Transient Hyperinsulinemic Hypoglycemia Linked to <i>PAX6</i> Mutation
Prolonged hyperinsulinemic hypoglycemia in infancy can result in developmental sequelae. A mutation in the paired box-6 gene (<i>PAX6</i>) has been reported to cause disorders in oculogenesis and neurogenesis. A limited number of cases of diabetes mellitus in adults with a <i>PAX6&...
| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
MDPI AG
2021-06-01
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| Series: | Medicina |
| Subjects: | |
| Online Access: | https://www.mdpi.com/1648-9144/57/6/582 |
| Summary: | Prolonged hyperinsulinemic hypoglycemia in infancy can result in developmental sequelae. A mutation in the paired box-6 gene (<i>PAX6</i>) has been reported to cause disorders in oculogenesis and neurogenesis. A limited number of cases of diabetes mellitus in adults with a <i>PAX6</i> mutation suggest that the gene also plays a role in glucose homeostasis. The present case report describes a boy with a <i>PAX6</i> mutation, born with anophthalmia, who underwent hypoglycemic seizures starting at 5 months old, and showed a prediabetic condition at 60 months. This patient provides novel evidence that connects <i>PAX6</i> to glucose homeostasis and highlights that life-threatening hypoglycemia or early onset glucose intolerance may be encountered. The role of <i>PAX6</i> in glucose metabolism and insulin regulation should be further investigated. |
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| ISSN: | 1010-660X 1648-9144 |