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 a case of neonatal diabetes with unique clinical manifestations. The clinical diagnosis of the affected infant was confirmed by insufficient endocrine and exocr...

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Bibliographic Details
Main Authors:	Amirhakimi, A. (Author), Haghighi, A. (Author), Ilkhanipoor, H. (Author), Mirrashidi, F.S (Author), Moravej, H. (Author)
Format:	Article
Language:	English
Published:	Kowsar Medical Institute 2022
Subjects:	agenesis anthropometry Apgar score Article case report Cerebellar Hypoplasia cerebellum hypoplasia chronic diarrhea clinical article clinical assessment clinical feature diabetes mellitus diagnostic imaging early diagnosis echography endocrine disease enhancer region exocrine pancreatic insufficiency face dysmorphia female fetus fetus distress fetus echography gene mutation genetic analysis genetic conservation gestational age glucose glucose blood level guanine homozygote human hyperbilirubinemia hypoplasia infant insulin detemir insulin glulisine intrauterine growth retardation isophane insulin laboratory test molecular diagnosis Neonatal Diabetes neonatal intensive care unit neonatal pneumonia newborn newborn disease newborn sepsis non insulin dependent diabetes mellitus nuclear magnetic resonance imaging nucleotide ophthalmoscopy pancreas disease pancreas function test pancreas specific transcription factor 1A pancreatic agenesis Pancreatic Agenesis pancrelipase physical examination pig insulin PTF1A PTF1A gene thymine transcription factor unclassified drug
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Neonatal Diabetes Due to a Mutation in the Distal PTF1A Enhancer: A Case Report and Literature Review

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