Rare Causes of Primary Adrenal Insufficiency: Genetic and Clinical Characterization of a Large Nationwide Cohort.


GÜRAN T., Buonocore F., Saka N., Ozbek M. N. , Aycan Z., BEREKET A., ...More

The Journal of clinical endocrinology and metabolism, vol.101, no.1, pp.284-92, 2016 (Peer-Reviewed Journal) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 101 Issue: 1
  • Publication Date: 2016
  • Doi Number: 10.1210/jc.2015-3250
  • Journal Name: The Journal of clinical endocrinology and metabolism
  • Journal Indexes: Science Citation Index Expanded, Scopus
  • Page Numbers: pp.284-92

Abstract

Context: Primary adrenal insufficiency (PAI) is a life-threatening condition that is often due to monogenic causes in children. Although congenital adrenal hyperplasia occurs commonly, several other important molecular causes have been reported, often with overlapping clinical and biochemical features. The relative prevalence of these conditions is not known, but making a specific diagnosis can have important implications for management.