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

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

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

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.