Background: Neonatal diabetes is a rare disease having usually a genetic origin. Defects in KCNJ11, ABCC8, INS, GCK, and PDX1 genes are more frequent and may lead non-transient, non-syndromic neonatal diabetes, whereas defects in PTF1A, FOXP3, EIF2AK3, GLIS3, RFX6, and NEUROD1 genes are very rare and may lead neonatal diabetes as a part of a syndrome.
Objective and hypotheses: We present a patient with GLIS3 gene deletion in this case report.
Results: Patient presented with prematurity, intrauterine growth retardation, respiratory distress syndrome, neonatal diabetes mellitus, severe resistant hypothyroidism with normal thyroid anatomy, neonatal cholestasis, isolated renal cyst, facial dysmorphism had been admitted to our hospital. Genetic analysis revealed that PCR amplification was successful for exons 12 and 511 of the GLIS3 gene but not for exons 34, suggesting the homozygous partial gene deletion. This result confirmed a diagnosis of neonatal diabetes and congenital hypothyroidism due to a GLIS3 gene mutation. The patient died at 5 months of age from measles infection.
Conclusion: There are a few patients with GLIS3 mutation reported in the literature. Some authors have emphasized different genotype may lead different clinical fenotype. Regarding to our patient, the GLIS3 gene, exon 34 mutation may lead to intrauterine growth retardation, respiratory distress syndrome, neonatal diabetes mellitus, severe resistant hypothyroidism with normal thyroid anatomy, neonatal cholestasis, isolated renal cyst, facial dysmorphism without glaucoma, osteopenia or severe renal cystic diseases.
20 - 22 Sep 2014
European Society for Paediatric Endocrinology