Treatment, recognition of, and screening for congenital adrenal hyperplasia and other rare endocrine disorders has been steadily improving in recent years. However, follow up for these conditions has been limited to short term data, designed to assess false positive rates, best practices for confirming cases, and determination of true positive rates. The CAH workgroup is developing a registry to formally collect long term outcomes data. The registry will serve as an infrastructure accumulating meaningful sample sizes for mining of data intrinsic to the database, as well as for recruitment for future interventional studies. It is anticipated that the CAH registry will result in the development of evidence-based treatment protocols, potentially improving the care, health and quality of life for children diagnosed with these rare conditions.
