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Transient Hyperinsulinemic Hypoglycemia Linked to PAX6 Mutation

Prolonged hyperinsulinemic hypoglycemia in infancy can result in developmental sequelae. A mutation in the paired box-6 gene (PAX6) has been reported to cause disorders in oculogenesis and neurogenesis. A limited number of cases of diabetes mellitus in adults with a PAX6 mutation suggest that the ge...

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Autores principales: Kim, Jee-Min, Kim, Seul-Ki, Kim, Shin-Hee, Cho, Won-Kyoung, Cho, Kyoung-Soon, Jung, Min-Ho, Suh, Byung-Kyu, Ahn, Moon-Bae
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8227506/
https://www.ncbi.nlm.nih.gov/pubmed/34200146
http://dx.doi.org/10.3390/medicina57060582
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author Kim, Jee-Min
Kim, Seul-Ki
Kim, Shin-Hee
Cho, Won-Kyoung
Cho, Kyoung-Soon
Jung, Min-Ho
Suh, Byung-Kyu
Ahn, Moon-Bae
author_facet Kim, Jee-Min
Kim, Seul-Ki
Kim, Shin-Hee
Cho, Won-Kyoung
Cho, Kyoung-Soon
Jung, Min-Ho
Suh, Byung-Kyu
Ahn, Moon-Bae
author_sort Kim, Jee-Min
collection PubMed
description Prolonged hyperinsulinemic hypoglycemia in infancy can result in developmental sequelae. A mutation in the paired box-6 gene (PAX6) has been reported to cause disorders in oculogenesis and neurogenesis. A limited number of cases of diabetes mellitus in adults with a PAX6 mutation suggest that the gene also plays a role in glucose homeostasis. The present case report describes a boy with a PAX6 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 PAX6 to glucose homeostasis and highlights that life-threatening hypoglycemia or early onset glucose intolerance may be encountered. The role of PAX6 in glucose metabolism and insulin regulation should be further investigated.
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spelling pubmed-82275062021-06-26 Transient Hyperinsulinemic Hypoglycemia Linked to PAX6 Mutation Kim, Jee-Min Kim, Seul-Ki Kim, Shin-Hee Cho, Won-Kyoung Cho, Kyoung-Soon Jung, Min-Ho Suh, Byung-Kyu Ahn, Moon-Bae Medicina (Kaunas) Case Report Prolonged hyperinsulinemic hypoglycemia in infancy can result in developmental sequelae. A mutation in the paired box-6 gene (PAX6) has been reported to cause disorders in oculogenesis and neurogenesis. A limited number of cases of diabetes mellitus in adults with a PAX6 mutation suggest that the gene also plays a role in glucose homeostasis. The present case report describes a boy with a PAX6 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 PAX6 to glucose homeostasis and highlights that life-threatening hypoglycemia or early onset glucose intolerance may be encountered. The role of PAX6 in glucose metabolism and insulin regulation should be further investigated. MDPI 2021-06-07 /pmc/articles/PMC8227506/ /pubmed/34200146 http://dx.doi.org/10.3390/medicina57060582 Text en © 2021 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Case Report
Kim, Jee-Min
Kim, Seul-Ki
Kim, Shin-Hee
Cho, Won-Kyoung
Cho, Kyoung-Soon
Jung, Min-Ho
Suh, Byung-Kyu
Ahn, Moon-Bae
Transient Hyperinsulinemic Hypoglycemia Linked to PAX6 Mutation
title Transient Hyperinsulinemic Hypoglycemia Linked to PAX6 Mutation
title_full Transient Hyperinsulinemic Hypoglycemia Linked to PAX6 Mutation
title_fullStr Transient Hyperinsulinemic Hypoglycemia Linked to PAX6 Mutation
title_full_unstemmed Transient Hyperinsulinemic Hypoglycemia Linked to PAX6 Mutation
title_short Transient Hyperinsulinemic Hypoglycemia Linked to PAX6 Mutation
title_sort transient hyperinsulinemic hypoglycemia linked to pax6 mutation
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8227506/
https://www.ncbi.nlm.nih.gov/pubmed/34200146
http://dx.doi.org/10.3390/medicina57060582
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