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<article xlink="http://www.w3.org/1999/xlink" dtd-version="1.0" article-type="allergy-and-immunology" lang="en">
  <front>
    <journal-meta>
      <journal-id journal-id-type="publisher">JOHS</journal-id>
      <journal-id journal-id-type="nlm-ta">Journ of Health Scien</journal-id>
      <journal-title-group>
        <journal-title>Journal of HealthCare Sciences</journal-title>
        <abbrev-journal-title abbrev-type="pubmed">Journ of Health Scien</abbrev-journal-title>
      </journal-title-group>
      <issn pub-type="ppub">2231-2196</issn>
      <issn pub-type="opub">0975-5241</issn>
      <publisher>
        <publisher-name>Radiance Research Academy</publisher-name>
      </publisher>
    </journal-meta>
    <article-meta>
      <article-id pub-id-type="publisher-id">337</article-id>
      <article-id pub-id-type="doi">http://dx.doi.org/10.52533/JOHS.2024.41216</article-id>
      <article-id pub-id-type="doi-url"/>
      <article-categories>
        <subj-group subj-group-type="heading">
          <subject>Allergy and Immunology</subject>
        </subj-group>
      </article-categories>
      <title-group>
        <article-title>Monogenic Diabetes: Genotype, Clinical Phenotype, and Treatment: A Narrative Review&#13;
</article-title>
      </title-group>
      <contrib-group>
        <contrib contrib-type="author">
          <name>
            <surname>Al-Malki</surname>
            <given-names>Sultan</given-names>
          </name>
        </contrib>
      </contrib-group>
      <pub-date pub-type="ppub">
        <day>19</day>
        <month>12</month>
        <year>2024</year>
      </pub-date>
      <volume>4</volume>
      <issue>12</issue>
      <fpage>756</fpage>
      <lpage>771</lpage>
      <permissions>
        <copyright-statement>This article is copyright of Popeye Publishing, 2009</copyright-statement>
        <copyright-year>2009</copyright-year>
        <license license-type="open-access" href="http://creativecommons.org/licenses/by/4.0/">
          <license-p>This is an open-access article distributed under the terms of the Creative Commons Attribution (CC BY 4.0) Licence. You may share and adapt the material, but must give appropriate credit to the source, provide a link to the licence, and indicate if changes were made.</license-p>
        </license>
      </permissions>
      <abstract>
        <p>Monogenic Diabetes (MD) refers to a rare and newly identified type of diabetes caused by a defect in a single gene. This condition is marked by persistent hyperglycemia resulting from genetic defects passed down through families in various inheritance patterns, including Mendelian inheritance (dominant, recessive), or non-Mendelian inheritance (mitochondrial inheritance). Additionally, MD can also arise from new mutations that occur for the first time in an individual and are not inherited from either parent, known as de novo mutations. Monogenic forms of diabetes contribute to approximately 5% of pediatric diabetes cases. The etiology of MD involves two main mechanisms: one, multiple gene mutations that disrupt the formation or function of pancreatic __ampersandsignbeta;-cells, and two, defects in the insulin receptor that impair insulin action. These genetic abnormalities are primarily responsible for the clinical manifestation of diabetes in affected individuals. Despite its significance, there is a widespread lack of awareness about MD, leading to frequent misdiagnosis such as either type 1 or type 2 diabetes. This issue is exacerbated in regions with high rates of consanguinity, where monogenic diseases are more prevalent and require heightened clinical vigilance. Molecular genetic testing is the cornerstone of diagnosing MD, providing essential information for an accurate diagnosis, and enabling proper genetic counseling for affected families. This diagnostic approach is crucial for distinguishing MD from other types of diabetes, ensuring appropriate management and treatment tailored to the specific genetic mutation involved. This review incorporates a comprehensive literature analysis, based on data gathered from PubMed and Google Scholar. We will discuss the classification of MD, its genotypes and phenotypes, as well as treatment approaches for its various types. By highlighting these aspects, we hope to improve the recognition, diagnosis, and management of this rare form of diabetes.&#13;
</p>
      </abstract>
      <kwd-group>
        <kwd>Monogenic Diabetes mellitus</kwd>
        <kwd> maturity-onset diabetes of the young</kwd>
        <kwd> neonatal diabetes</kwd>
        <kwd> Diabetes</kwd>
        <kwd> Monogenic disease</kwd>
        <kwd> Genetic mutation</kwd>
      </kwd-group>
    </article-meta>
  </front>
</article>