Clinical and Genetic Study of Tumors and Disorders of the Pituitary and Hypothalamus in Children and Adults

What this Trial Is About

Researchers are studying tumors of the hypothalamic-pituitary unit in children and adults aged 2 to 70 years, aiming to understand the genetic causes and developmental pathways involved in pituitary gland tumors. This observational study also serves as a training protocol for fellows and students to learn about genetic defects, tumor recognition, management, and complications. The study includes research on new MRI tools and psychological effects of cortisol secretion in pediatric patients with Cushing disease. Participants with tumors or related hypothalamic-pituitary disorders undergo various procedures including MRI scans and tissue specimen collection. The study collects peripheral blood samples and tumor tissues for molecular genetic testing and whole exome sequencing. It also evaluates cognitive, psychological, and patient-reported outcomes related to hypercortisolemia and adrenal insufficiency in children with Cushing syndrome. Participants are assessed through imaging studies, biochemical tests, and genetic analysis. The study monitors psychological and cognitive health and collects patient-reported data on mental and social well-being. This protocol also functions as a screening platform for future clinical studies on diagnosis, treatment, and follow-up of pituitary tumors. Participation involves ongoing evaluation with no specified end date, supporting the development of new therapeutic approaches and research in pituitary tumor biology.

An Investigation of Pituitary Tumors and Related Hypothalmic Disorders