This study investigates thyroid disease in people with a condition called RASopathy, which is a group of genetic disorders affecting growth and development. The study examines thyroid problems such as hyperthyroidism (excessive hormone production), hypothyroidism (insufficient hormone production), and thyroid nodules (lumps in the thyroid).
The study will include patients aged 3 to 25 years who have RASopathy confirmed by genetic testing. Participants will undergo blood tests to assess thyroid function and bone health, as well as a thyroid ultrasound to detect changes in size, structure, and blood flow. The study will compare these findings with those in the general population.
- Who can participate: Children and young adults aged 3 to 25 years with a genetic diagnosis of RASopathy. Participants should not have had radiation treatments, iodine deficiency, congenital hypothyroidism/hyperthyroidism, severe obesity with metabolic complications, or certain thyroid conditions
- Study details: Participants will have blood tests and a thyroid ultrasound to check for thyroid and bone health issues. The study will compare these results with those from people without RASopathy
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