Andrade R J, Alcántara R, Fraile J M, Lazo M D, Llamas A, Carmona C, Franquelo E
Servicio de Aparato Digestivo, Hospital Universitario Virgen de la Victoria, Málaga.
Gastroenterol Hepatol. 1995 Aug-Sep;18(7):375-8.
Turner syndrome or the gonadal dysgenesis syndrome which is monosomic because of the lack of an X chromosome (45 X) is associated to a greater incidence of autoimmune, particularly thyroidal, disorders and inflammatory intestinal disease, but is rarely associated to hepatic disorders. A female patient with chronic asymptomatic intrahepatic cholestasis which, to our knowledge, is the first reported in Spain, is herein presented. The 40-year old patient with a 45 X karyotype, feminine phenotype was accidently found to have a chronic alteration in the hepatic profile. Hepatic biochemical tests revealed AST 59 U/L, ALT 90 U/L, GGT 201 U/L and alkaline phosphatase 320 U/L. Hepatic echography was normal. Percutaneous liver biopsy was performed demonstrating minimum changes consisting of sinusoidal dilatation and pigment accumulation in the hepatocyte biliary pole. Treatment with ursodeoxycholic acid 15 mg/kg/day was administered showing a marked decrease in the laboratory parameters during follow up. Different hypothesis which may explain the association between chronic asymptomatic intrahepatic cholestasis and Turner syndrome are discussed.
特纳综合征或性腺发育不全综合征，因缺少一条X染色体（45,X）而呈单体型，与自身免疫性疾病尤其是甲状腺疾病和炎症性肠病的较高发病率相关，但很少与肝脏疾病相关。本文报告了一名患有慢性无症状肝内胆汁淤积症的女性患者，据我们所知，这是西班牙首例报告。该40岁患者核型为45,X，表现为女性表型，偶然发现肝脏指标有慢性改变。肝脏生化检查显示谷草转氨酶59 U/L、谷丙转氨酶90 U/L、γ-谷氨酰转肽酶201 U/L和碱性磷酸酶320 U/L。肝脏超声检查正常。经皮肝穿刺活检显示有轻微改变，包括肝血窦扩张和肝细胞胆小管极色素沉着。给予熊去氧胆酸15 mg/kg/天治疗，随访期间实验室指标显著下降。文中讨论了可能解释慢性无症状肝内胆汁淤积症与特纳综合征之间关联的不同假说。
