Heterogeneity in susceptibility to polycystic ovary syndrome among women with epilepsy

Background Epilepsy comorbidities adversely affect the quality of life of patients.Women with epilepsy are at a high risk of comorbid endocrine disorders.Among them,the polycystic ovary syndrome(PCOS)has a threefold higher prevalence in women with epilepsy than in healthy women and is the main cause of infertility among the patients.Clinically,women with epilepsy show heterogeneity in the susceptibility to PCOS.This heterogeneity may be associated with genetic factor.Methods To test this,we retrospectively collected clinical data from 45 female patients with epilepsy and divided them into three groups according to their susceptibility to PCOS.Groups A and B represented a high susceptibility to PCOS.Patients in Group A were diagnosed with PCOS before their first seizure,while patients in Group B were diagnosed with PCOS after a short period of monotherapy with a low dose of antiseizure medication(ASM)following the diagnosis of epilepsy.Patients in Group C did not develop PCOS despite a prolonged treatment with high-dose ASM.We compared the clinical data and genetic profiles among the three groups.Results We found a clear trend of impaired metabolism in Group B patients and this may be associated with highfrequency mutations in MYO10 and ADGRL3.Conclusions Our study suggests that women with epilepsy are heterogeneous in the susceptibility to PCOS and this is associated with mutations in specific genes.Therefore,genetic screening should be conducted to screen for women with epilepsy who are more likely to have comorbid PCOS,so that they can receive targeted interventions at an early stage to reduce the risk.

Managing reproductive problems in women with epilepsy of childbearing age

Girls and women constitute nearly 50%of all epilepsy cases.Apart from the disease symptoms,epilepsy and antiseizure medications(ASMs)may also affect the reproductive function,pregnancy and even the health of their offspring.Therefore,it is very important to identify and summarize the problems and risks for women with epilepsy(WWE)of childbearing age,and offer internationally recognized methods through multidisciplinary collaboration.In this review,we summarize the reproduction-related problems with WWE and propose multidisciplinary management by epileptologists,gynecologists and obstetricians,as well as other experts,from preconception to delivery.Large,multicenter registries are needed to advance our knowledge on new ASMs and their effects on WWE and their offspring.