Polycystic Ovary Syndrome

Polycystic ovary syndrome (PCOS) is one of the most common female endocrinedisorders. PCOS is a complex, heterogeneous disorder of uncertain etiology, but there is strong evidence that it can to a large degree be classified as a genetic disease.
PCOS produces symptoms in approximately 5% to 10% of women of reproductive age (12–45 years old). It is thought to be one of the leading causes of female subfertilityand the most frequent endocrine problem in women of reproductive age.
The principal features are anovulation, resulting in irregular menstruation, amenorrhea, ovulation-related infertility, and polycystic ovaries; excessive amounts or effects of androgenic hormones, resulting in acne and hirsutism; and insulin resistance, often associated with obesity, Type 2 diabetes, and high cholesterol levels. The symptoms and severity of the syndrome vary greatly among affected women.

Causes

PCOS is a complex, heterogeneous disorder of uncertain aetiology. There is strong 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.
The genetic component appears to be inherited in an autosomal dominant fashion with high genetic penetrance but variable expressivityin 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), then the daughter will have the disease to some extent. 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.The allele appears to manifest itself at least partially via heightened androgen levels secreted by ovarian follicle theca cells from women with the allele. The exact gene affected has not yet been identified.
Signs and symptoms

PCOS includes a heterogeneous collection of signs and symptoms with varying degree of mildness and severity in affecting the reproductive, endocrine and metabolic functions. The classic triad of the disorder includes hirsutism, menstrual dysfunction, and obesity. Some common symptoms of PCOS include:
    1.Menstrual disorders: PCOS mostly produces oligomenorrhea or amenorrhea, but other types of menstrual disorders may also occur.
    2.Infertility: This generally results directly from chronic anovulation (lack of ovulation).
    3.Hyperandrogenism: The most common signs are acne and hirsutism (male pattern of hair growth), but it may produce hypermenorrhea (very frequent menstrual periods) or other symptoms.Approximately three-quarters of patients with PCOS (by the diagnostic criteria of -NIH/NICHD 1990) have evidence of hyperandrogenemia.
    4.Metabolic syndrome: This appears as a tendency towards central obesity and other symptoms associated with insulin resistance. Serum insulin, insulin resistance and homocysteine levels are higher in women with PCOS.

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Polycystic ovary syndrome (PCOS) is one of the most common female endocrinedisorders. PCOS is a complex, heterogeneous disorder of uncertain etiology, but there is strong evidence that it can to a large degree be classified as a genetic disease. PCOS produces symptoms in approximately 5% to 10% of women of reproductive age (12–45 years old). It is thought to be one of the leading causes of female subfertilityand the most frequent endocrine problem in women of reproductive age. The principal features are anovulation, resulting in irregular menstruation, amenorrhea, ovulation-related infertility, and polycystic ovaries; excessive amounts or effects of androgenic hormones, resulting in acne and hirsutism; and insulin resistance, often associated with obesity, Type 2 diabetes, and high cholesterol levels. The symptoms and severity of the syndrome vary greatly among affected women. Cause PCOS is a complex, heterogeneous disorder of uncertain aetiology. There is strong 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. The genetic component appears to be inherited in an autosomal dominant fashion with high genetic penetrance but variable expressivityin 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), then the daughter will have the disease to some extent. 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.The allele appears to manifest itself at least partially via heightened androgen levels secreted by ovarian follicle theca cells from women with the allele. The exact gene affected has not yet been identified. Signs and symptoms PCOS includes a heterogeneous collection of signs and symptoms with varying degree of mildness and severity in affecting the reproductive, endocrine and metabolic functions. The classic triad of the disorder includes hirsutism, menstrual dysfunction, and obesity. Some common symptoms of PCOS include:
  • Menstrual disorders: PCOS mostly produces oligomenorrhea or amenorrhea, but other types of menstrual disorders may also occur.
  • Infertility: This generally results directly from chronic anovulation (lack of ovulation).
  • Hyperandrogenism: The most common signs are acne and hirsutism (male pattern of hair growth), but it may produce hypermenorrhea (very frequent menstrual periods) or other symptoms.Approximately three-quarters of patients with PCOS (by the diagnostic criteria of -NIH/NICHD 1990) have evidence of hyperandrogenemia.
  • Metabolic syndrome: This appears as a tendency towards central obesity and other symptoms associated with insulin resistance. Serum insulin, insulin resistance and homocysteine levels are higher in women with PCOS.

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