy can surgically remove endometrial implants or adhesions (scarring) that result from endometriosis. After surgery the healthcare provider may prescribe clomiphene or gonadotropins to help recruit multiple follicles, induce ovulation and increase the chances of conception
- Assisted reproductive technology: In vitro fertilization (IVF) is recommended when the fallopian tubes have been damaged. However, the more severe the endometriosis is, the lower the chance of conception
These non-cancerous masses are found in the uterus or cervix. Uterine fibroids are found in one out of every four or five women in their 30s and 40s. They can cause tubal blockages, prevent the embryo from attaching to the uterine wall and cause miscarriage. The impact the fibroids have on fertility depends upon their size and location.
Painful and heavy periods are present in up to half of the women with this condition. Other signals of fibroids include pressure or pelvic pain and the sensation of a mass. Diagnostic tools such as pelvic ultrasound, hysterosalpingography, hysteroscopy, or laparoscopy can diagnose fibroids.
Excessive estrogen levels can cause fibroid tumors. Estrogen is a female hormone that helps regulate the menstrual cycle and has been known to stimulate the growth of fibroids.
Surgical treatments such as hysteroscopy, laparoscopy and myomectomy are used to diagnose and treat fibroids. Drug therapies such as GnRH agonists (like Lupron) can reduce the size of the fibroids (they suppress the secretion of estrogen), however when the treatment is discontinued, the fibroids return. Low dose oral contraceptives can also be used to help control the growth of the fibroid.
Hyperprolactinemia is the excessive production of the hormone prolactin (the hormone responsible for milk production). An excess of prolactin can suppress ovulation and can be symptomatic of hypothyroidism (when the body lacks thyroid hormone) or luteal phase defects.
In women, symptoms of this condition include galactorrhea (the production of breast milk by non-nursing women) and anovulation (when a woman does not ovulate)
Hyperprolactinemia can be caused by several factors such as:
- Tumors on the pituitary gland (called prolactinomas)
- Thyroid gland disorder
- Surgical scars on the chest wall and other chest wall irritations (such as shingles)
- Medications including some tranquilizers, high blood pressure medications, and antinausea drugs, oral contraceptives and recreational drugs (such as marijuana)
A blood test can detect elevated prolactin levels. An MRI of the head may be warranted to rule out a pituitary tumor, especially if you are experiencing symptoms such as blurred vision.
Both drug and surgical methods are used to treat hyperprolactinemia:
- Bromocriptine is used to reduce excessive prolactin levels
- Clomiphene is used to induce ovulation
- Surgery is used to remove tumors (a more risky procedure)
Immunological infertility occurs most often in men. The male immune system can react to its own sperm as if they were invading cells and can be caused by an infection, cancer or a vasectomy. The immune system attacks the sperm and significantly impedes sperm motility.
If the cause of the immunological infertility is female related the current theories are that cervical mucus can kill sperm or the uterus can reject the embryo. However, both theories are unproven.
Although there may not be obvious signs of infection, an old infection that was not successfully treated could still be present in the body.
The cause of immunological infertility is still unproven.
Treatment for this disorder ranges from drug therapy to assisted reproduction:
- Steroids: Cortisone, Prednisone, Dexamethasone can reduce the body's immune system response
- Antibiotics: Antibiotics are used when it is believed the condition is a result of a bacterial infection
- Assisted reproductive technologies: Intrauterine insemination (IUI), intratubal insemination (ITI) or in vitro fertilization (IVF) used in more extreme cases
Luteal Phase Defect (LPD)
The luteal phase is the time between ovulation and the start of the next menstrual cycle. If a woman has a luteal phase defect, her body does not have enough time between ovulation (when mature eggs are released) and menstruation to build up the lining of the uterus, because the woman does not produce a sufficient amount of progesterone to allow a fertilized egg to implant. This is a broad diagnosis that can mean many things.
Basal body temperature (BBT) readings can be helpful when a luteal phase defect is suspected. Endometrial biopsies can also diagnose this. If ovulation is documented and the next period comes less than 14 days later, then a luteal phase defect may be the cause, however it is an easy condition to misdiagnose.
LPD is caused by hormonal imbalances, specifically when secretion of the hormone progesterone is disrupted. Progesterone helps thicken the lining of the uterus in preparation for a fertilized egg to implant. When progesterone levels are insufficient, chances of conception are greatly reduced.
Several treatments are currently used to treat LPD:
- Ovulation-inducing drugs
- Progesterone suppositories
- In vitro fertilization (IVF)
Occlusion is the medical term used for any blockage in a woman or manâ€™s system. In women, fallopian tube blockages (also called tubal blockages) are most common. In men, a blockage in the duct system (the epididymis or the vas deferens) may prevent sperm from reaching the ejaculate.
This condition is diagnosed in women by hysterosalpingogram, hysteroscopy or laparoscopy.
For women, causes include:
- Pelvic inflammatory disease (PID)
- Scar tissue from abdominal surgery
- Congenital conditions
- Sexually transmitted diseases (STDs)
For men, causes include:
- Scar tissue from abdominal surgery
- Congenital conditions
- Sexually transmitted diseases (STDs)
- Vasectomies (most common)
For women with blockages in both tubes, laparoscopy, hysteroscopy and assessment with or without salpingolysis or salpingostomy are appropriate treatments. If only one tube is blocked, healthcare providers may simply prescribe ovulation inducing drugs.
If none of these treatments work, in vitro fertilization (IVF) is the only treatment option. IVF bypasses the tubes, and thus the blockage. It is important to note that removing the blockages does not always solve the fertility problems and women who have blockages removed may still need IVF.
For men the treatment option available is called a vasovasostomy or reversal of vasectomy, a procedure in which the healthcare provider stitches the inner and outer layers of the vas deferens together. The procedure restores continuity to the vas deferens to restore sperm in the ejaculate. Success of the procedure depends on a number of factors and should be discussed with an urologist or other healthcare professional. It is expensive, takes time and has a lower level of success compared with IVF. In Australia there is no Medicare support for reversal of vasectomy. There are Medicare rebates for IVF and testicular sperm retrieval.
If the couples do not want surgery or they are not candidates, a testicular biopsy can be performed to remove sperm from the testes. Since the number of sperm recovered varies greatly, the couples will most likely need to proceed with IVF and ICSI.
Pelvic Inflammatory Disease (PID)
Pelvic inflammatory disease (PID) is a condition in which the upper reproductive organs in a woman become infected. The disease can affect the lining of the uterus, ovaries and fallopian tubes.
Several symptoms are associated with PID:
- Excessive bleeding
Older types of intrauterine devices (IUDs) (birth control devices) have been associated with pelvic inflammatory disease, fallopian tube scarring, and uterine damage in many of the women who used them. This may be caused by the introduction of bacteria into the uterus when the IUD is inserted. Sexually transmitted diseases (STDs) have also been linked to PID. Chlamydia can do permanent damage if left untreated and can lead to PID.
Antibiotic therapy is the preferred treatment for PID. Depending upon the extent of the disease, some of the scar tissue (adhesions) may be removed by laparoscopy or laparotomy. If the uterus has been affected, a hysteroscopy may be performed to correct the damage. If the damage is extensive and the uterus cannot be repaired the woman may need a host uterus, also known as a gestational carrier.
Polycystic Ovarian Syndrome (PCOS)
Polycystic ovarian syndrome (PCOS) is a condition in which the ovaries secrete abnormally high amounts of androgens (male hormones) that often cause problems with ovulation. Women with PCOS have enlarged ovaries which contain multiple, small cysts. PCOS is also called Stein-Leventhal syndrome.
PCOS can be completely asymptomatic. However, more often, the following symptoms are associated with PCOS:
- Weight gain or obesity
- Excessive hair and/or abnormal hair growth patterns
- Irregular periods or complete absence of menstruation (amenorrhea)
- Oily skin
- Enlarged ovaries
PCOS is caused by the excessive secretion of androgens (a male sex hormone). Many healthcare providers consider PCOS to be a persistent lack of ovulation (anovulation).
Treatment depends on the severity of the condition. Recent studies have shown insulin to be a factor in many women with PCOS. In mild cases, the healthcare provider may suggest a reduced fat and carbohydrate diet, along with aerobic exercise. If the PCOS is severe healthcare providers will prescribe drug therapies. Ovulation induction drugs can help the ovaries to release eggs. Insulin-regulating drugs such as metformin may correct ovulatory problems. Some severe cases require surgery. The outer layer of the ovary can become thickened and may interfere with ovulation. Laser ovarian drilling is a surgical method that yields the same results as a wedge resection. Laparoscopic ovarian drilling may help thin the outer layer in places.
Premature Ovarian Failure (POF)
Premature ovarian failure (POF) is also called early menopause. This term refers to a condition where the ovary stops ovulating earlier than is normal. The average age range for menopause is between 45 and 55. Women under 40 who permanently stop ovulating regularly are considered prematurely menopausal.
Women may experience symptoms of menopause, or may be asymptomatic. Menstrual cycles may change in quantity, duration or regularity or may stop completely. This condition may be inaccurately cited as the cause of ovulatory disorders in women who are in their later childbearing years.
In up to 50% of POF cases the cause is unknown. In the remaining 50% the cause may be one of the following:
- Genetics (missing part of an X chromosome, extra X chromosome)
- Autoimmune disorders
- Cancer treatments (radiation therapy or chemotherapy)
Once a woman becomes menopausal and no longer ovulates, she cannot use her own eggs. However, in vitro fertilization (IVF) with donor eggs can be done using her partner's sperm to produce embryos.
Uterine/Vaginal Birth Defects
These particular defects are also referred to as mullerian anomalies. A birth defect of the vagina and uterus can impair a womanâ€™s ability to get pregnant, or to carry a pregnancy to term. Mullerian anomalies can range from a bicornuate uterus to the absence of a uterus and cervix.
An evaluation of the reproductive system can help determine if any of the above defects are present. Physicians have several tests they can use to diagnose these conditions, such as a hysterosalpingogram, laparoscopy, and hysteroscopy.
The particular defects described here could be genetic or drug-induced. In the 1950s, diethylstilbestrol (DES) was prescribed to prevent miscarriages. Unfortunately, the daughters of many women who took DES were born with these uterine defects.
Both surgery and assisted reproductive technology are options for these defects. The most common surgery is hysteroscopy to resect a uterine septum.