Study of Children and Family Members With Known or Suspected Endocrine or Metabolic Disorders Including Genetic and Clinical Evaluations at NIH

What this Trial Is About

Researchers are studying children with known or suspected endocrine or metabolic disorders to better understand these conditions and their genetic causes. The study aims to identify genes involved in these disorders, which could lead to improved diagnosis and treatment options. It focuses on comprehensive evaluation of pediatric endocrine diseases and tracking their development in diverse children. Participants include children aged 3 months to 18 years with endocrine or metabolic conditions, and family members aged 3 months to 100 years who may join for genetic testing. The study involves reviewing medical records, physical exams, and medical history collection. Tests and procedures may include blood, urine, and saliva tests, growth hormone and pituitary function tests, imaging such as X-rays and ultrasounds, genetic testing, sleep studies, and medical photography. If surgery is needed, tissue samples may be collected. Family members have one visit for medical history review and DNA testing. Throughout the study, participants may have follow-up visits for diagnosis and treatment. Researchers collect various samples and medical information to evaluate endocrine diagnoses and genetic data. The study provides hands-on experience for investigators and trainees related to diagnosis, management, treatment, and follow-up of these conditions. Participation may last over several visits as needed for clinical care and research assessments.

Evaluation of Children With Endocrine and Metabolic-Related Conditions