This web page was produced as an assignment for Genetics 564, an undergraduate capstone course at UW-Madison.
WHAT IS POLYCYSTIC OVARY SYNDROME?
Polycystic ovary syndrome (PCOS) is one of the most common hormonal disorders affecting women of reproductive age. People with PCOS can present with an imbalance of reproductive hormones and/or metabolism issues that may affect their overall health. [1,2]
SIGNS AND SYMPTOMS |
Signs and symptoms of PCOS usually develop during puberty but can develop later in life. Symptoms will vary from person to person; a diagnosis of PCOS is made when at least two of the following three symptoms are present [1,4]:
Irregular menstrual cycle Excess androgen Polycystic ovaries |
|
CLINICAL FEATURES AND COMPLICATIONS |
Reproductive
Around 70% of women with PCOS report infertility and PCOS may result in an increased risk of miscarriage and pregnancy complications. [5] Metabolic syndrome An increased risk of developing obesity and/or type 2 diabetes is associated with PCOS as well as an adverse cardiovascular risk profile including hypertension and sleep apnea. [5] Psychosocial health It is becoming abundantly clear that people with PCOS are more likely to experience mood disorders. It's still unclear exactly how these disorders are related, but it is theorized that clinical features such as obesity, insulin resistance, hirsutism (unwanted male-pattern hair growth in women), weight gain, acne, and infertility may be driving factors for anxiety and depression in people with PCOS. [5] |
A MISNOMER?
"Polycystic ovary syndrome" has been discussed as being a misnomer in recent years because it focuses on a criterion that is neither necessary nor sufficient for diagnosis. [3]
WHAT CAUSES PCOS?
The underlying cause of PCOS is a defect of the ovarian cells resulting in hyperandrogenism and leading to other clinical and biochemical symptoms. [7] The participation of genetic factors has been highlighted and studied in the past, but because of the complexity of the disorder and the possibility for several different phenotypes, pinpointing causal genes and environmental factors is still an expanding area of study. More than 70 candidate genes have been - and are still being - examined for a causal role in PCOS [8]; one of the most attractive being the Steroidogenic acute regulatory protein (StAR) gene because it is involved in initiating steroidogenesis. [9,10]
STEROIDOGENIC ACUTE REGULATORY PROTEIN (StAR)
The StAR gene is located at position p11.23 on chromosome 8, as depicted in the image below. The StAR protein initiates the steroidogenesis process by transporting cholesterol - the precursor for steroids - within the mitochondrial membrane of cells. This transport is believed to be the rate-limiting step in steroidogenesis, making it a great causal candidate for PCOS. [9,10] While several homolog studies of PCOS have resulted in increased expression of StAR [11,12], the exact underlying mechanism for why or how this occurs is unclear. Recently, a study found a significant difference in methylation for a specific CpG site (-822) in the promoter for StAR in PCOS mice homologs, however, no significant difference was found for overall methylation of the sites studied.
TREATMENT
Because the signs and symptoms of PCOS present differently from person to person, treatment also varies accordingly with which effects each person wishes to treat. [7]
Infertility: There are drug treatments that have been shown to be extremely effective in allowing those with PCOS to become pregnant including clomifene and metformin. [7]
Menstrual disturbances: Oral contraceptives can effectively restore menstrual rhythm and reduce hyperandrogenism. [5,7]
Symptoms of hyperandrogenism: Hirsutism, alopecia, acne, etc. are the most common cause of concern for individuals with PCOS. There exists pharmacological treatment using antiandrogens as well as cosmetic hair removal treatments. [7] Additionally, there is activism surrounding women with PCOS who embrace their natural features. [6]
Obesity: A combination of lifestyle modifications, diet, and pharmacological intervention can be applied to reduce weight and related metabolic issues. [5,7]
PCOS Awareness Association
P. O. Box 88788
Seattle, Washington 98138-2788 USA
P. O. Box 88788
Seattle, Washington 98138-2788 USA
References
[1] “Polycystic Ovary Syndrome (PCOS).” Mayo Clinic, Mayo Foundation for Medical Education and Research, 29 Aug. 2017, www.mayoclinic.org/diseases-conditions/pcos/symptoms-causes/syc-20353439.
[2] “Polycystic Ovary Syndrome.” Womenshealth.gov, The Office on Women's Health, 22 Oct. 2018, www.womenshealth.gov/a-z-topics/polycystic-ovary-syndrome
[3] Spinasanta, Susan. “It's Time to Rename Polycystic Ovary Syndrome.” Endocrine Web, 2016, www.endocrineweb.com/professional/meetings/its-time-rename-polycystic-ovary-syndrome.
[4] Trivax, B., & Azziz, R. (2007). Diagnosis of polycystic ovary syndrome. Clinical Obstetrics and Gynecology, 50(1):168–177.
[5] Neven, A. C. H. et al. (2018). A Summary on Polycystic Ovary Syndrome: Diagnostic Criteria, Prevalence, Clinical Manifestations, and Management According to the Latest International Guidelines. 36(1):5-12.
[6] Bakkila, Blake. “These 8 Women With PCOS Are Embracing Their Beards and Body Hair.” Health.com, 2018, www.health.com/beauty/women-embracing-bears-body-hair-pcos.
[7] Bednarska, S. & Siejka, A. (2017). The pathogenesis and treatment of polycystic ovary syndrome: What’s new? Advances in Clinical and Experimental Medicine. 26(2):359–367.
[8] Urbanek, M. (2007). The genetics of the polycystic ovary syndrome. Nature Clinical Practice Endocrinology & Metabolism. 3:103-111.
[9] Panda, P. K. et al. (2016). Genetics of PCOS: A systematic bioinformatics approach to unveil the proteins responsible for PCOS. Genome Data. 8:52-60.
[10] Kahsar-Miller, M. D. et al. (2001). Steroidogenic acute regulatory protein (StAR) in the ovaries of healthy women and those with polycystic ovary syndrome. American Journal of Obstetrics and Gynecology. 185(6):1381-1387
[11] Jahromi, M. S. et al. (2016). Elevated expression of steroidogenesis pathway genes; CYP17, GATA6 and StAR in prenatally androgenized rats. Gene. 593(1):167-171.
[12] Jahromi, M. S. et al. (2018). Hypomethylation of specific CpG sites in the promoter region of steroidogeneic genes (GATA6 and StAR) in prenatally androgenized rats. Life Sciences. 207:105-109.
[13] Genetics Home Reference. “STAR Gene” U.S. National Library of Medicine, National Institutes of Health, 2019, ghr.nlm.nih.gov/gene/STAR#location.
Header image: https://www.lotusflowerpcos.com/en/what-is-the-polycystic-ovary-syndrome-pcos/
[1] “Polycystic Ovary Syndrome (PCOS).” Mayo Clinic, Mayo Foundation for Medical Education and Research, 29 Aug. 2017, www.mayoclinic.org/diseases-conditions/pcos/symptoms-causes/syc-20353439.
[2] “Polycystic Ovary Syndrome.” Womenshealth.gov, The Office on Women's Health, 22 Oct. 2018, www.womenshealth.gov/a-z-topics/polycystic-ovary-syndrome
[3] Spinasanta, Susan. “It's Time to Rename Polycystic Ovary Syndrome.” Endocrine Web, 2016, www.endocrineweb.com/professional/meetings/its-time-rename-polycystic-ovary-syndrome.
[4] Trivax, B., & Azziz, R. (2007). Diagnosis of polycystic ovary syndrome. Clinical Obstetrics and Gynecology, 50(1):168–177.
[5] Neven, A. C. H. et al. (2018). A Summary on Polycystic Ovary Syndrome: Diagnostic Criteria, Prevalence, Clinical Manifestations, and Management According to the Latest International Guidelines. 36(1):5-12.
[6] Bakkila, Blake. “These 8 Women With PCOS Are Embracing Their Beards and Body Hair.” Health.com, 2018, www.health.com/beauty/women-embracing-bears-body-hair-pcos.
[7] Bednarska, S. & Siejka, A. (2017). The pathogenesis and treatment of polycystic ovary syndrome: What’s new? Advances in Clinical and Experimental Medicine. 26(2):359–367.
[8] Urbanek, M. (2007). The genetics of the polycystic ovary syndrome. Nature Clinical Practice Endocrinology & Metabolism. 3:103-111.
[9] Panda, P. K. et al. (2016). Genetics of PCOS: A systematic bioinformatics approach to unveil the proteins responsible for PCOS. Genome Data. 8:52-60.
[10] Kahsar-Miller, M. D. et al. (2001). Steroidogenic acute regulatory protein (StAR) in the ovaries of healthy women and those with polycystic ovary syndrome. American Journal of Obstetrics and Gynecology. 185(6):1381-1387
[11] Jahromi, M. S. et al. (2016). Elevated expression of steroidogenesis pathway genes; CYP17, GATA6 and StAR in prenatally androgenized rats. Gene. 593(1):167-171.
[12] Jahromi, M. S. et al. (2018). Hypomethylation of specific CpG sites in the promoter region of steroidogeneic genes (GATA6 and StAR) in prenatally androgenized rats. Life Sciences. 207:105-109.
[13] Genetics Home Reference. “STAR Gene” U.S. National Library of Medicine, National Institutes of Health, 2019, ghr.nlm.nih.gov/gene/STAR#location.
Header image: https://www.lotusflowerpcos.com/en/what-is-the-polycystic-ovary-syndrome-pcos/