Turner Syndrome
Conditions
Brief summary
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.
Detailed description
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.
Interventions
None listed
Sponsors
IRCCS Azienda Ospedaliero-Universitaria di Bologna
Study design
Observational model
COHORT
Time perspective
RETROSPECTIVE
Eligibility
Sex/Gender
FEMALE
Age
18 Years to No maximum
Healthy volunteers
No
Inclusion criteria
* Diagnosis of Turner syndrome made by karyotype analysis on peripheral blood. * Age 18 years or older * Written informed consent obtained
Exclusion criteria
* TS patients on therapy with drugs responsible for significant liver enzyme alterations (liver function alteration, LFA).
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Factors associated with hepatopathy | Baseline | 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 |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Comparison of liver morpho-functional parameters with results obtained by fibroscan. | Baseline | Liver stiffness measurement (kPa) |
Countries
Italy
Contacts
Primary ContactAlessandra Gambineri, MD
Outcome results
None listed