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Study of the Thyroid Function and Echostructural Morphology in Patients Affected With Rasopathies (ECORAS2023)

Study of the Thyroid Function and Echostructural Morphology in Patients Affected With Rasopathies. An Italian Multicenter Study

About This Trial

The study aims to evaluate the prevalence of thyroid disease, particularly with autoimmune pathogenesis (isolated hyperthyrotropinemia, hyperthyroidism, hypothyroidism, thyroid nodules) and/or morphostructural abnormalities of the thyroid gland in patients with RASopathy genetically confirmed by NGS technique (analysis of the genes: BRAF, CBL, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, MRAS, NRAS, PPP1CB, PTPN11, RAF1, RIT1, RRAS2, SHOC2, SOS1, SOS2) and to compare the data obtained in our sample with those of the general population. The secondary aim of the study is to evaluate the association between vitamin D deficiency and/or other abnormalities of bone metabolism and thyroid disease and/or morphostructural anomalies of the thyroid gland in patients with RASopathy.

Who May Be Eligible (Plain English)

Who May Qualify: - Genetically confirmed RASopathy - Age 3-25 years Who Should NOT Join This Trial: - Previous radiotherapy treatments, known exposure to ionizing radiation - Iodine deficiency - Use of iodine-based compounds or drugs that interfere with thyroid function - Congenital hypothyroidism/hyperthyroidism - Severe obesity with metabolic complications Always talk to your doctor about whether this trial is right for you.

Original Eligibility Criteria

View original clinical language

Inclusion Criteria: * Genetically confirmed RASopathy * Age 3-25 years Exclusion Criteria: * Previous radiotherapy treatments, known exposure to ionizing radiation * Iodine deficiency * Use of iodine-based compounds or drugs that interfere with thyroid function * Congenital hypothyroidism/hyperthyroidism * Severe obesity with metabolic complications

Locations (1)

University of Bari

Bari, Italy