Table 1

TBX19 gene analysis results confirming the diagnosis of IAD

TBX19 regionBase changeCodon changeMutation typeInterpretation
Exon 1C.158_159 delGA heterozygousp.Arg53fsFrame-shift deletionUnlisted*
Exon 3C.535C>T heterozygousp.Arg179Non-senseACTH deficiency
Exon 2, 4–8No abnormalitiesNo abnormalitiesNot applicableNegative
  • *Likely to be pathogenic, based on the effects of similar small frame-shift deletions.

  • ACTH, adrenocorticotropic hormone; IAD, isolated adrenocorticotropic hormone deficiency.