Polycystic Ovary Syndrome
Overview
Polycystic ovary syndrome (PCOS) is a set of symptoms due to elevated androgen's[[1]] (male hormones) in females.[4][14] Signs and symptoms of PCOS include irregular or no menstrual periods[[2]], heavy periods[[3]], excess body and facial hair[[4]], acne, pelvic pain, difficulty getting pregnant[[5]], and patches of thick, darker, velvety skin.[3] Associated conditions include type 2 diabetes, obesity, obstructive sleep apnea, heart disease, mood disorders, and endometrial cancer.[4]
PCOS is due to a combination of genetic and environmental factors.[6][7][15] Risk factors include obesity, a lack of physical exercise, and a family history of someone with the condition.[8] Diagnosis is based on two of the following three findings: no ovulation, high androgen levels, and ovarian cysts.[4] Cysts may be detectable by ultrasound[[6]].[9] Other conditions that produce similar symptoms include adrenal hyperplasia[[7]], hypothyroidism, and high blood levels of prolactin.[9]
PCOS has no cure as of 2020.[5] Treatment may involve lifestyle changes such as weight loss and exercise.[10][11] Birth control pills[[8]] may help with improving the regularity of periods, excess hair growth, and acne.[12] Metformin[[9]] and anti-androgen's may also help.[12] Other typical acne treatments and hair removal techniques may be used.[12] Efforts to improve fertility include weight loss, clomiphene, or metformin.[16] In vitro fertilization is used by some in whom other measures are not effective.[16]
PCOS is the most common endocrine disorder among women between the ages of 18 and 44.[17] It affects approximately 2% to 20% of this age group depending on how it is defined.[8][13] When someone is infertile due to lack of ovulation, PCOS is the most common cause.[4] The earliest known description of what is now recognized as PCOS dates from 1721 in Italy.[18]
Causes
PCOS is a heterogeneous disorder[[10]] of uncertain cause.[26][27] There is some evidence that it is a genetic disease. Such evidence includes the familial clustering of cases, greater concordance in monozygotic compared with dizygotic twins and heritability of endocrine and metabolic features of PCOS.[7][26][27] There is some evidence that exposure to higher than typical levels of androgens and the anti-Müllerian hormone (AMH) in utero increases the risk of developing PCOS in later life.[28]
Genetics The genetic component appears to be inherited in an autosomal dominant fashion with high genetic penetrance but variable expressivity in females; this means that each child has a 50% chance of inheriting the predisposing genetic variant(s) from a parent, and, if a daughter receives the variant(s), the daughter will have the disease to some extent.[27][29][30][31] The genetic variant(s) can be inherited from either the father or the mother, and can be passed along to both sons (who may be asymptomatic carriers or may have symptoms such as early baldness and/or excessive hair) and daughters, who will show signs of PCOS.[29][31] The phenotype appears to manifest itself at least partially via heightened androgen levels secreted by ovarian follicle theca cells[[11]] from women with the allele.[30] The exact gene affected has not yet been identified.[7][27][32] In rare instances, single-gene mutations can give rise to the phenotype of the syndrome.[33] Current understanding of the pathogenesis of the syndrome suggests, however, that it is a complex multigenic disorder.[34]
The severity of PCOS symptoms appears to be largely determined by factors such as obesity.
PCOS has some aspects of a metabolic disorder, since its symptoms are partly reversible. Even though considered as a gynecological problem, PCOS consists of 28 clinical symptoms.
Even though the name suggests that the ovaries are central to disease pathology, cysts are a symptom instead of the cause of the disease. Some symptoms of PCOS will persist even if both ovaries are removed; the disease can appear even if cysts are absent. Since its first description by Stein and Leventhal in 1935, the criteria of diagnosis, symptoms, and causative factors are subject to debate. Gynecologists often see it as a gynecological problem, with the ovaries being the primary organ affected. However, recent insights show a multisystem disorder, with the primary problem lying in hormonal regulation in the hypothalamus, with the involvement of many organs. The name PCOD is used when there is ultrasonographic evidence. The term PCOS is used due to the fact that there is a wide spectrum of symptoms possible, and cysts in the ovaries are seen only in 15% of people.[36]
Environment PCOS may be related to or worsened by exposures during the prenatal period, epigenetic factors[[12]], environmental impacts (especially industrial endocrine disruptors,[37] such as bisphenol A and certain drugs) and the increasing rates of obesity.
Diganosis
Doctors typically diagnose PCOS in women who have at least two of these three symptoms
.high androgen levels .irregular menstrual cycles,[[13]] .cysts in the ovaries Your doctor should also ask whether you’ve had symptoms like acne, face and body hair growth, and weight gain.
A pelvic exam[[14]], can look for any problems with your ovaries or other parts of your reproductive tract. During this test, your doctor inserts gloved fingers into your vagina and checks for any growths in your ovaries or uterus.
Blood tests check for higher-than-normal levels of male hormones. You might also have blood tests to check your cholesterol, insulin, and triglyceride levels to evaluate your risk for related conditions like heart disease and diabetes.
An ultrasound uses sound waves to look for abnormal follicles and other problems with your ovaries and uterus.
Pathophysiology
The endocrinologic abnormality of PCOS begins soon after menarche. Chronically elevated luteinizing hormone (LH) and insulin resistance are 2 of the most common endocrine aberrations seen in PCOS. The genetic cause of high LH is not known. It is interesting to note that neither an elevation in LH nor insulin resistance alone is enough to explain the pathogenesis of PCOS.[7,8,9] In vitro and in vivo evidence offer support that high LH and hyperinsulinemia work synergistically, causing ovarian growth, androgen production, and ovarian cyst formation.
Obesity, which is seen in 50% to 65% of PCOS patients, may increase the insulin resistance and hyperinsulinemia. One important caveat is that the correlation between hyperandrogenism and insulin resistance has been recognized in both obese and nonobese anovulatory women. Thus, it is important to realize that a nonobese patient may also have insulin resistance. However, the insulin levels in obese women are higher than their nonobese counterparts. Clinically, though, both groups will have evidence of hyperandrogenism and oligo-ovulation or anovulation.[6,7]
Insulin resistance can be characterized as impaired action of insulin in the uptake and metabolism of glucose.[6] https://www.wikidoc.org/index.php/Hyperprolactinemia-I) and sex hormone binding globulin (SHBG). IGFBP-I binds to IGFBP-II and SHBG binds to sex steroids, especially androgens. The triad of hyperandrogenism, insulin resistance, and acanthosis nigricans (HAIR-AN) syndrome appears in a subgroup of patients with PCOS.[6,10,11]
Acanthosis nigricans, a dark and hyperpigmented hyperplasia of the skin typically found at the nape of the neck and axilla, is a marker for insulin resistance. Acanthosis nigricans is usually found in about 30% of hyperandrogenic women. Figure 1 illustrates acanthosis nigricans evident in a patient's axilla.
Differentiating PCOS from other Diseases
Polycystic ovary syndrome must be differentiated from other causes of irregular or absent menstruation[[15]], and hirsutism[[16]], such as,[[17]]Congenital_adrenal_hyperplasia congenital adrenal hyperplasia, cushing's syndrome[[18]], hyperprolactinemia[[19]], and other pituitary[[20]], or adrenal disorders[[21]].
Symptoms
.irregular periods or no periods at all
.difficulty getting pregnant (because of irregular ovulation or failure to ovulate)
.excessive hair growth (hirsutism) – usually on the face, chest, back or buttocks
.weight gain
.thinning hair and hair loss from the head
.oily skin or acne