Endocrine and Reproductive Medicine Unit, Center of Rare Endocrine Diseases of Growth and Development (CMERCD), FIRENDO, Endo ERN Hôpital Saint-Antoine, Sorbonne University, Assistance Publique-Hôpitaux de Paris, 75012 Paris, France.
Medical Information Department, Hôpital Saint-Antoine, Assistance Publique-Hôpitaux de Paris, 75012 Paris, France.
J Clin Endocrinol Metab. 2023 Aug 18;108(9):2255-2261. doi: 10.1210/clinem/dgad108.
Liver function abnormalities (LFAs) have been described in patients with Turner syndrome (TS). Although a high risk of cirrhosis has been reported, there is a need to assess the severity of liver damage in a large cohort of adult patients with TS.
Evaluate the types of LFAs and their respective prevalence, search for their risk factors, and evaluate the severity of liver impairment by using a noninvasive fibrosis marker.
This was a monocentric retrospective cross-sectional study. Data were collected during a day hospital visit. The main outcome measures were liver enzymes (alanine aminotransferase, aspartate aminotransferase, gamma-glutamyl transferase, alkaline phosphatase), FIB-4 score, liver ultrasound imaging, elastography, and liver biopsies, when available.
264 patients with TS were evaluated at a mean age of 31.15 ± 11.48 years. The overall prevalence of LFAs was 42.8%. The risk factors were age, body mass index, insulin resistance, and an X isochromosome (Xq). The mean FIB-4 sore of the entire cohort was 0.67 ± 0.41. Less than 10% of patients were at risk of developing fibrosis. Cirrhosis was observed in 2/19 liver biopsies. There was no significant difference in the prevalence of LFAs between premenopausal patients with natural cycles and those receiving hormone replacement therapy (P = .063). A multivariate analysis adjusted for age showed no statistically significant correlation between hormone replacement therapy and abnormal gamma-glutamyl transferase levels (P = .12).
Patients with TS have a high prevalence of LFA. However, 10% are at high risk of developing fibrosis. The FIB-4 score is useful and should be part of the routine screening strategy. Longitudinal studies and better interactions with hepatologists should improve our knowledge of liver disease in patients with TS.
特纳综合征（TS）患者会出现肝功能异常（LFAs）。尽管已有报道称其肝硬化风险较高，但仍需在大量 TS 成年患者中评估其肝损伤严重程度。
评估 LFAs 的类型及其各自的患病率，寻找其危险因素，并使用非侵入性纤维化标志物评估肝损伤严重程度。
这是一项单中心回顾性横断面研究。数据采集于日间病房就诊期间。主要结局指标包括肝酶（丙氨酸氨基转移酶、天冬氨酸氨基转移酶、γ-谷氨酰转移酶、碱性磷酸酶）、FIB-4 评分、肝脏超声成像、弹性成像和肝活检（如有）。
共评估了 264 例 TS 患者，平均年龄为 31.15 ± 11.48 岁。LFAs 的总体患病率为 42.8%。危险因素为年龄、体重指数、胰岛素抵抗和 X 等臂染色体（Xq）。整个队列的平均 FIB-4 评分（score）为 0.67 ± 0.41。不到 10%的患者有发生纤维化的风险。19 例肝活检中有 2 例观察到肝硬化。自然周期的绝经前患者和接受激素替代治疗的患者之间 LFAs 的患病率无显著差异（P =.063）。调整年龄的多变量分析显示，激素替代治疗与异常γ-谷氨酰转移酶水平之间无统计学显著相关性（P =.12）。
TS 患者 LFAs 患病率较高。然而，10%的患者有发生纤维化的高风险。FIB-4 评分具有实用性，应作为常规筛查策略的一部分。开展纵向研究并与肝病专家更好地互动，有助于提高我们对 TS 患者肝脏疾病的认识。
