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A Neonate With Diabetes Mellitus, Congenital Hypothyroidism, and Congenital Glaucoma
Neonatal diabetes mellitus (NDM) is a rare condition with more than 20 monogenic genes associated with it. GLIS3 gene-encoded GLI similar protein 3, as a transcription factor, is involved in the development of the pancreas, liver, kidneys, eye, and thyroid. We report a preterm female neonate with co...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Cureus
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9595247/ https://www.ncbi.nlm.nih.gov/pubmed/36312692 http://dx.doi.org/10.7759/cureus.29488 |
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author | Boddu, Praveen Kumar Velumula, Pradeep Kumar Sharif, Saima Monika, Bajaj |
author_facet | Boddu, Praveen Kumar Velumula, Pradeep Kumar Sharif, Saima Monika, Bajaj |
author_sort | Boddu, Praveen Kumar |
collection | PubMed |
description | Neonatal diabetes mellitus (NDM) is a rare condition with more than 20 monogenic genes associated with it. GLIS3 gene-encoded GLI similar protein 3, as a transcription factor, is involved in the development of the pancreas, liver, kidneys, eye, and thyroid. We report a preterm female neonate with coarse facial features and hyperglycemia, later diagnosed with neonatal diabetes mellitus, congenital hypothyroidism (CH), congenital glaucoma (CG), and renal cysts, secondary to GLIS3 gene mutation. It is a rare genetic disorder involving multiple organ systems with progressive development of symptoms requiring long-term surveillance and management. |
format | Online Article Text |
id | pubmed-9595247 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Cureus |
record_format | MEDLINE/PubMed |
spelling | pubmed-95952472022-10-28 A Neonate With Diabetes Mellitus, Congenital Hypothyroidism, and Congenital Glaucoma Boddu, Praveen Kumar Velumula, Pradeep Kumar Sharif, Saima Monika, Bajaj Cureus Endocrinology/Diabetes/Metabolism Neonatal diabetes mellitus (NDM) is a rare condition with more than 20 monogenic genes associated with it. GLIS3 gene-encoded GLI similar protein 3, as a transcription factor, is involved in the development of the pancreas, liver, kidneys, eye, and thyroid. We report a preterm female neonate with coarse facial features and hyperglycemia, later diagnosed with neonatal diabetes mellitus, congenital hypothyroidism (CH), congenital glaucoma (CG), and renal cysts, secondary to GLIS3 gene mutation. It is a rare genetic disorder involving multiple organ systems with progressive development of symptoms requiring long-term surveillance and management. Cureus 2022-09-23 /pmc/articles/PMC9595247/ /pubmed/36312692 http://dx.doi.org/10.7759/cureus.29488 Text en Copyright © 2022, Boddu et al. https://creativecommons.org/licenses/by/3.0/This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. |
spellingShingle | Endocrinology/Diabetes/Metabolism Boddu, Praveen Kumar Velumula, Pradeep Kumar Sharif, Saima Monika, Bajaj A Neonate With Diabetes Mellitus, Congenital Hypothyroidism, and Congenital Glaucoma |
title | A Neonate With Diabetes Mellitus, Congenital Hypothyroidism, and Congenital Glaucoma |
title_full | A Neonate With Diabetes Mellitus, Congenital Hypothyroidism, and Congenital Glaucoma |
title_fullStr | A Neonate With Diabetes Mellitus, Congenital Hypothyroidism, and Congenital Glaucoma |
title_full_unstemmed | A Neonate With Diabetes Mellitus, Congenital Hypothyroidism, and Congenital Glaucoma |
title_short | A Neonate With Diabetes Mellitus, Congenital Hypothyroidism, and Congenital Glaucoma |
title_sort | neonate with diabetes mellitus, congenital hypothyroidism, and congenital glaucoma |
topic | Endocrinology/Diabetes/Metabolism |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9595247/ https://www.ncbi.nlm.nih.gov/pubmed/36312692 http://dx.doi.org/10.7759/cureus.29488 |
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