Abstract
GATA6 syndrome is an unusual genetic disorder that presents complications during pregnancy, congenital heart defects, neonatal diabetes, and severe pancreatic dysfunction. The cause of the syndrome is a de novo mutation in the GATA6 gene, located on chromosome 18. We present the case of a patient who exhibited congenital heart defects and severe hyperglycemia from the neonatal period, caused by pancreatic agenesis. The diagnosis was established based on molecular genetic analyses. Insulin and pancreatic enzyme replacement therapy provide a favorable prognosis in pancreatic agenesis, significantly reducing neonatal mortality associated with this drastic diagnosis.
Published Version
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