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 Ş. G.

FRONTIERS IN ENDOCRINOLOGY, cilt.8, 2017 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 8
  • Basım Tarihi: 2017
  • Doi Numarası: 10.3389/fendo.2017.00064
  • Dergi Adı: FRONTIERS IN ENDOCRINOLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Anahtar Kelimeler: adrenal insufficiency, adrenocorticotropic hormone, cortisol, respiratory infections, TBX19 gene, EARLY-ONSET, TPIT, AXIS
  • Bursa Uludağ Üniversitesi Adresli: Evet

Özet

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.