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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.
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| Measure | Description | Time Frame |
|---|---|---|
| Factors associated with hepatopathy | Hepatopathy, defined as the presence of at least one of the following conditions:
| Baseline |
| Measure | Description | Time Frame |
|---|---|---|
| Comparison of liver morpho-functional parameters with results obtained by fibroscan. | Liver stiffness measurement (kPa) | Baseline |
| Comparison of liver morpho-functional parameters with results obtained by fibroscan. |
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Inclusion Criteria:
Exclusion Criteria:
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The study population will be enrolled from the cohort of adult TS patients under longitudinal monitoring at the U.O.C. of Endocrinology and Diabetes Prevention and Care IRCCS Policlinico S. Orsola.
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Alessandra Gambineri, MD | Contact | +390512144628 | alessandra.gambineri@aosp.bo.it |
| Name | Affiliation | Role |
|---|---|---|
| Alessandra Gambineri, MD | IRCCS Azienda Ospedaliero-Universitaria di Bologna | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| IRCCS Azienda Ospedaliero-Universitaria di Bologna | Recruiting | Bologna | 40138 | Italy |
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| ID | Term |
|---|---|
| D014424 | Turner Syndrome |
| ID | Term |
|---|---|
| D006059 | Gonadal Dysgenesis |
| D012734 | Disorders of Sex Development |
| D014564 | Urogenital Abnormalities |
| D052776 | Female Urogenital Diseases |
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Spleen stiffnes measurement (kPa)
| Baseline |
| D005261 | Female Urogenital Diseases and Pregnancy Complications |
| D000091642 | Urogenital Diseases |
| D058533 | Sex Chromosome Disorders of Sex Development |
| D052801 | Male Urogenital Diseases |
| D006330 | Heart Defects, Congenital |
| D018376 | Cardiovascular Abnormalities |
| D002318 | Cardiovascular Diseases |
| D006331 | Heart Diseases |
| D000013 | Congenital Abnormalities |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D025064 | Sex Chromosome Disorders |
| D025063 | Chromosome Disorders |
| D030342 | Genetic Diseases, Inborn |
| D006058 | Gonadal Disorders |
| D004700 | Endocrine System Diseases |