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

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Sarıkaya E., Kendirci M., Demir M., DÜNDAR M.

JCRPE Journal of Clinical Research in Pediatric Endocrinology, vol.15, no.4, pp.426-430, 2023 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 15 Issue: 4
  • Publication Date: 2023
  • Doi Number: 10.4274/jcrpe.galenos.2022.2021-12-19
  • Journal Name: JCRPE Journal of Clinical Research in Pediatric Endocrinology
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, CINAHL, MEDLINE, Directory of Open Access Journals, TR DİZİN (ULAKBİM)
  • Page Numbers: pp.426-430
  • Keywords: congenital glaucoma, congenital hypothyroidism, GLIS3, neonatal diabetes
  • Erciyes University Affiliated: Yes


Neonatal diabetes and congenital hypothyroidism (CH) syndrome is a rare condition caused by homozygous or compound heterozygous mutations in the GLIS3 gene. Small for gestational age, 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 the 22 cases described so far. We present a male patient with neonatal diabetes, CH, congenital glaucoma, developmental delay, and facial dysmorphism. 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 CH syndrome to contribute to the characterization of the genotypic and phenotypic spectra of the syndrome.