A novel TBX19 gene mutation in a case of congenital isolated adrenocorticotropic hormone deficiency presenting with recurrent respiratory tract infections

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 the 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. Conclusion: 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

Dental Age in Precocious and Delayed Puberty Periods.

Objectives  Precocious puberty indicates quick growth inception and delayed puberty indicates retardation in growth. This study aimed to investigate whether dental development is synchronous with somatic development. Materials and Methods  In this study, 62 girls and 34 boys with precocious puberty aged 5 to 9, 29 girls with delayed puberty aged 13 to 16, and 43 boys with delayed puberty aged 14 to 17; 169 children (91 girls and 78 boys) with normal development were compared about their dental ages through their panoramic radiographs by using the Demirjian method and skeletal ages from hand-wrist radiographs by using Greulich-Pyle atlas. Results  The findings showed that, in all cases, the dental age values were higher than chronologic and skeletal age values to a statistically significant degree. In the precocious puberty group, the dental age values were higher than chronologic age values to a statistically significant degree. In the delayed puberty group, the difference determined between the chronological age and the dental age was not found to be statistically significant. Conclusion  Given that the Demirjian method is inclined to make calculations that are higher than the chronological age, our findings suggest that the dental development was faster in the precocious puberty group and retarded in the delayed puberty group

Neutrophil Gelatinase-Associated Lipocalin as an Early Sign of Diabetic Kidney Injury in Children

Objective: There is some evidence indicating that histopathological changes in type 1 diabetes mellitus (T1DM) emerge before onset of microalbuminuria. The aim of our study was to determine whether urine neutrophil gelatinase-associated lipocalin (NGAL) levels can be considered as an early sign of diabetic kidney injury