Neonatal Diabetes Due to a Mutation in the Distal PTF1A Enhancer: A Case Report and Literature Review

: Biallelic variants in the pancreas-specific transcription factor 1A (PTF1A) gene are a rare cause of permanent neonatal diabetes. We report case diabetes with unique clinical manifestations. The diagnosis affected infant was confirmed by insufficient endocrine and exocrine pancreas activity; however, normal imaging. Molecular analyses identified novel homozygous single nucleotide variant (Chr10, g.23508441T > G), affecting highly conserved within distal enhancer PTF1A gene. literature review showed that most these patients had IUGR imaging evidence pancreatic agenesis or hypoplasia. suggest evaluation function can help early confirmation