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 high-frequency 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.