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<Articles><Article><Journal><PublisherName></PublisherName><JournalTitle>Journal of Diabetes and Metabolic Disorders</JournalTitle><Volume>6</Volume><Issue>0</Issue></Journal><ArticleTitle>THE FIRST REPORT OF LEPR MUTATION IN AN IRANIAN MORBID OBESE CHILD.</ArticleTitle><FirstPage>191</FirstPage><LastPage>191</LastPage><AuthorList><Author><FirstName>Nader</FirstName><LastName>Lessan</LastName></Author><Author><FirstName>Maryam</FirstName><LastName>Ghodsi</LastName></Author><Author><FirstName>Sadaf</FirstName><LastName>Farooqi</LastName></Author><Author><FirstName>Bagher</FirstName><LastName>Larijani</LastName></Author></AuthorList><History><PubDate PubStatus="received"><Year>2015</Year><Month>10</Month><Day>05</Day></PubDate></History><Abstract>It is estimated that up to 40-70% of&amp;nbsp;obesities is attributable to genetic factors.&amp;nbsp; Monogenic forms of obesity are uncommon.&amp;nbsp; We present the first such reported case in Iran.&amp;nbsp;The patient presented with a history of severe hyperphagia, rapid weight gain and recurrent infections.&amp;nbsp; He was born after a normal pregnancy in a highly consanguineous marriage.&amp;nbsp; His birth weight had been normal.&amp;nbsp; At age of 18 months he weighted 28 kg.&amp;nbsp; Apart from obesity and syndactyly of second/third digits in both feet there were no other abnormalities on physical examination.&amp;nbsp;&amp;nbsp;&amp;nbsp; His fasting serum leptin was 45 ng/ml.&amp;nbsp; Genotyping revealed 66-bp deletion in codon 514 of leptin receptor gene.
Unfortunately he developed another respiratory infection which was unresponsive to intensive treatment and died following a cardiorespiratory arrest. Genetic assessment is recommended in morbid obese patients especially those with a childhood onset.&amp;nbsp; Leptin receptor mutations can be associated with immune system deficiency and recurrent infections.</Abstract><web_url>https://jdmd.tums.ac.ir/index.php/jdmd/article/view/191</web_url></Article></Articles>
