Wilson disease combined with polycystic ovary syndrome-clinical features, treatment, and outcome in Chinese patients.

Abstract

Objective: We aimed to analyze the clinical features, treatment, and prognosis of Wilson disease (WD) combined with polycystic ovary syndrome (PCOS), and to explore the correlation between endocrine abnormalities and liver damage.

Patients and methods: The clinical data of 40 female patients of WD combined with PCOS (PCOS-WD) were retrospectively analyzed. 43 age- and BMI-matched patients of PCOS with non-WD (PCOS-NWD) were performed as the control group. The patients of PCOS-WD were assigned to adolescent group (n = 18) and reproductive age group (n = 22) according to the age onset of PCOS, and also assigned to normal testosterone group (n = 18) and elevated testosterone group (n = 22) according to the testosterone level. The clinical features, laboratory tests, imaging examinations, treatment, and outcome of all patients were analyzed, and correlation analysis was processed between gonadal hormone and liver damage parameters.

Results: The testosterone level was significantly higher in the PCOS-NWD than in the PCOS-WD patients (Z=-2.306, P = 0.021). The clinical hyperandrogenism was significantly more prevalent in adolescent group within PCOS-WD patients (P = 0.025), while the serum alanine aminotransferase was significantly higher in reproductive age group (Z=-2.572, P = 0.010). The hepatic fibrosis index was significantly higher in elevated testosterone group than in normal testosterone group (Z = -2.190, P = 0.029), while the progesterone level was lower in elevated testosterone group (Z = 2.394, P = 0.017). The testosterone level was positively correlated with the hepatic fibrosis index (P = 0.039, R = 0.328). In followed-up observations, no significant difference was found in menstrual cycle and pregnancy outcomes between progesterone combined with copper chelation therapy and copper chelation therapy alone.

Conclusion: PCOS is an important endocrine comorbidity of female WD patients. The extent of liver damage in WD patients may be related to the hormonal imbalance of PCOS. The study recommends routine screening for PCOS in adolescent WD patients. Testosterone levels may serve as a valuable reference for informing treatment decisions. Copper chelation therapy with or without progesterone is beneficial to the recovery of patients with PCOS-WD.