High frequency of X chromosome abnormalities in women with short stature and elevated liver enzymes

Abstract

Context: Paucisymptomatic forms of Turner's syndrome (TS), in which short stature is the predominant clinical abnormality, remain underdiagnosed. Abnormal liver tests are extremely frequent in adult TS patients reflecting various types of hepatic lesions. Objective: The objective of the study was to investigate whether unexplained elevated liver enzymes in women with short stature could reveal X chromosome abnormalities of undiagnosed TS. Design and Participants: Thirty-one consecutive short stature women displaying elevated liver enzymes and no previous diagnosis of TS were compared with 31 age-matched controls in a prospective study. Liver biopsy was performed in 26 patients. Main Outcome Measures: Systematic karyotype analysis and fluorescence in situ hybridization. Results: X chromosome abnormalities were found in 27 patients and one control (87.0% vs 3.2%, P