J Clin Res Pediatr Endocrinol. Ahead of Print: JCRPE-44127 | DOI: 10.4274/jcrpe.galenos.2022.2021-12-19

Neonatal Diabetes, Congenital Hypothyroidism, and Congenital Glaucoma Coexistence: A Case of GLIS3 Mutation

Emre Sarýkaya¹, Mustafa Kendirci¹, Mikail Demir², Munis Dündar^2
1Department of Pediatric Endocrinology, Erciyes University, School of Medicine, Kayseri, Turkey
²Department of Medical Genetics, Erciyes University, School of Medicine, Kayseri, Turkey

Neonatal diabetes and congenital hypothyroidism syndrome (NDH) is a rare condition caused by homozygous or compound heterozygous mutations in the GLIS3 gene. Small for gestational age (SGA), congenital glaucoma, polycystic kidney disease, cholestatic hepatic fibrosis, pancreatic exocrine insufficiency, developmental delay, dysmorphic facial features, sensorineural deafness, osteopenia, and skeletal anomalies are other accompanying phenotypic features in 22 cases described so far. We present a male case with neonatal diabetes, congenital hypothyroidism, congenital glaucoma, developmental delay, and facial dysmorphic features. During the patient's 17-year follow-up, no signs of exocrine pancreatic insufficiency, liver and kidney diseases, deafness, osteopenia, and bone fracture were observed. A homozygous exon 10-11 deletion was detected in the GLIS3 gene. We report one of the oldest surviving GLIS3 mutation case with main findings of neonatal diabetes and congenital hypothyroidism syndrome to contribute to the characterization of the genotypic and phenotypic spectra of the syndrome.

Keywords: GLIS3, neonatal diabetes, congenital hypothyroidism, congenital glaucoma.

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