The present study is therefore aimed at investigating the prevalence of hepatic alterations (laboratory and imaging) in adult patients with TS and generating hypothesissto the possible etiopathogenetic factors most involved, as well as evaluating the correlation between biochemical and structural abnormalities. Thus, the study could provide relevant etiopathogenetic and prognostic results on the development of hepatopathy in TS patients.
The study is an observational retrospective cohort type; patients with TS in longitudinal monitoring at the U.O.C. of Endocrinology and Diabetes Prevention and Care, DIMEC, of IRCCS Policlinico S. Orsola of Bologna will be enrolled. The diagnosis of TS was made for most patients by the Pediatrics unit of Policlinico S. Orsola; in rare cases it was performed in adulthood by our operating unit or at another center; in all cases, the diagnosis was made by karyotype analysis on peripheral blood. The patients, as per clinical practice, underwent clinical evaluation with measurement of anthropometric parameters; an evaluation of the patients' medical history will be performed, paying attention to possible diagnosis of metabolic comorbidities and autoimmune diseases. Complete information regarding the history of menstrual cycles and replacement therapies used will also be collected. Finally, laboratory investigations are planned.
Study Type
OBSERVATIONAL
Enrollment
120
IRCCS Azienda Ospedaliero-Universitaria di Bologna
Bologna, Italy
RECRUITINGFactors associated with hepatopathy
Hepatopathy, defined as the presence of at least one of the following conditions: * AST ≥ 35 UI/L * ALT ≥ 35 UI/L * GGT ≥ 38 UI/L * ALP ≥ 116 UI/L * Presence of hepatic steatosis
Time frame: Baseline
Comparison of liver morpho-functional parameters with results obtained by fibroscan.
Liver stiffness measurement (kPa)
Time frame: Baseline
Comparison of liver morpho-functional parameters with results obtained by fibroscan.
Spleen stiffnes measurement (kPa)
Time frame: Baseline
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