Clinical and Genetic Study of Pituitary and Hypothalamic Tumors and Disorders in Children and Adults

What this Trial Is About

Researchers are investigating tumors of the hypothalamic-pituitary unit in children and adults aged 2 to 70 years. These tumors, including craniopharyngioma, are among the more common central nervous system tumors in childhood. The study aims to identify the genetic causes of these tumors, understand their inheritance patterns, and explore associations with other developmental defects. It also serves as a training opportunity for fellows and students in recognizing, managing, and understanding complications related to pituitary tumors. The study involves collecting peripheral blood samples and tumor tissue specimens for molecular genetic testing, including whole exome sequencing. Participants may undergo MRI scans as part of the evaluation. The protocol supports developing new clinical studies and tools, such as advanced MRI techniques and psychological assessments related to cortisol secretion in children with Cushing disease. The study serves as a screening protocol and aims to generate new research protocols addressing diagnosis and therapy of pituitary tumors. Participants will be evaluated through clinical assessments, imaging, and cognitive and psychological testing to assess mental and social well-being and symptoms related to cortisol imbalance. Researchers will monitor outcomes related to genetic findings, tumor characteristics, and patient-reported health status. The study emphasizes ongoing collection of biospecimens and follow-up assessments to support future research and improve therapeutic approaches over the course of participation.

An Investigation of Pituitary Tumors and Related Hypothalmic Disorders