A Novel TBX19 Gene Mutation in a Case of Congenital Isolated Adrenocorticotropic Hormone Deficiency Presenting with Recurrent Respiratory Tract Infections


Akcan N., SERAKINCI N., Turkgenc B., Bundak R., Bahceciler N., Temel S. G.

FRONTIERS IN ENDOCRINOLOGY, vol.8, 2017 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 8
  • Publication Date: 2017
  • Doi Number: 10.3389/fendo.2017.00064
  • Title of Journal : FRONTIERS IN ENDOCRINOLOGY

Abstract

Introduction: Congenital isolated adrenocorticotropic hormone deficiency (CIAD) is a rare disease characterized by low adrenocorticotropic hormone (ACTH) and cortisol levels. To date, recurrent pulmonary infections in infancy have not been reported as an accompanying symptom of CIAD.