Siasiakou Sofia M, Stoupi Eleni, Roumpou Afroditi, Papanikolopoulou Amalia, Syrigos Nikolaos, Tiniakos Dina, Peppa Melpomeni
Third Department of Internal Medicine, Sotiria General Hospital for Chest Diseases, School of Medicine, National and Kapodistrian University of Athens, 11527 Athens, Greece.
Department of Pathology, Aretaeion Hospital, School of Medicine, National and Kapodistrian University of Athens, 11528 Athens, Greece.
J Clin Med. 2025 Jun 5;14(11):3979. doi: 10.3390/jcm14113979.
Turner syndrome (TS) is a genetic chromosomal disorder including various manifestations depending on the karyotype; endocrine, gastrointestinal, respiratory, neurological, urogenital, musculoskeletal, and cardiovascular disorders contribute to increased morbidity and mortality. Liver function abnormalities are less well studied and mostly associated with insulin resistance, obesity, diabetes, hypogonadism, hypothyroidism, and autoimmune conditions. The association of liver pathology with architectural changes in various etiologies and the metabolic dysfunction-associated liver disease is of particular interest. : Herein, we present three cases of adult women with TS and the persistent elevation of liver enzymes due to porto-sinusoidal vascular disorder (PSVD). In one case, the diagnosis of TS followed the liver biopsy results. The absence of cardiometabolic risk factors, low liver stiffness and cardiovascular malformations may predict this histological diagnosis. : Liver function impairment in TS may derive from a broad spectrum of liver pathology, including PSVD, and requires careful evaluation to decrease the risk of complications.
特纳综合征（TS）是一种遗传性染色体疾病，其临床表现因核型而异；内分泌、胃肠道、呼吸、神经、泌尿生殖、肌肉骨骼和心血管疾病会导致发病率和死亡率增加。肝功能异常的研究较少，且大多与胰岛素抵抗、肥胖、糖尿病、性腺功能减退、甲状腺功能减退和自身免疫性疾病有关。肝脏病理学与各种病因引起的结构变化以及代谢功能障碍相关肝病之间的关联尤其令人关注。在此，我们报告三例成年女性TS患者，她们因门静脉窦状血管疾病（PSVD）导致肝酶持续升高。在一例中，TS的诊断是在肝活检结果之后做出的。无心脏代谢危险因素、低肝脏硬度和心血管畸形可能预示着这种组织学诊断。TS患者的肝功能损害可能源于广泛的肝脏病理学，包括PSVD，需要仔细评估以降低并发症风险。
