- Female Infertility
Infertility is the inability to become pregnant after a defined period of time of unprotected sexual intercourse. For women ages 35 years and younger, the defined time period is considered to be approximately one year. Women over 35 years of age are advised to seek evaluation and .treatment after a six month period, as fertility declines markedly after 37 years of age. The incidence of infertility increases as the female age.
Twenty five percent of fertile patients will conceive during one month of unprotected intercourse. Sixty percent will conceive after six months, and 85 percent will conceive after one year. These conception rates are averages and will vary between patients.
Infertility is divided into two categories. Primary infertility refers to a patient who has had no prior pregnancies. Secondary infertility refers to a patient who has had prior pregnancies. Primary infertility occurs in about 1 of 12 patients.
Infertility is a complex disease and is often due to numerous factors. A woman who suspects she is infertile must have a thorough evaluation by a specialist. The first office visit may consist of a history and physical. The doctor will ask questions regarding frequency of intercourse, regularity of periods, general health, etc. Patients will also be asked about any pelvic infections, endometriosis, surgeries, ectopic pregnancies, or social habits (such as smoking) that may negatively affect fertility.
- Male Infertility
Approximately 15% of couples have difficulty achieving a pregnancy during their reproductive years. Couples are considered infertile if they have been unable to conceive a baby after a year of regular intercourse without contraception. Infertility may be the result of reproductive problems in the man (about 40 percent of cases), woman (40 percent of cases) or both (20 percent of cases).
It is very important that the male partner be evaluated during the initial work up. A history of genital infections, trauma, or environmental exposure to toxins, can reduce male fertility. Disorders of the endocrine system (hypothalmus, pituitary), structural dysfunction (such as obstruction of the vas deferens), or numerous other conditions can cause male infertility. In addition, the male may experience sexual dysfunction and/or retrograde ejaculation. Because fertility depends on the ability to produce sperm, a semen analysis is conducted. The analysis looks at the amount and concentration of sperm and the presence of infection or blood.
Advances in infertility treatment have greatly increased the chances for infertile men to father children. In most cases, treatment of male infertility does not increase sperm count or improve the quality of the sperm produced in the man’s body. Instead, the sperm that a man produces are extracted, treated in different ways, and used to fertilize an egg. Fertilization can take place either directly in the woman’s body, through artificial insemination (AI), or in a laboratory through a process called in vitro fertilization (IVF).
- Age and Fertility
Female aging is associated with declining fertility. The decline in fertility is correlated with a decline in the number of oocytes (eggs). The maximum number of oocytes is approximately 5-7 million before birth and; decreases to 400,000 at puberty and to 1000 at menopause.
A major contributor to the age-related decline in delivery rates is the enhanced rate of miscarriages. Clinically recognized abortion occurs in 15% of women younger than 30 years, but increases to 53%. in women over 40. Many of the miscarriages are due to chromosomal abnormalities in the eggs, such as Down syndrome. As women age, the risk of having a child with a chromosomal abnormality, such as Down syndrome, also increases. Chromosomal abnormalities in newborns occur in approximately 1/400 women at age 30, 1/200 women at age 35, 1/66 women at age 40 and 1/20 women at age 45.
Experience has demonstrated a decrease in pregnancy rates with IVF when the oocytes are obtained from women of advanced age. Yet when donor oocytes are transferred to older recipients, the pregnancy rates are similar to younger women. The high rate of pregnancy in the older women receiving donated oocytes suggests that the age-related decline is related to the age of the oocyte. Other factors may also affect fertility, such as uterine fibroids, endometriosis, and endometrial polyps which may progress with age.
Evaluation of Ovarian Aging
In the years immediately preceding menopause, there is a period of shorter menstrual cycles and increased serum FSH. The increasing serum FSH reflects declining hormone production by the ovary. An elevated cycle day 3 serum FSH level is suggestive of poor pregnancy potential and an increased risk of miscarriage. The level of FSH varies with the laboratory and values for each particular laboratory should be correlated with pregnancy rates. Although the cycle day 3 serum FSH level also varies from cycle to cycle, the predictive value of pregnancy correlates with the highest serum FSH value.
The clomiphene challenge test is another assessment of ovarian reserve. Clomiphene citrate is administered in a dose of 100 mg/day on days 5-9 of the cycle. Serum follicle-stimulating hormone and E2 levels are performed on cycle days 3 and 10. Both an elevated cycle day 3 serum FSH level and maternal age are independent predictors of successful pregnancy.
Ultrasound may also be used to evaluate ovarian aging. Both the size of the ovaries and the number of antral follicles (egg sacs) decline with age. The number of antral follicles decreases by 60% between the ages of 22 and 42 in normal women.
- Premature Menopause
Premature menopause, also known as premature ovarian failure (POF), occurs when ovarian function ceases in women under the age of 40 years. Women may have infrequent periods or stop having periods altogether, or experience symptoms of menopause such as hot flashes, irritability and vaginal dryness due to low estrogen levels. In some women, the only symptom may be an inability to conceive. Blood tests may reveal elevated levels of follicle stimulating hormone (FSH), a hormone released from the brain to stimulate the ovaries, and low estrogen levels. In some cases, POF may be intermittent, however, it is not possible to predict when, and in which women, intermittent recovery will occur.
In the majority of women with POF, the cause remains unknown. Some causes for POF or early menopause include autoimmune disorders and genetic abnormalities. Radiation and chemotherapy for treatment of cancer often causes premature menopause that is not always reversible. About 4 percent of women with early menopause have a family history of POF. Women experiencing early menopause have a very slim chance of conceiving with their own eggs. Due to low estrogen levels, women with POF also are at risk for bone loss and osteoporosis.
Women with POF due to an autoimmune cause are also at risk of developing other endocrine problems, such as hypothyroidism (under-active thyroid), diabetes and adrenal failure. They may also be at an increased risk for lupus and arthritis. Testing to exclude a chromosomal abnormality as a cause for POF should be performed in some women, particularly those with symptoms of menopause under 30 years of age.
Hormonal supplements can be used to treat the symptoms associated with premature menopause and for long-term benefits such as prevention of osteoporosis, heart disease, sleep disorders, depression, sexual dysfunction and dementia. In younger women who do not smoke and who are not at increased risk for blood clots, combined oral contraceptives (birth control pills) are often the treatment of choice to affect hormone replacement therapy. There are several other hormone formulations available for those who cannot, or prefer not to, take the birth control pill.
For women who desire conception, the likelihood of becoming pregnant and delivering a baby using assisted reproductive technology and donor eggs is approximately 50 percent. Egg freezing techniques are experimental at the present time, but may be an option in the future for those undergoing chemotherapy and radiation treatments, or for those with a family history of POF.
Hirsutism, excess body hair in women, typically refers to pigmented coarse and dark hairs in a male pattern distribution. The common sites affected are the face, chest and abdomen. Other areas such as the back, arms and legs may be involved in more severe cases. Hair follicles at these sites are sensitive to male hormones (androgens).
Excess hair can result from an increased sensitivity of hair follicles to normal amounts of male hormones, the presence of higher than normal amounts of male hormones such as in polycystic ovary syndrome, adrenal disorders, or androgen-secreting tumors. Women taking hormones such as testosterone or anabolic steroids, and medications such as minoxidil also can have similar symptoms.
Women from certain ethnic backgrounds such as those of Mediterranean, Middle Eastern or Hispanic ancestry, have more sensitive hair follicles, or idiopathic hirsutism. Significant weight gain is sometimes associated with excess body hair due to increased amounts of the male hormones that are not bound to proteins. Weight loss in this situation can improve this symptom. Diabetes and high insulin levels can worsen hirsutism or produce a brown discoloration of the skin, known as acanthosis nigricans, around the neck, under the arms, and along the folds of the upper thighs.
Evaluation involves tests to assess male hormone levels in the blood. Additional tests may be necessary to determine the site of production of excess hormones and exclude other more serious medical conditions. Before considering appropriate treatment options, it is important that an accurate diagnosis is made.
There are medical and non-medical methods to treat excess body hair. Medical treatment includes the use of birth control pills or anti-androgens that reduce and block the action of androgens. These agents only prevent the formation of new hairs and progression of existing hirsutism; they do not eradicate already existing hair. Pregnant women or those who are trying to become pregnant should not take these medications. Existing hair can be addressed by non-medical or cosmetic methods such as shaving, depilators, bleaching, plucking, waxing, electrolysis and laser hair removal - the last two being the most effective techniques.
Amenorrhea is defined as the absence of menstruation. While completely normal before puberty, during pregnancy, and after menopause, amenorrhea at other times can indicate a problem.
There are two types of amenorrhea, primary and secondary. Primary amenorrhea is when a woman reaches the age of 16 and has never had a menstrual period. When a woman who has previously had normal menstrual periods ceases to menstruate for three months or more, she is experiencing secondary amenorrhea.
Primary amenorrhea may be due to chromosomal disorders, birth defects affecting the reproductive organs, hormonal disorders, tumors, chronic illnesses, excessive exercise, stress, and food restrictions.
Secondary amenorrhea can be caused by problems with the pituitary, thyroid, and adrenal glands, ovary, tumors, stress, excessive exercise, weight loss, or illness. The most common cause of secondary amenorrhea is functional - due to a combination of malnutrition, excess energy expenditure and psychological stress.
Treatments for amenorrhea, whether primary or secondary, vary depending on the cause and may include testing the pituitary gland, surgical removal of cysts, or hormonal treatment.
Endometriosis is a disease in which the endometrial tissue that makes up the lining of the uterus grows outside of the uterus. When this tissue implants and grows in the abdomen, it can cause cysts and scarring in the places where it is growing. It can bleed and cause pain, especially during a woman’s period. Endometriosis can damage the ovaries, fallopian tubes, and even the bladder and bowel.
Endometriosis is associated with infertility. This may be because of the damage to the reproductive organs, but it also may be associated with problems inside the uterus that make it more difficult for an embryo to implant and grow there.
Although endometriosis is often seen in women between the ages of 25 and 44, it can also occur in teenagers. Teenagers that have severe pain with their periods should be evaluated for endometriosis. While doctors do not know exactly why this misplaced tissue growth occurs, they do know that a woman whose mother or sister suffers from endometriosis is more likely to have the disease.
Treatment options vary based on the severity of the disease, the age of the woman, and her reproductive plans. Medications can be given to suppress menses and reduce the long-term damage from endometriosis. Surgery is sometimes necessary to verify the diagnosis, remove the endometrial implants, repair damage to organs, and reduce the pain from endometriosis. Sometimes medical treatments or surgery are used to improve a patient’s response to infertility therapies.When the pain from endometriosis is severe, women who do not wish to have more children may opt for a hysterectomy. However, less invasive treatments such as ovarian suppression with continuous oral contraceptives or other hormone therapies are often successful in reducing the pain. Careful evaluation for other causes of pelvic pain is also important. Many women with endometriosis also suffer from irritable bowel syndrome, which also can cause pelvic pain similar to that of endometriosis.
- Prolactin Disorders
Prolactin is a hormone secreted by the pituitary gland located in the brain. During pregnancy, itstimulates milk formation. In non-pregnant women, it is normally secreted in small quantities. Excessprolactin production, referred to as hyperprolactinemia, in women who are not pregnant can result inbreast discharge, irregular or absent periods, infrequent or lack of ovulation, and sometimes headachesand visual symptoms. Women with hyperprolactinemia also can have problems conceiving.
Causes for excess prolactin levels include pituitary tumors (adenomas), hypothyroidism (underactivethyroid), and medications such as tranquilizers, some high blood pressure medications, antidepressants,anti-nausea drugs, and oral contraceptives.
Recreational drugs such as marijuana also can result in increased prolactin levels. Prolactin secretionmay increase slightly following a breast examination, exercise, intercourse, nipple stimulation, stress,sleep and certain foods.
One in three women with prolactin excess has no identifiable cause, and about 30 to 40 percent of casesare caused by a benign, noncancerous, pituitary tumor.
The diagnosis of hyperprolactinemia is made by determining blood levels of prolactin. Sometimes asecond test may be necessary. Other hormone levels also may need to be checked such as a thyroidhormone. An MRI or CT scan is useful in determining the presence and the size of a tumor.
Treatment depends on the cause, severity of symptoms, and presence or absence of a tumor. Largertumors require surgical removal. The majority of patients can be treated with oral medications thatsuppress prolactin production. Medication can be discontinued when women become pregnant, althoughsome women may need to remain on medication during pregnancy.
- Birth Defects
Birth defects of the reproductive system are common, occurring in approximately 1 in 400 women. The reproductive system is derived from two tubes (the Müllerian ducts) which fuse in the midline followed by absorption of the central portion. The upper portion forms the fallopian tubes and uterus. The lower portion forms the vagina. Defects in this developmental process may include absence of the structures (Müllerian agenesis) and abnormalities in fusion and absorption.
Birth defects of the uterus can be diagnosed with ultrasound, sonohysterography, MRI or surgery. An x-ray hysterosalpingogram or hysteroscopy may suggest the presence of an abnormality; however, since neither test gives information regarding the outside of the uterus, other tests must be done to confirm the diagnosis.
Müllerian agenesis, or Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, refers to absence of the uterus. It affects one in every 4,000 to 5,000 women. Approximately 15% of women with Müllerian agenesis will have defects of the urinary system and 12% will have abnormalities of the spine. Women with Müllerian agenesis have normal ovaries, normal hormones and may achieve a pregnancy with a gestational carrier. To achieve a pregnancy the woman with Müllerian agenesis undergoes IVF to retrieve the eggs, which are fertilized and transferred to a gestational carrier.
Women with Mullerian agenesis will have a very small, or absent, vagina. Several techniques have been described in order to enlarge, or create, the vagina. Two of the common techniques include dilation and surgery. Both the Frank and Ingram techniques use a series of dilators increasing in size. Alternatively, a type of skin graft known as the McIndoe procedure is used to create a vagina.
The septate uterus contains a ridge of tissue that protrudes into the uterine cavity. In a septate uterus the inside is the shape of a heart rather than the normal triangle. The outside of the uterus appears normal. This occurs in approximately 1 in 400 women and is a common cause of miscarriage.
The treatment of a septate uterus is usually an outpatient hysteroscopic surgery in which the septum is cut with a scissor through a hysteroscope (a small scope passed through the vagina into the uterus). The use of ultrasound at the time of surgery may help lead to a more complete surgery and is particularly useful in complicated cases.
A bicornuate uterus is heart shaped on the inside and on the outside. Surgical correction of a bicornuate uterus is rarely required.
A didelphic, or double uterus results from failure of the two Müllerian ducts to fuse. There is often a double cervix and double vagina. Surgical correction is not usually required.
A unicornuate uterus occurs when only one of the two Müllerian ducts develops. Surgical correction is not usually required.
Outlet obstruction occurs when an opening anywhere from the cervix to the vagina is blocked. The most common form of obstruction is imperforate hymen. After puberty, menstrual blood becomes trapped behind the blockage. The collection of blood may become larger with each month, leading to a large painful mass in the pelvis or vagina. These defects are corrected surgically and the complexity depends on the type of defect, imperforate hymen being the simplest