Polycystic ovary syndrome (PCOS) is the most common hormone abnormality of reproductive-age women, the most common cause of infertility in women and an important harbinger of metabolic disorders such as diabetes and heart disease.
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Polycystic ovary syndrome
1. Polycystic Ovary Syndrome
Polycystic ovary syndrome (PCOS) is the most common hormone abnormality of
reproductive-age women, the most common cause of infertility in women and an
important harbinger of metabolic disorders such as diabetes and heart disease. It
affects an estimated 5 percent to 10 percent of females and is associated with an
increased risk of diabetes and obesity, and possibly an increased risk of strokeand
cardiovascular disease. The syndrome is generally characterized by the presence
of polycystic ovaries, hyperandrogenism (the condition caused by excess male
hormones or male-like traits), and irregular ovulation and menstruation. The
symptoms of PCOS can vary.
The syndrome was previously called Stein-Leventhal Syndrome after the
physicians who first characterized it in the 1930s. Although its cause remains
unknown, it usually presents in young women or adolescents, and the main
symptoms are irregular or absent periods and excess unwanted facial and/or
body hair growth (hirsutism). As the term “polycystic ovary syndrome” suggests,
the disorder is often accompanied by enlarged ovaries containing multiple small
painless benign “cysts” or tiny follicles about 1/8 to ¼ inch in diameter.
During a normal menstrual cycle in which a woman ovulates (called an ovulatory
cycle), a small number of follicles begin to grow. One becomes the biggest,
ordominant, follicle. This dominant follicle then ruptures and releases the egg.
In women with PCOS, the hypothalamic-pituitary (in the brain) functions
abnormally, and high levels of hormones called androgens (commonly known as
“male hormones”) disturb the ovulatory process, halting the normal development
of the sacs, called follicles, that contain each individual egg (or ova). These halted
or arrested follicles––whose appearance (via an ultrasound) is sometimes likened
to a “string of pearls” on the outside border of the ovary––form the “cysts”
observed in PCOS. These cysts are not tumors and do not require removal.
Treatment of PCOS, instead, is through the use of lifestyle modifications and
medication to treat symptoms.
2. Many, but not all, women with PCOS will have the polycystic-looking ovaries
(which are often two to five times larger than normal ovaries) for which the
syndrome is named, but it is possible to be diagnosed with the syndrome without
having this sign. And not all women with polycystic-appearing ovaries will have
PCOS.
Many women with PCOS experience excess insulin production from the pancreas,
which can result from insulin resistance, meaning that their cells don’t respond
well to insulin, so the insulin has difficulty working in their bodies. Hence, higher
levels of insulin are needed to maintain normal glucose and lipid levels. Insulin, a
hormone produced by the pancreas, regulates a range of functions, including
controlling blood sugar (glucose) and fats (lipids).
Insulin resistance can lead to hyperinsulinism or hyperinsulinemia. It is also a
precursor to type 2 diabetes. Furthermore, the high levels of insulin help
stimulate the ovaries to overproduceandrogens, which may be the cause of PCOS
in some women.
In addition to stimulating the ovaries to overproduce androgens, high levels of
insulin can cause darkening of the skin around the neck and other crease areas, a
condition called acanthosis nigricans, often accompanied by skin tags in these
areas.
If the pancreas can’t produce enough insulin to compensate for the insulin
resistance, glucose builds up in the blood, eventually leading to type 2 diabetes.
Up to 75 percent of women with PCOS have insulin resistance and about 10
percent develop type 2 diabetes by age 40. Insulin resistance and an increased
risk of diabetes are major problems for obese women with PCOS, but they also
cause problems for normal weight women with PCOS. For obese women with
PCOS, treatment plans should incorporate diet and exercise.
Obesity in women with PCOS tends to be centered on the abdomen, a fat
distribution pattern linked to increased risk of diabetes, heart disease and high
blood pressure.
3. Up to 50 percent of women with PCOS also have sleep apnea, a condition that
causes brief spells where breathing stops during sleep. Sleep apnea can worsen
the degree of insulin resistance.
The most visible symptoms of PCOS stemfrom excessivelevels of androgens, such
astestosterone, produced by the ovaries and the adrenal glands. Androgens often
are called “male hormones,” even though they are found in both men and
women. They are usually present at higher concentrations in men and are an
important factor in determining male traits and reproductive activity. Androgens,
or androgen precursors, include testosterone, dihydrotestosterone (DHT),
androstenedione, dehydroepiandrosterone (DHEA) or DHEA sulfate (DHEA-S).
Excessive levels of these hormones, a condition called hyperandrogenemia, or
their exaggerated action, called hyperandrogenism can lead to some of the most
common symptoms of PCOS in women, including:
ď‚· Excess body or facial hair (hirsutism)
ď‚· Oily skin and acne
ď‚· Oligo-ovulation (irregular ovulation and menstruation)
ď‚· Scalp hair loss and balding (male pattern balding and androgenic alopecia)
But such symptoms alone are not enough to support a diagnosis of PCOS. They
may only indicate the presence of hyperandrogenism, which can result from
several conditions.
Women with PCOS ovulate irregularly and/or infrequently and often have
irregular menstrual periods. Inducing a period is important because the hormone
progesteronepromotes the normal shedding of the uterine lining (i.e.,
menstruation), preventing the buildup of the uterine lining, and reducing the risk
of endometrial (uterine) cancer. However, progesteroneis secreted by the ovaries
only after ovulation occurs, so progesterone may need to be administrated to
women with PCOS either alone regularly or as part of a combination hormonal
contraceptive.
PCOS often is a cause of infertility due to a failure to ovulate.
4. Women with PCOS are more likely to be overweight or obese, although the exact
relationship of PCOS and body weight is unknown. Excess weight worsens PCOS,
but researchers do not yet know whether or not having PCOS makes patients
more prone to obesity.
It is not surprising that women with PCOS often suffer from poor self image and
may experience depression or anxiety.
While the biochemical imbalances that cause symptoms are becoming better
understood, the trigger or triggers for PCOS remain unknown. Most believe PCOS
results from genetic defects, often in combination with environmental factors.
Genetic defects may result in abnormal function of the hormones from the
pituitary that regulate ovulation (LH and FSH), in abnormal development of the
follicle, in increased production of male hormones (androgens), and in insulin
resistance and excessive production of insulin. All these prevent the ovaries from
functioning normally.
Because PCOS is mostly a genetic disorder, the risk of PCOS in family members is
high. For example, an estimated 30 percent of mothers, and 50 percent of sisters
and daughters of people with PCOS can be affected.
To date there is no cure for PCOS. Health care professionals can usually address
the most bothersome symptoms. Because of the complexity of the hormonal
interactions, you may need to see an endocrinologist. You may also need to visit a
reproductive endocrinologist, especially if you are infertile and trying to conceive.
Not all physicians haveexperience treating PCOS, so check with the doctor’s office
to see if that doctor cares for many people with PCOS.
Diagnosis
Diagnosis begins with an inventory of signs and symptoms, the most common of
which are:
ď‚· Unwanted hair growth or hirsutism (excess body and/or facial hair in a
male-like pattern, particularly on the chin, upper lip, breasts, inner thighs
and abdomen)
5. ď‚· Irregular or infrequent periods
ď‚· Obesity, primarily around the abdomen (although only about 30 percent to
60 percent of patients are obese)
ď‚· Acne and/or oily skin (particularly severe acne in teenagers or acne that
persists into adulthood)
ď‚· Infertility
ď‚· Ovarian appearance suggesting polycystic ovaries
ď‚· Hair loss or balding
Acanthosis nigricans (darkening of the skin, usually on the neck; also a sign of
insulin problems), often with skin tags (small tags of excess skin), most often seen
in the armpit or neck area
Women with PCOS may have varying combinations of these and other signs and
symptoms, but three important features of the disorder include the following:
Hyperandrogenism (signs of male-like traits, such as hirsutism) and/or
hyperandrogenemia (excess blood levels of androgens). Androgens are hormones
such as testosterone that in excess quantities cause such symptoms as hirsutism
and acne. In more severe cases, “virilization”––taking on significant male
characteristics, including severe excess facial and body hair, an enlarged clitoris,
baldness at the temples, acne, deepening of the voice, increased muscularity and
an increased sex drive––may occur. However, virilization is more frequently a sign
of an androgen-producing tumor, which should be searched for.
Lack of ovulation or irregular ovulation often resulting in irregular or absent
menstruation. Women with PCOS usually have oligomenorrhea (eight or fewer
periods per year) or amenorrhea (absence of periods for extended periods).
Polycystic ovaries on ultrasound
Expert groups have determined that a woman must exhibit at least two of these
three symptoms to be diagnosed with PCOS.
The diagnostic process should include a thorough physical examination and
history to check for signs and symptoms of other disorders that can have similar
6. signs and symptoms, such as hypothyroidism, Cushing’s syndrome (a hormonal
disorder in which the adrenal glands malfunction), adrenal hyperplasia (a genetic
condition that results in male hormone excess produced by the adrenal glands),
and androgen-secreting tumors (of the ovary, adrenal gland, etc.).
While there is no single test for PCOS, a health care professional may measure
blood levels of the following:
Thyroid hormone (symptoms of low thyroid function, or hypothyroidism, include
irregular menstruation, similar to that of PCOS)
Prolactin (high levels of this hormone, which stimulates milk production, often
results in irregular or absent menses similar to that seen in PCOS)
Level of 17-hydroxyprogesterone, a marker for the most common cause of
adrenal hyperplasia (due to 21-hydroxylase deficiency). If the screening level is
high, your doctor may choose to perform an adrenal stimulation test.
Androgen levels, including total and free testosterone and
dehydroepiandrosterone sulfate (DHEAS). Androgen-producing tumors, although
they are rare, can result in some of the masculinizing symptoms of PCOS. If your
testosterone level is persistently very high, your health care professional may
want to investigate further.
Follicle-stimulating hormone (FSH) and luteinizing hormone (LH) levels. FSH
promotes the development of egg-containing follicles in the ovaries, while LH
stimulates ovulation as well as follicle rupture and encourages the empty follicle
to convert to progesteroneproduction. A high ratio of LH to FSH (greater than 2:1
or 3:1) may be characteristic of PCOS, although women with PCOS can also have
normal FSH and LH levels and a normal ratio, so FSH and LH testing is not always
useful in diagnosing PCOS.
A two-hour glucose tolerance test. This test, where your blood is drawn before
you drink a sugary solution and again one and two hours afterward, should be
performed in all women diagnosed with PCOS, because diabetes or prediabetes is
hard to detect in many women with PCOS without this test.
7. Physicians may also order tests to measure blood fat (lipid) and cholesterol levels.
These tests should be interpreted carefully by a specialist. The best time to be
tested is in the morning just after your menstrual period begins (you may need
medication to induce menstruation). Birth control pills might make the tests
difficult to interpret because they change the hormonal balance and may mask
any abnormalities that may exist in male hormones.
Your health care professionalmay order ultrasound imaging of the ovaries to look
for the characteristic picture of multiple cysts. An ultrasound may also be used to
look for abnormalities in the lining of the uterus, called the endometrium.
The ultrasound test usually involves insertion of a probe into the vagina, although
a transabdominal ultrasound, in which the ultrasound is passed over your
abdomen, can be performed, particularly in women who have never been
sexually active.
PCOS is also associated with an increased risk of diabetes and obesity, and as a
result, an increased risk of cardiovascular disease. If you have PCOS, you should
be tested and treated for insulin resistance, type 2 diabetes, high blood pressure
and elevated blood lipids (cholesterol and triglycerides). Women with PCOS who
become pregnant should be advised that they are at increased risk of developing
gestational diabetes.
Treatment
Treatment of polycystic ovarian syndrome (PCOS) centers on lifestyle
modifications and medication. Surgical procedures to destroy or shrink the
ovarian cysts are less likely to be performed today given the success of hormonal
treatments. However, if you fail to ovulate with conventional treatment (the
fertility drug clomiphene citrate (Clomid)) and can’t, for whatever reason,
proceed to gonadotropin shots or in vitro fertilization (IVF), your doctor may
recommend an outpatient surgery called laparoscopic ovarian drilling.
8. Because the primary cause of PCOS is unknown, treatment is directed at the
primary symptoms of the disorder, which include excess hair growth, irregular
periods and infertility.
Excess hair growth
For some women, the most bothersome symptom is hirsutism (excess facial
and/or body hair, often dark and coarse). This symptom, as well as acne and oily
skin, stem from the overproduction of androgens. For women with these
symptoms, an anti-androgen medication like spironolactone, finasteride or
flutamide may be prescribed.
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