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.
Genetically confirmed RASopathy
Age 3-25 years
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
patients with genetically confirmed RASopathy
Case-only
Other
Not listed
Number of patients with RASopathies presenting with thyroid function and ultrasound abnormalities compared to the general population (observational study)
Patients will undergo blood sampling for TSH, fT3, fT4, thyroid autoimmunity and a systematic color Doppler ultrasound examination of the thyroid gland. Setting a confidence level of 95% and a margin of error of 10%, the sample size is of 96 patients. The level of statistical significance will be α=0.05. Demographic, anthropometric and clinical data will be collected according to standard criteria for each center. Continuous variables will be reported as mean and standard deviation, or median and IQR, depending on their distribution. Categorical variables will be expressed as absolute and relative frequency (%). Parametric and non-parametric statistical tests will be performed depending on the variables and their distribution. Correlation analyses will be performed between the different variables.
Number of patients with RASopathies presenting with bone disease
Evaluate the association between vitamin D deficiency and/or bone disease and thyroid function and/or morphostructural abnormalities of the thyroid gland in patients with RASopathy. For each patient biomarkers of bone metabolism (calcium, phosphorus, vitamin D, ALP bone isoenzyme, PTH, osteocalcin) will be evaluated in order to find a possible association with thyroid abnormalities. In order to evaluate the association between the different variables (primarily, biomarkers of bone metabolism) and the outcomes measured (thyroid dysfunction or ultrasound abnormalities), binary logistic regression models will be built, adjusting for possible confounding factors.
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