An infertility diagnosis can be very confronting, and difficult to come to terms with, but it is an important milestone. Your diagnosis means that you can begin the journey to resolving your infertility, regardless of whether the cause is male-related or female-related. This journey is best taken as a couple.
Infertility can be exhausting – dealing with the diagnosis, the emotional rollercoaster, adapting to new healthcare providers and new terminology, attending treatments, absorbing masses of new information – as a couple, you will become proficient in the new language of fertility.
Most couples want to know as much as possible about their diagnosis, and this knowledge may help restore a sense of control to your life, allowing you to make better, and more well-informed decisions as you enter into the treatment phase.
However, do realise that understanding the causes of infertility may take a little research. The information in this section can be a valuable resource, but is not exhaustive. It details the most common diagnoses for female infertility, including their symptoms, causes and how they are typically treated.
Common Diagnoses for Female Infertility
Amenorrhea is the medical term for the absence of menstruation. Investigation is always warranted for women who have stopped having periods, as it usually indicates a defect somewhere in the reproductive tract.
The symptoms of amenorrhoea may be associated with other problems:
- A missed period,
- Abnormal hair growth,
- Milk production in the absence of pregnancy, and
- Trouble with balance, coordination or vision.
Amenorrhea may also be a symptom of another infertility condition called Anovulation.
There are several factors that may cause Amenorrhea including the following. These will all be covered in this section.
- Polycystic Ovarian Syndrome (PCOS), which is the most common cause;
- Hyperprolactinemia (i.e., the production of excess prolactin, a hormone that controls certain functions, such as milk production);
- Mullerian Anomalies (i.e., congenital developmental abnormalities of the uterus and/or cervix);
- Decreased secretion by the hypothalamus or pituitary glands of the hormones required for menstruation; and/or
- A blockage of the cervix.
The treatments for amenorrhoea depend largely upon the cause and diagnosis. If the amenorrhea is a result of hormonal issues (including Hyperprolactinemia), there are a number of hormonal and non-hormonal treatment options available.
Anovulation is the medical term for the absence of ovulation (i.e., the release of mature eggs from a woman’s ovary). It can occur as a result of several factors including hormonal imbalances, age and early menopause.
Anovulation is a condition that can occur without any symptoms at all. The most common symptom is an extended menstrual cycle. Amenorrhea (as previously discussed, is the absence of menstruation), as well as inconsistent Basal Body Temperature (BBT) may signal anovulation.
Treatments for anovulation range from therapy with medications, through to more invasive surgical procedures. Treatment varies depending on the infertility diagnoses. Some examples of anovulation treatments are ovulation-inducing drugs, In Vitro Fertilisation (IVF), ovarian wedge resection and laparoscopic ovarian drilling.
During a normal menstrual cycle, the lining of the uterus (i.e., the endometrium) is shed when fertilisation of an egg, and implantation of an embryo does not occur. The endometrial tissue passes through the cervix and outside the body in the form of menstrual bleeding (i.e., a period). Endometriosis is a condition resulting from the appearance of endometrial tissue outside the uterus, causing pelvic pain, especially associated with menstruation. Endometriosis can cause a distortion of the anatomy, blocking the fallopian tubes and prevent the sperm from reaching and fertilising the egg. It has also been suggested that Endometriosis secretes toxins that can reduce fertility.
The symptoms of endometriosis may include painful intercourse and painful, heavy periods, although some cases of endometriosis are totally asymptomatic.
A procedure called a laparoscopy, carried out as day surgery, can confirm and treat the diagnosis of endometriosis.
The causes of endometriosis are not entirely clear, but a leading theory is “retrograde menstruation”. The theory hypothesises that a backward flow of menstrual bleeding through the fallopian tubes and into the pelvis causes the endometrial cells to implant on the ovaries, uterus and other non-reproductive abdominal organs. Researchers have also suggested 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:
The least invasive treatment uses medication to suppress the secretion of hormones from the pituitary gland. You cannot get pregnant while taking these drugs.
Procedures such as laparoscopy or laparotomy can surgically remove endometrial implants or adhesions (i.e., scarring). After surgery, your specialist may prescribe a medication to enhance or induce ovulation, increasing the chances of conception.
Assisted Reproductive Technology (ART)
In Vitro Fertilisation (IVF) is recommended when the fallopian tubes have been damaged. However, you need to be aware that the chances of conceiving decrease with the increasing severity of the Endometriosis.
Fibroids are benign (i.e., non-cancerous) tumours often found in the uterus or cervix. Uterine Fibroids are found in one out of every four to five women in their 30s and 40s. They can cause blockages of the fallopian tubes, implantation issues for an embryo, as well as miscarriage. The overall impact that fibroids have on fertility depends upon their size and location.
Painful and heavy periods are the most common symptoms associated with fibroids and are present in up to half of the women with this condition. Other symptoms may include pressure or pelvic pain and the sensation of a mass. Tools such as pelvic ultrasound, hysterosalpingography, hysteroscopy, or laparoscopy can diagnose fibroids.
Excessive oestrogen levels can cause fibroid tumours. Oestrogen is a female hormone that helps regulate the menstrual cycle and has been known to stimulate the growth of fibroids.
Surgical treatments to diagnose and physically remove fibroids include hysteroscopy, laparoscopy and myomectomy. There are also some medications that suppress the secretion of oestrogen, which may be helpful to reduce the size of the fibroids. However, when the medication is discontinued, the fibroids return. Low dose oral contraceptives can also be used to help control the growth of the fibroid.
Hyperprolactinaemia is the excessive production of the hormone responsible for milk production, called prolactin. Too much prolactin (i.e., hyperprolactinaemia) can suppress ovulation and be symptomatic of hypothyroidism (i.e., when the body underproduces thyroid hormones), as well as Luteal Phase Defects (LPD). If you have LPD, the lining of your uterus does not grow properly each month, making it difficult to become or remain pregnant.
In women, symptoms of hyperprolactinaemia include galactorrhoea (i.e., the production of breast milk by non-nursing women) and anovulation (i.e., when a woman does not ovulate).
Hyperprolactinaemia can be caused by several factors, including:
- The presence of a prolactinoma (i.e., a tumour on the pituitary gland);
- Thyroid gland disorder;
- The presence of surgical scars or adhesions on the chest wall;
- Other chest wall irritations (e.g., shingles)
- Some prescriptions medications (including oral contraceptives, tranquilisers, antipsychotics, high blood pressure medications, and anti-nausea drugs);
- Recreational drugs (such as marijuana)
A simple blood test can detect elevated prolactin levels, although further investigation may be required to rule out a pituitary tumour, especially if you are experiencing other symptoms.
Hyperprolactinaemia responds to both drug and surgical treatments, to physically remove tumours, as well as to reduce excessive circulating prolactin levels. Ovulation induction treatment may be undertaken after all investigations and treatment have been concluded.
Immunological Infertility occurs more commonly in men, as the immune system can react to its own sperm as if they were a foreign threat. However, if the cause of the immunological infertility is female-related, there are 2 possible issues. Please bear in mind that this information has not been scientifically verified, and these are current immunological theories:
- the cervical mucus can kill sperm, or
- the uterus can reject the embryo.
Although there may not be obvious signs of infection, an old infection that was not successfully treated could still be present in the body. For a diagnosis of immunological infertility, this may be the only obvious symptom.
Treatment for this disorder ranges from medication to Assisted Reproduction (ART):
- Steroids can reduce the body’s immune system response;
- Antibiotics are used when it is believed the condition is a result of a bacterial infection; and
- Assisted Reproductive Technologies (ART) such as Intra-Uterine Insemination (IUI) or In Vitro Fertilisation (IVF) in more severe cases.
Luteal Phase Defect (LPD)
The Luteal Phase is the time between ovulation and menstruation, during which the uterus lining prepares for implantation of the embryo. If a woman has a Luteal Phase Defect (LPD), her body does not produce a sufficient amount of the hormone progesterone to allow the fertilised egg to implant.
It is, however, a broad diagnosis that can mean many things, and it is a difficult condition to diagnose.
Basal Body Temperature (BBT) readings and biopsies of the endometrium (lining of the uterus) can be helpful when LPD is suspected. If ovulation is documented and the next period comes less than 14 days later, then a Luteal Phase Defect may be the cause.
LPD is caused by hormonal imbalances, specifically when secretion of the hormone progesterone is disrupted. Progesterone helps to thicken the endometrium during the luteal phase, so when progesterone levels are insufficient, the chances of conception are greatly reduced.
Several treatments are currently used to treat LPD, including ovulation-inducing medication, hormone replacement in the form of progesterone pessaries, and In Vitro Fertilisation (IVF).
Occlusion is a medical term for any blockage in a woman or man’s reproductive system.
In women, fallopian tube blockages (also called tubal blockages) are the most common, while in men, blockages in the epididymis or the vas deferens are common.
This condition is diagnosed in women with day surgery procedures, such as hysterosalpingogram, hysteroscopy or laparoscopy.
For women, the causes of occlusions may include:
- Pelvic Inflammatory Disease (PID);
- Scar tissue from abdominal surgery;
- Congenital conditions;
- Sexually Transmitted Diseases (STDs); and
For men, causes may include:
- Scar tissue from abdominal surgery;
- Congenital conditions;
- Sexually Transmitted Diseases (STDs);
- Hernias; and
- Vasectomies (most common).
For women with blockages in both tubes, laparoscopy, hysteroscopy and assessment with or without salpingolysis or salpingostomy are appropriate surgical treatments. If only one tube is blocked, your specialist may prescribe ovulation-inducing drugs to enhance your chances of conception.
If these treatments fail, In Vitro Fertilisation (IVF) is the next option. As IVF bypasses the fallopian tubes, it also bypasses the blockage.
However, removing the blockages does not always resolve fertility issues, and women who have blockages removed may still need IVF.
For men, the only treatment option available is called a Vasovasotomy (i.e., a reversal of vasectomy), during which the inner and outer layers of the vas deferens are stitched together. The procedure attempts to restore continuity in the vas deferens to return sperm to the ejaculate. Success of the procedure depends on a number of factors and you should discuss this option in depth with a specialist prior to proceeding. It is expensive, time consuming, and is often less successful than IVF. Intracytoplasmic Sperm Injection (ICSI) is an ideal IVF procedure for many couples with this diagnosis.
Pelvic Inflammatory Disease (PID)
Pelvic Inflammatory Disease (PID) is a condition in which the upper reproductive tract of a female becomes infected, affecting the endometrium (i.e., the lining of the uterus), ovaries and fallopian tubes.
There are several symptoms are associated with PID, including excessive bleeding, pain, cramps and fever.
PID arises from the introduction of bacteria into the reproductive tract. Older types of Intrauterine Devices (IUDs) for birth control have been associated with PID, fallopian tube scarring, and uterine damage in many women. In addition, Sexually Transmitted Diseases (STDs) have also been linked to PID. Chlamydia, for example, can do permanent damage when left untreated.
Antibiotic therapy is the preferred treatment for PID, depending upon the extent of the disease. In more severe cases, surgical removal of the scar tissue by laparoscopy or laparotomy is preferred. If the uterus is affected, a hysteroscopic procedure may be performed to correct the damage. If the damage is extensive, the uterus cannot be repaired; surrogacy (i.e. the use of a host uterus) or adoption may be another option.
Polycystic Ovarian Syndrome (PCOS)
Also called Stein-Leventhal Syndrome, Polycystic Ovarian Syndrome (PCOS) is a condition in which the ovaries secrete abnormally high amounts of androgens (which are male hormones) that interfere with ovulation. Women with PCOS have enlarged ovaries which contain multiple, small cysts.
PCOS can be completely asymptomatic. However some common symptoms are:
- Weight gain or obesity;
- Excessive and/or abnormal hair growth;
- Acne and/or oily skin conditions;
- Irregular periods or amenorrhea; and
- Enlarged ovaries (seen on ultrasound).
Treatment of PCOS depends on the severity of the condition. Some recent studies have shown insulin to be a factor in many women with PCOS, and so in mild cases, a fat- and carbohydrate-restricted diet, and exercise may help. More severe PCOS requires drug therapies, such as ovulation-induction drugs, or insulin-regulating drugs. Some severe cases require surgery to help thin the outer layer of the ovary to improve ovulation. Ovarian drilling and a wedge resection are both surgical options.
Premature Ovarian Failure (POF)
Premature Ovarian Failure (POF), also called early menopause, refers to the cessation of ovulation prior to age 40. Once a woman becomes menopausal and no longer ovulates, she cannot use her own eggs.
Some women may experience the symptoms of menopause, while others remain asymptomatic. Menstrual cycles may change in quantity, duration or regularity or may stop completely.
In about half of POF cases the cause is unknown. However, some causes may be:
- Some cancer treatments (including both radiation therapy and chemotherapy);
- Genetics (e.g., missing part of an X chromosome, or an extra X chromosome);
- Autoimmune disorders;
- Surgery; or
- Exposure to toxins.
Menopause is final, and therefore ovulation is not possible after a POF diagnosis. Donor eggs may be used with the partner’s sperm during In Vitro Fertilisation (IVF) procedures.
Uterine/Vaginal Birth Defects
A birth defect of the vagina and/or uterus can certainly impair a woman’s ability to get pregnant, or to carry a pregnancy to term. Also termed “Mullerian Anomalies”, these defects can range from a bicornuate uterus (i.e., the uterus has 2 horns and a heart shape) to the absence of a uterus and cervix.
A full evaluation of the reproductive system can help determine if any of the physical defects are present, including a simple internal examination, ultrasound, hysterosalpingogram, laparoscopy, and hysteroscopy.
Some defects described here could be genetic or drug-induced. One high profile example is that of the commonly-prescribed drug diethylstilbestrol (DES) in the 1950s. The daughters of many women who took DES were born with uterine defects and fertility issues.
In terms of treatment, both surgery and Assisted Reproductive Technology (ART) are options for these defects. The most common surgery is hysteroscopy to resect a uterine septum, or to create a uterine cavity.