PCOS is an endocrine disorder affecting women of reproductive age. It typically starts in adolescence and causes menstrual irregularities, signs of male hormone excess (such as acne, excess of facial and body hair), and ovarian cysts. Obesity, diabetes, an unhealthy lifestyle, and a family history of PCOS can increase women’s risk of developing this disease. The diagnosis involves a complete medical history, physical examination, biochemical blood tests, and ultrasound examination. A healthy diet and regular exercise can help in reducing symptoms and avoiding serious complications like heart disease, endometrial cancer, diabetes, etc.
Polygenic score
Influential genes: LHCGR, THADA
This gene encodes the receptor for luteinizing hormone (LH). Variations in the LHCGR gene have been linked to PCOS.
THADA is involved in insulin signaling and may play a role in the development of insulin resistance and PCOS.
PCOS is one of the most common endocrine disorders affecting women of childbearing age. The worldwide prevalence is estimated to be 5-10%. The existing data is not conclusive enough to determine whether or not there are any significant differences in the prevalence of PCOS across geographical locations and racial or ethnic groups. The risk factors for developing this disorder are obesity, diabetes, and unhealthy behaviors such as overconsumption of foods and drinks containing high levels of sugar, fructose, trans fat, animal fat, and processed foods.
PCOS is a polygenic and multifactorial disorder. The incidence of polycystic ovaries is increased in first-degree relatives of PCOS patients and positive family history appears to be one the most informative risk factors for the disease development. Many genes are considered to be associated with the disease and may affect fertility either directly or indirectly. However, different studies focused on patients from multiple families failed to find a fully penetrant variant(s). Twin studies suggested that PCOS is neither an autosomal dominant nor a monogenic disease.
Elevated androgen level is the most common endocrine disorder associated with PCOS. Several candidate genes have been reported, such as CYP11a, CYP21, CYP17, CYP19, or single nucleotide polymorphism (SNP) in the SHBG gene. Other polymorphisms have been also observed and considered as potentially causative, e.g. in FTO or VDR gene. LH (Luteinizing hormone) level and distorted function of LH are often reported as a cause of PCOS as well.[2,3,4]
Anyway, PCOS is a polygenic disease. In Macromo, we use Polygenic Risk Score (PRS) to determine the genetic risk. The PRS is an estimate of the probability that an individual carries a given trait based on genetics, without considering environmental factors.[5]
Women with PCOS have hormonal imbalances that interfere with normal reproductive processes. The symptoms typically occur in adolescence, around the time of the first menstrual period. Sometimes PCOS can occur later in life, for example in response to weight gain. Women can experience changes in their menstrual cycle, like heavy, prolonged, absent, or irregular periods, which is a risk factor for endometrial cancer. Many women affected by this disorder do not ovulate regularly, which can lead to enlarged polycystic ovaries and difficulties conceiving. Elevated levels of male hormones (androgens) can cause acne, excess facial and body hair (hirsutism), and male-pattern baldness. A relationship between insulin resistance, obesity and PCOS has been suggested, but the exact mechanism of interaction of these conditions isn’t known yet. It is assumed that one condition worsens the other and vice versa due to the imbalance of hormones levels.
PCOS can be diagnosed based on medical history, physical examination, blood tests, and a pelvic ultrasound. If a woman has at least two of the three main symptoms: high androgen levels, irregular periods, and ovarian cysts, a doctor will diagnose PCOS.
The best way to manage PCOS is through lifestyle changes (healthy diet, regular exercise).
For women who don’t wish to conceive, a suitable option is combined oral contraceptive therapy which controls menstruation and treats hyperandrogenism. For women who wish to conceive, the primary goal is to induce ovulation, which can be done using various medications (letrozole, clomiphene, etc.). Nowadays, there is also a surgical method of ovulation induction called laparoscopic ovarian drilling, which uses heat or laser to induce ovulation. It is currently considered a safe and effective alternative to ovulation induction in infertile women with PCOS.
There is no proven way to prevent PCOS but adopting a healthy lifestyle can reduce symptoms and prevent some serious complications. This includes regular exercise and a healthy diet.
PCOS can lead to several serious complications. Menstrual irregularity can increase the risk of overgrowth of the uterine lining (endometrial hyperplasia) or even endometrial cancer. PCOS is the most common cause of infertility - the inability to conceive. Other consequences of PCOS that have a great influence on women’s quality of life include weight gain and obesity, sleep apnea, heart disease, high blood pressure, depression, anxiety, and sexual dysfunction.. Women with polycystic ovary syndrome who eventually become pregnant are at higher risk of miscarriage, gestational diabetes, gestational hypertension, preeclampsia, and preterm birth.
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