For couples who are of childbearing age and want to have children, the most feared problem is infertility. This is most likely due to lack of attention in daily life, which leads to blockage of the fallopian tubes. Women who are infertile may be suffering from polycystic ovary syndrome, but people don’t know much about this, so today we will explain this issue to you. Polycystic ovary syndrome (PCOS) is a common disease caused by complex endocrine and metabolic abnormalities in women of childbearing age. It is characterized by chronic anovulation (ovulation dysfunction or loss) and hyperandrogenism (excess production of male hormones in women). The main clinical manifestations are irregular menstrual cycles, infertility, hirsutism and/or acne. It is the most common female endocrine disease. In 1935, Stein and Leventhal summarized the four major symptoms of amenorrhea, hirsutism, obesity and infertility, which were called Stein-Leventhal syndrome (SL syndrome). PCOS patients have enlarged ovaries, thickened tunica albuginea, multiple follicles at different stages of development, and luteinized granulosa cells. PCOS is an important risk factor for type 2 diabetes, cardiovascular disease, gestational diabetes, pregnancy-induced hypertension, and endometrial cancer. The clinical phenotype of PCOS is diverse, and the cause is currently unclear. PCOS often shows familial clustering, suggesting the role of genetic factors. Patients often have mothers with irregular menstruation or fathers with premature baldness; premature baldness is the male phenotype of PCOS, and female PCOS and male premature baldness may be determined by the same allele; hyperandrogenism and/or hyperinsulinemia may be genetic characteristics that family members of PCOS patients also suffer from; family analysis studies conducted under different diagnostic criteria often suggest that the inheritance mode of PCOS is autosomal dominant; however, studies using the "single gene-variant expression model" have shown that PCOS is caused by major gene mutations and 50% can be inherited by offspring. Causes At present, there are two kinds of research on the etiology of PCOS: non-genetic theory and genetic theory. 1. Non-genetic theory of PCOS Studies have shown that the hormonal environment in the uterus during pregnancy affects the endocrine state of the individual in adulthood. Exposure to high-concentration androgen environments during pregnancy, such as mothers with a history of PCOS or mothers with congenital adrenal hyperplasia and poorly controlled hyperandrogenism, can easily lead to ovulatory dysfunction after puberty. 2. PCOS Genetics Theory The main basis of this theory is that PCOS tends to run in families. Familial ovulatory dysfunction and polycystic ovarian changes suggest that the disease has a genetic basis. Hyperandrogenism and/or hyperinsulinemia may be genetic characteristics that PCOS family members also suffer from. The effect of insulin on promoting ovarian androgen production is also affected by genetic factors or genetic susceptibility. Family members with oligoovulation, hyperandrogenism, and polycystic ovaries have an increased prevalence of hyperinsulinemia in women and premature hair loss in men. Cytogenetic studies have shown that PCOS may be inherited in an X-linked recessive, autosomal dominant or polygenic manner. Through whole genome scanning, the largest number of genetic genes related to PCOS were discovered, such as candidate genes for steroid hormone synthesis and related functions, androgen synthesis-related regulatory genes, insulin synthesis-related genes, carbohydrate metabolism and energy balance candidate genes, gonadotropin function and regulation candidate genes, adipose tissue-related genes, and chronic inflammation-related genes. In short, the etiology research of PCOS cannot confirm that the disease is caused by a certain gene site or a certain gene mutation. Its onset may be related to the action of some genes under the influence of specific environmental factors, leading to the occurrence of the disease. |
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