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Alström Syndrome: A Rare Cause of Severe Insulin Resistance
Diabetes mellitus is one of the most common diseases worldwide and is a major cause of morbidity and mortality. Type 2 diabetes, with its hallmark being insulin resistance, constitutes the majority of cases. Although usually related to modifiable risk factors, insulin resistance can have genetic cau...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10578372/ https://www.ncbi.nlm.nih.gov/pubmed/37908279 http://dx.doi.org/10.1210/jcemcr/luac012 |
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author | Radi, Suhaib Binmahfooz, Saleh Nawar, Samah Malaikah, Hebah |
author_facet | Radi, Suhaib Binmahfooz, Saleh Nawar, Samah Malaikah, Hebah |
author_sort | Radi, Suhaib |
collection | PubMed |
description | Diabetes mellitus is one of the most common diseases worldwide and is a major cause of morbidity and mortality. Type 2 diabetes, with its hallmark being insulin resistance, constitutes the majority of cases. Although usually related to modifiable risk factors, insulin resistance can have genetic causes. Here, we present one of the rare causes of insulin resistance. A 21-year-old man, who was deaf and blind, presented with a 3-week history of polyuria and polydipsia. He was found to have significant hyperglycemia, managed initially with insulin infusion, then he was transitioned to subcutaneous injections. Because he required high doses of insulin and had acanthosis nigricans, insulin resistance was suspected. Putting together his insulin resistance and chronic history of syndromic features, Alström syndrome was considered. Genetic testing revealed a mutation in the ALMS1 gene. The patient was then started on insulin sensitizers with a tapering of insulin with good response. Insulin resistance should be suspected if the insulin requirement is high and if acanthosis nigricans is present. Alström syndrome is a rare causes of insulin resistance. Affected individuals will usually have insulin-resistant diabetes by a young age and associated blindness and deafness. Insulin sensitizers are an important part of the treatment. |
format | Online Article Text |
id | pubmed-10578372 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Oxford University Press |
record_format | MEDLINE/PubMed |
spelling | pubmed-105783722023-10-31 Alström Syndrome: A Rare Cause of Severe Insulin Resistance Radi, Suhaib Binmahfooz, Saleh Nawar, Samah Malaikah, Hebah JCEM Case Rep Case Report Diabetes mellitus is one of the most common diseases worldwide and is a major cause of morbidity and mortality. Type 2 diabetes, with its hallmark being insulin resistance, constitutes the majority of cases. Although usually related to modifiable risk factors, insulin resistance can have genetic causes. Here, we present one of the rare causes of insulin resistance. A 21-year-old man, who was deaf and blind, presented with a 3-week history of polyuria and polydipsia. He was found to have significant hyperglycemia, managed initially with insulin infusion, then he was transitioned to subcutaneous injections. Because he required high doses of insulin and had acanthosis nigricans, insulin resistance was suspected. Putting together his insulin resistance and chronic history of syndromic features, Alström syndrome was considered. Genetic testing revealed a mutation in the ALMS1 gene. The patient was then started on insulin sensitizers with a tapering of insulin with good response. Insulin resistance should be suspected if the insulin requirement is high and if acanthosis nigricans is present. Alström syndrome is a rare causes of insulin resistance. Affected individuals will usually have insulin-resistant diabetes by a young age and associated blindness and deafness. Insulin sensitizers are an important part of the treatment. Oxford University Press 2022-11-29 /pmc/articles/PMC10578372/ /pubmed/37908279 http://dx.doi.org/10.1210/jcemcr/luac012 Text en © The Author(s) 2022. Published by Oxford University Press on behalf of the Endocrine Society. https://creativecommons.org/licenses/by-nc/4.0/This is an Open Access article distributed under the terms of the Creative Commons Attribution-NonCommercial License (https://creativecommons.org/licenses/by-nc/4.0/), which permits non-commercial re-use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Case Report Radi, Suhaib Binmahfooz, Saleh Nawar, Samah Malaikah, Hebah Alström Syndrome: A Rare Cause of Severe Insulin Resistance |
title | Alström Syndrome: A Rare Cause of Severe Insulin Resistance |
title_full | Alström Syndrome: A Rare Cause of Severe Insulin Resistance |
title_fullStr | Alström Syndrome: A Rare Cause of Severe Insulin Resistance |
title_full_unstemmed | Alström Syndrome: A Rare Cause of Severe Insulin Resistance |
title_short | Alström Syndrome: A Rare Cause of Severe Insulin Resistance |
title_sort | alström syndrome: a rare cause of severe insulin resistance |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10578372/ https://www.ncbi.nlm.nih.gov/pubmed/37908279 http://dx.doi.org/10.1210/jcemcr/luac012 |
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