Neonatal Diabetes, Congenital Hypothyroidism, and Congenital Glaucoma Coexistence: A Case of GLIS3 Mutation
Emre Sarıkaya, Mustafa Kendırcı, Mikail Demir, Munis Dündar
Abstract
What is already known on this topic? Neonatal diabetes and congenital hypothyroidism syndrome is a rare condition caused by homozygous or compound heterozygous mutations in the GLIS3 gene, with 22 patients reported so far. Small for gestational age (SGA) infant, congenital glaucoma, polycystic kidney disease, cholestatic hepatic fibrosis, pancreatic exocrine insufficiency, developmental delay, dysmorphic facial findings, sensorineural deafness, osteopenia, and skeletal anomalies are accompanying findings in these patients.
Topics & Concepts
MedicineHearing lossSensorineural hearing lossPediatricsOsteopeniaInternal medicineDiabetes mellitusEndocrinologyAudiologyBone mineralOsteoporosisPancreatic function and diabetesNeonatal Health and BiochemistryCongenital heart defects research