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, vol.8, 2017 (SCI-Expanded, Scopus)

Publication Type: Article / Article
Volume: 8
Publication Date: 2017
Doi Number: 10.3389/fendo.2017.00064
Journal Name: FRONTIERS IN ENDOCRINOLOGY
Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Keywords: adrenal insufficiency, adrenocorticotropic hormone, cortisol, respiratory infections, TBX19 gene, EARLY-ONSET, TPIT, AXIS
Bursa Uludag University Affiliated: Yes

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.