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...

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Main Authors: Lin Chen, Ming-juan Fang, Liang-liang Zhang, Yong-feng Liu, Yong-zhu Han, Xu-en Yu, Yin Xu
Format: Article
Language:English
Published: BMC 2025-03-01
Series:BMC Endocrine Disorders
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Online Access:https://doi.org/10.1186/s12902-025-01899-z
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author Lin Chen
Ming-juan Fang
Liang-liang Zhang
Yong-feng Liu
Yong-zhu Han
Xu-en Yu
Yin Xu
author_facet Lin Chen
Ming-juan Fang
Liang-liang Zhang
Yong-feng Liu
Yong-zhu Han
Xu-en Yu
Yin Xu
author_sort Lin Chen
collection DOAJ
description 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.
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language English
publishDate 2025-03-01
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series BMC Endocrine Disorders
spelling doaj-art-4fb862f6e4904c6ea17ace5d9d4975d52025-08-20T02:49:23ZengBMCBMC Endocrine Disorders1472-68232025-03-012511910.1186/s12902-025-01899-zWilson disease combined with polycystic ovary syndrome–clinical features, treatment, and outcome in Chinese patientsLin Chen0Ming-juan Fang1Liang-liang Zhang2Yong-feng Liu3Yong-zhu Han4Xu-en Yu5Yin Xu6Institute of Neurology, Anhui University of Chinese MedicineInstitute of Neurology, Anhui University of Chinese MedicineInstitute of Neurology, Anhui University of Chinese MedicineInstitute of Neurology, Anhui University of Chinese MedicineInstitute of Neurology, Anhui University of Chinese MedicineInstitute of Neurology, Anhui University of Chinese MedicineInstitute of Neurology, Anhui University of Chinese MedicineAbstract 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.https://doi.org/10.1186/s12902-025-01899-zWilson diseaseEndocrinologic abnormalityPolycystic ovary syndromeHyperandrogenismCopper chelation therapy
spellingShingle Lin Chen
Ming-juan Fang
Liang-liang Zhang
Yong-feng Liu
Yong-zhu Han
Xu-en Yu
Yin Xu
Wilson disease combined with polycystic ovary syndrome–clinical features, treatment, and outcome in Chinese patients
BMC Endocrine Disorders
Wilson disease
Endocrinologic abnormality
Polycystic ovary syndrome
Hyperandrogenism
Copper chelation therapy
title Wilson disease combined with polycystic ovary syndrome–clinical features, treatment, and outcome in Chinese patients
title_full Wilson disease combined with polycystic ovary syndrome–clinical features, treatment, and outcome in Chinese patients
title_fullStr Wilson disease combined with polycystic ovary syndrome–clinical features, treatment, and outcome in Chinese patients
title_full_unstemmed Wilson disease combined with polycystic ovary syndrome–clinical features, treatment, and outcome in Chinese patients
title_short Wilson disease combined with polycystic ovary syndrome–clinical features, treatment, and outcome in Chinese patients
title_sort wilson disease combined with polycystic ovary syndrome clinical features treatment and outcome in chinese patients
topic Wilson disease
Endocrinologic abnormality
Polycystic ovary syndrome
Hyperandrogenism
Copper chelation therapy
url https://doi.org/10.1186/s12902-025-01899-z
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