1. A Novel TBX19 Gene Mutation in a Case of Congenital Isolated Adrenocorticotropic Hormone Deficiency Presenting with Recurrent Respiratory Tract Infections
- Author
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Nese Akcan, Burcu Turkgenc, Sehime Gulsun Temel, Rüveyde Bundak, Nedime Serakinci, Nerin N. Bahceciler, Uludağ Üniversitesi/Tıp Fakültesi/Histoloji ve Embriyoloji Anabilim Dalı., Temel, Şehime Gülsün, AAG-8385-2021, and Acibadem University Dspace
- Subjects
Male ,0301 basic medicine ,Hydrocortisone ,Endocrinology, Diabetes and Metabolism ,adrenocorticotropic hormone ,Corticotropin deficiency ,Case Report ,Gene mutation ,Compound heterozygosity ,Gene ,Lower respiratory tract infection ,Exon ,Glucocorticoid ,0302 clinical medicine ,Endocrinology ,Child ,Endocrinology & metabolism ,Early-onset ,Heterozygosity ,Messenger RNA ,Genetic analysis ,Tpit ,Complementary DNA ,Chorionic gonadotropin ,Hypopituitarism ,Growth Hormone Secreting Cell ,Axis ,adrenal insufficiency ,Human ,TBX19 gene ,030209 endocrinology & metabolism ,Adrenocorticotropic hormone ,Biology ,cortisol ,Article ,Frameshift mutation ,03 medical and health sciences ,respiratory infections ,medicine ,Adrenal insufficiency ,Steroid ,Estriol ,Follow up ,medicine.disease ,Gene frequency ,030104 developmental biology ,Preschool child ,Immunology ,Corticotropin ,School child ,Gene expression ,Adrenocorticotropic hormone deficiency ,Rare disease - 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. Case Presentation: A 7-year-old boy was hospitalized nine times for recurrent lower respiratory tract infections. The results of all tests for the possible causes of wheezing were within the normal limits. His ACTH and cortisol levels were persistently low. All other pituitary hormone levels, and adrenal ultrasound and pituitary magnetic resonance imaging results, were normal. Molecular analyses confirmed the diagnosis of CIAD by identifying compound heterozygosity for two mutations in the TBX19 gene. The first was a novel frameshift c.665delG variant in exon 4 of TBX19 gene, leading to premature termination that was predicted to result in a non-functional truncated protein. The second was a nonsense C-to-T transition in exon 6 of the TBX19 gene, resulting in an arg286-to-ter mutation (dbSNP: rs74315376). Both parents were heterozygous for one of the mutations. Conclusions: Here, we presented a new mutation in the TBX19 gene in a patient with CIAD who presented with recurrent respiratory tract infections. This expands the mutation spectrum in this disorder. To conclude, adrenal insufficiency should be considered in patients with unexplained recurrent infections to prevent a delay in diagnosis. Keywords: Adrenal insufficiency; adrenocorticotropic hormone; cortisol; respiratory infections; TBX19 gene
- Published
- 2017