Phenotype and genotype of polycystic ovary syndrome in Asia: Ethnic differences

Abstract

Polycystic ovary syndrome (PCOS) is a common endocrine disorder in reproductive-aged women, and ethnic diversity has been reported in its manifestation. This review addressed phenotype and genetic studies in Asian women with PCOS. Generally, East Asians are less hirsute, and the hirsutism score cutoff is lower than the Caucasian counterpart. It is not clear whether there are any significant differences in the prevalence or severity of irregular menstruation (IM) or characteristics of polycystic ovary (PCO) across ethnicities. Interestingly, the IM/PCO subgroup is a relatively common phenotype in East Asian patients but not in Caucasian patients. The prevalence of insulin resistance in PCOS patients varies depending on the index used and the cutoff, but women with PCOS showed a higher degree of insulin resistance than those of controls across ethnicities. Lower body mass index (BMI) and lower prevalence of metabolic syndrome were reported in East Asian patients, but despite lower BMI, a comparative study reported that Asian women with PCOS were more likely to have diabetes compared with Caucasian patients, suggesting they also have metabolic complications. Unlike East Asian patients, South Asian patients showed an increased degree of hirsutism, early onset of symptoms, and severe insulin resistance and metabolic risks compared with Caucasians. Genetic components play important roles in the pathogenesis of PCOS, and genome-wide association studies of PCOS suggest that similar genetic risk factors exist between Asian and Caucasian patients. Continuous comparative studies are needed to standardize the diagnosis and management of PCOS across different ethnicities.

Frequency of night shift and menstrual cycle characteristics in Japanese nurses working under two or three rotating shifts

“…8 Polycystic ovary syndrome (PCOS) is a common endocrine disorder in women of reproductive age and irregular menstruation, and the polycystic ovary subgroup is relatively common in Asian ethnicities. 10 In addition, genetic studies on PCOS reported that there is polymorphism in follicular stimulating hormone receptor gene, which plays key role in a menstrual cycle. 11,12 These might be the reasons for the higher risk of irregular menstrual cycles in Asian ethnicities.…”

“…The Nurse's Health Study II showed that women of Asian ethnicity had a higher risk of irregular menstrual cycles than that of white people (PR: 1.38, 95% confidence interval [CI]: 1.19‐1.61) 8 . Polycystic ovary syndrome (PCOS) is a common endocrine disorder in women of reproductive age and irregular menstruation, and the polycystic ovary subgroup is relatively common in Asian ethnicities 10 . In addition, genetic studies on PCOS reported that there is polymorphism in follicular stimulating hormone receptor gene, which plays key role in a menstrual cycle 11,12 .…”

Methylenetetrahydrofolate reductase gene polymorphisms in the risk of polycystic ovary syndrome and ovarian cancer

“…Despite confounding factors that could not be excluded from the study, such findings may indicate that different genetic components could play different extends of roles in the disease development, leading to different manifestations. For instance, it was reported that East Asian patients with PCOS were more likely to have diabetes compared with Caucasian patients [56]. Thus, continuous genome-based studies are needed to personalize the diagnosis and management of PCOS across different ethnicities.…”

A network pharmacological approach to evaluate Jia-Wei-Xiao-Yao-san formula’s mechanistic pathways and its implication in the symptomatology of polycystic ovarian syndrome

“…Recent meta-systemic analyses pointed out at large trials variation (5-13%) in the overall prevalence of PCOS, according to the National Institutes of Health, Rotterdam and Androgen Excess Society criteria. [1][2][3] These variations are due to problematic definitions of the PCOS syndrome and its phenotypic expression (e.g. hyperandrogenism to hirsutism, anovulation to infertility, amenorrhea to irregular/heavy uterine bleeding, insulin resistance to obesity), as well as its diagnostic cut-off between different study size cohorts and ethnicities in an unselected population, and these criteria contribute in patients' PCOS diagnosis bias.…”

“…hyperandrogenism to hirsutism, anovulation to infertility, amenorrhea to irregular/heavy uterine bleeding, insulin resistance to obesity), as well as its diagnostic cut-off between different study size cohorts and ethnicities in an unselected population, and these criteria contribute in patients' PCOS diagnosis bias. [1][2][3][4] Hence, identifying the correct PCOS etiology is pivotal in adopting the best clinical practices.…”