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, cilt.8, 2017 (SCI İndekslerine Giren Dergi) identifier identifier identifier


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.