<?xml version="1.0" encoding="ISO-8859-1"?><article xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance">
<front>
<journal-meta>
<journal-id>1561-2953</journal-id>
<journal-title><![CDATA[Revista Cubana de Endocrinología]]></journal-title>
<abbrev-journal-title><![CDATA[Rev Cubana Endocrinol]]></abbrev-journal-title>
<issn>1561-2953</issn>
<publisher>
<publisher-name><![CDATA[Editorial Ciencias Médicas]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S1561-29532022000100009</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Espectros clínicos y fisiopatológicos del síndrome de Bernardinelli Seip]]></article-title>
<article-title xml:lang="en"><![CDATA[Clinical and pathophysiological spectra of Bernardinelli Seip syndrome]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Milian Hernández]]></surname>
<given-names><![CDATA[Eduardo Josué]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Anzules Guerra]]></surname>
<given-names><![CDATA[Jazmín Beatriz]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Betancourt-Castellanos]]></surname>
<given-names><![CDATA[Liset]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Universidad Técnica de Manabí Facultad Ciencias de la Salud ]]></institution>
<addr-line><![CDATA[ Manabí]]></addr-line>
<country>Ecuador</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>04</month>
<year>2022</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>04</month>
<year>2022</year>
</pub-date>
<volume>33</volume>
<numero>1</numero>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://scielo.sld.cu/scielo.php?script=sci_arttext&amp;pid=S1561-29532022000100009&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.sld.cu/scielo.php?script=sci_abstract&amp;pid=S1561-29532022000100009&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.sld.cu/scielo.php?script=sci_pdf&amp;pid=S1561-29532022000100009&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[RESUMEN  Introducción:  La lipodistrofia congénita de Berardinelli-Seip es un síndrome genético autosómico recesivo, caracterizado por la ausencia generalizada del tejido adiposo, el déficit de leptina y las alteraciones metabólicas incluidas la resistencia a la insulina, la esteatohepatitis y la hipertrigliceridemia.  Objetivo:  Definir los diferentes espectros clínicos y fisiopatológicos del síndrome y su relación con el fenotipo definiendo las estrategias terapéuticas actuales.  Métodos:  Se realizó una búsqueda bibliográfica no sistemática en las bases de datos Science Direct, EMBASE, LILACS, Redalyc, SciELO y PubMed. Los criterios de inclusión fueron publicaciones en inglés, portugués o español, en las que el título y las palabras clave, abordaban el tema planteado con una vigencia de 10 años. Se obtuvieron 50 artículos relacionados con el síndrome, de los cuales 30 fueron seleccionados para su revisión.  Conclusiones:  El diagnóstico de la enfermedad es principalmente clínico. Se establece en presencia de tres criterios mayores o la combinación de dos mayores con dos menores y/o por la identificación de variantes patogénicas por medio del estudio genético y molecular. La dieta y el ejercicio conjuntamente con la administración de la metreleptina son pilares fundamentales en el manejo de estos pacientes. El reconocimiento temprano del síndrome es esencial para prevenir las complicaciones, y brindar asesoría genética y reproductiva a los pacientes y familiares.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[ABSTRACT  Introduction: Berardinelli-Seip congenital lipodystrophy is an autosomal recessive genetic syndrome, characterized by the general absence of adipose tissue, leptin deficiency and metabolic alterations including insulin resistance, steatohepatitis and hypertriglyceridemia.  Objective:  To present the different clinical and pathophysiological spectra of the syndrome, its relationship with the phenotype, defining the current therapeutic strategies.  Methods:  A non-systematic bibliographic search was carried out in Science Direct, EMBASE, LILACS, Redalyc, SciELO and PubMed databases. The inclusion criteria were publications in English, Portuguese and Spanish, in which the title and keywords included information pertinent to the stated objective with a periodicity of 10 years, 50 articles were retrieved, and 30 of them were selected.  Conclusions:  The diagnosis of the disease is mainly clinical. It is established in the presence of three major criteria or the combination of two major and two minor criteria and/or by the identification of pathogenic variants through genetic and molecular studies. Diet and exercise together with the administration of metreleptin are fundamental pillars in the management of these patients. Early recognition of the syndrome is essential to prevent complications, allowing genetic and reproductive counseling to be provided to patients and their families.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[lipodistrofia generalizada congénita]]></kwd>
<kwd lng="es"><![CDATA[síndrome metabólico]]></kwd>
<kwd lng="es"><![CDATA[resistencia a la insulina]]></kwd>
<kwd lng="es"><![CDATA[leptina]]></kwd>
<kwd lng="es"><![CDATA[hiperfagia]]></kwd>
<kwd lng="es"><![CDATA[adipocitos]]></kwd>
<kwd lng="en"><![CDATA[congenital generalized lipodystrophy]]></kwd>
<kwd lng="en"><![CDATA[metabolic syndrome]]></kwd>
<kwd lng="en"><![CDATA[insulin resistance]]></kwd>
<kwd lng="en"><![CDATA[leptin]]></kwd>
<kwd lng="en"><![CDATA[hyperphagia]]></kwd>
<kwd lng="en"><![CDATA[adipocytes]]></kwd>
</kwd-group>
</article-meta>
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