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Case report: Neonatal diabetes mellitus with congenital hypothyroidism as a result of biallelic heterozygous mutations in GLIS3 gene.

Pediatric diabetes - 1 Sept 2022

Perdas Ewelina, Gadzalska Karolina, Hrytsiuk Ihor, Borowiec Maciej, Fendler Wojciech, Młynarski Wojciech

Abstract excerpt

Neonatal diabetes mellitus with congenital hypothyroidism (NDH) syndrome (MIM# 610199) is a rare disease caused by autosomal recessive mutations in the GLIS3 gene. GLIS3 is an important transcription factor that might acts as both a repressor and activator of transcription. To date, 22 cases of NDH syndrome from 16 families and 11 countries have been described. Herein, we report a child who developed diabetes...

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PMID: 35394098
DOI: 10.1111/pedi.13341

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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