PDF(Pubmed)
Abstract：
UNASSIGNED: Turner syndrome (TS) is the most common sex chromosome abnormality in women, caused by a complete or partial absence of the second sex chromosome. The karyotype 46, X,i(Xq) is the underlying cause in about 10% of the cases of TS. Hepatic abnormalities are frequent in TS. Granulomas are relatively common in liver samples but are very rarely reported in TS.
UNASSIGNED: A 15-year-old female with TS attended a consultation for evaluation of elevated liver enzymes. Her chromosomal analysis showed mosaicism 46, X (iso xq)100%. There were no stigmata of chronic liver disease. A liver biopsy showed granulomatous hepatitis. Other causes of hepatic granulomas have been excluded. Ursodeoxycholic acid (UDCA) therapy leads to the normalization of transaminases.
UNASSIGNED: Although Hepatic involvement is common and mostly asymptomatic in TS, the mechanism of liver injury is not well understood. The hepatic histological changes in these cases are variable and range from minimal abnormalities to nonalcoholic steatohepatitis (NASH), liver architectural changes, and biliary lesions. Hepatic granulomas are associated with a wide range of systemic disorders but are very rarely reported in tuner syndrome. Normalization of liver enzymes after treatment with UDCA was previously reported, but the importance of this approach is to be determined.
UNASSIGNED: Granulomatous hepatitis may be associated with TS and may be added to the histological patterns encountered in this disorder.
UNASSIGNED: A 15-year-old female with TS attended a consultation for evaluation of elevated liver enzymes. Her chromosomal analysis showed mosaicism 46, X (iso xq)100%. There were no stigmata of chronic liver disease. A liver biopsy showed granulomatous hepatitis. Other causes of hepatic granulomas have been excluded. Ursodeoxycholic acid (UDCA) therapy leads to the normalization of transaminases.
UNASSIGNED: Although Hepatic involvement is common and mostly asymptomatic in TS, the mechanism of liver injury is not well understood. The hepatic histological changes in these cases are variable and range from minimal abnormalities to nonalcoholic steatohepatitis (NASH), liver architectural changes, and biliary lesions. Hepatic granulomas are associated with a wide range of systemic disorders but are very rarely reported in tuner syndrome. Normalization of liver enzymes after treatment with UDCA was previously reported, but the importance of this approach is to be determined.
UNASSIGNED: Granulomatous hepatitis may be associated with TS and may be added to the histological patterns encountered in this disorder.
摘要：
■特纳综合征（TS）是女性最常见的性染色体异常，由第二性染色体完全或部分缺失引起的。核型46,X,i(Xq)是约10%的TS病例的根本原因。肝脏异常在TS中常见。肉芽肿在肝脏样本中相对常见，但在TS中很少报道。
■一名患有TS的15岁女性参加了评估肝酶升高的咨询。她的染色体分析显示镶嵌性46,X(isoxq)100%。没有慢性肝病的柱头。肝活检显示肉芽肿性肝炎。肝肉芽肿的其他原因已被排除。熊去氧胆酸（UDCA）治疗导致转氨酶正常化。
■尽管肝脏受累在TS中很常见且大多无症状，肝损伤的机制尚不清楚。这些病例的肝组织学变化是可变的，范围从最小异常到非酒精性脂肪性肝炎（NASH），肝脏结构的变化，和胆道病变。肝肉芽肿与广泛的全身性疾病有关，但很少在调谐器综合征中报道。先前报道了用UDCA治疗后肝酶的正常化，但是这种方法的重要性有待确定。
■肉芽肿性肝炎可能与TS有关，并可能被添加到该疾病的组织学模式中。
■一名患有TS的15岁女性参加了评估肝酶升高的咨询。她的染色体分析显示镶嵌性46,X(isoxq)100%。没有慢性肝病的柱头。肝活检显示肉芽肿性肝炎。肝肉芽肿的其他原因已被排除。熊去氧胆酸（UDCA）治疗导致转氨酶正常化。
■尽管肝脏受累在TS中很常见且大多无症状，肝损伤的机制尚不清楚。这些病例的肝组织学变化是可变的，范围从最小异常到非酒精性脂肪性肝炎（NASH），肝脏结构的变化，和胆道病变。肝肉芽肿与广泛的全身性疾病有关，但很少在调谐器综合征中报道。先前报道了用UDCA治疗后肝酶的正常化，但是这种方法的重要性有待确定。
■肉芽肿性肝炎可能与TS有关，并可能被添加到该疾病的组织学模式中。
