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Abstract #100297 Published in IGR 23-1
Neonatal Diabetes, Congenital Hypothyroidism, and Congenital Glaucoma Coexistence: A Case of Mutation
Sarıkaya E; Kendirci M; Demir M; Dündar MJournal of clinical research in pediatric endocrinology 2023; 15: 426-430
Neonatal diabetes and congenital hypothyroidism syndrome (NDH) is a rare condition caused by homozygous or compound heterozygous mutations in the 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 gene. We report one of the oldest surviving 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.
Department of Pediatric Endocrinology, Erciyes University, School of Medicine, Kayseri, Turkey.
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