ISSN: 1308-5727 | E-ISSN: 1308-5735
Volume: 15 Issue: 4 Year: 2023
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Turkish Society for Pediatric Endocrinology and Diabetes
Neonatal Diabetes, Congenital Hypothyroidism, and Congenital Glaucoma Coexistence: A Case of <i>GLIS3</i> Mutation [J Clin Res Pediatr Endocrinol]
J Clin Res Pediatr Endocrinol. 2023; 15(4): 426-430 | DOI: 10.4274/jcrpe.galenos.2022.2021-12-19

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

Emre Sarıkaya1, Mustafa Kendirci1, Mikail Demir2, Munis Dündar2
1Erciyes University Faculty of Medicine, Department of Pediatric Endocrinology, Kayseri, Turkey
2Erciyes University Faculty of Medicine, Department of Medical Genetics, Kayseri, Turkey

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.

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

Emre Sarıkaya, Mustafa Kendirci, Mikail Demir, Munis Dündar. Neonatal Diabetes, Congenital Hypothyroidism, and Congenital Glaucoma Coexistence: A Case of GLIS3 Mutation. J Clin Res Pediatr Endocrinol. 2023; 15(4): 426-430

Corresponding Author: Emre Sarıkaya, Türkiye
Manuscript Language: English
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