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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...

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Autores principales: Boddu, Praveen Kumar, Velumula, Pradeep Kumar, Sharif, Saima, Monika, Bajaj
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2022
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.
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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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