Abstract
BackgroundNeonatal diabetes mellitus with hyperglycemia during the first 6 months of life is a rare disorder that can occur in all races and societies.Case presentationIn this study, we introduced an Iranian (Persian) 65-day-old patient with neonatal diabetes mellitus with novel homozygous mutation in the pancreatic and duodenal homeobox 1, PDX1, gene, which is also known as IPF1 gene, located in exon 2. This case was a newborn boy born in Vali-Asr Hospital, Tehran; he was diagnosed as having hyperglycemia on 28th day. Genetic analysis detected a homozygous mutation on PDX1 gene on chromosome 13. It is a novel homozygous mutation in the PDX1 gene (NM_000209.3), p.Phe167Val. This mutation was confirmed by Sanger sequencing. There was no evidence of agenesis of the pancreas.ConclusionsWe reported a case of neonatal diabetes mellitus due to novel homozygous mutation in the PDX1 gene without exocrine pancreas manifestations.
Highlights
Neonatal diabetes mellitus (NDM) is a monogenic form of diabetes [1] that is characterized by hyperglycemia and the need for insulin treatment within the first 6 months of life [2]
Case presentation: In this study, we introduced an Iranian (Persian) 65-day-old patient with neonatal diabetes mellitus with novel homozygous mutation in the pancreatic and duodenal homeobox 1, PDX1, gene, which is known as IPF1 gene, located in exon 2
We reported a case of neonatal diabetes mellitus due to novel homozygous mutation in the PDX1 gene without exocrine pancreas manifestations
Summary
Neonatal diabetes mellitus (NDM) is a monogenic form of diabetes [1] that is characterized by hyperglycemia and the need for insulin treatment within the first 6 months of life [2]. The deficiency of insulin may cause the body to produce an excess of acid, resulting in a potentially life-threatening condition called ketoacidosis [3]. NDM can be divided into three subgroups: (i) transient NDM (TNDM) in which insulin secretion is spontaneously recovered by several months of age (at a median age of 3 month); (ii) permanent NDM (PNDM) requiring lifelong medication; and (iii) PNDM existing as part of a syndrome (syndromic NDM). This phenotypic classification is useful, as the most common causative genetic abnormalities differ by each subtype, overlap exists [1, 4]. For the first time, we reported the case of an Iranian patient with NDM with novel homozygous mutation in PDX1 (IPF1) gene located in exon 2
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