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

Akcan, Nese; SERAKINCI, NEDİME; Turkgenc, Burcu; Bundak, Ruveyde; Bahceciler, Nerin; Temel, ŞEHİME

doi:10.3389/fendo.2017.00064

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, Scopus)

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.