Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2009 Nov;10(7):492-6.
doi: 10.1111/j.1399-5448.2009.00526.x. Epub 2009 Jun 3.

Neonatal diabetes mellitus with pancreatic agenesis in an infant with homozygous IPF-1 Pro63fsX60 mutation

Inas H Thomas  1 , Natinder K Saini, Amita Adhikari, Joyce M Lee, Josephine Z Kasa-Vubu, Delia M Vazquez, Ram K Menon, Ming Chen, Stefan S Fajans
Affiliations
Case Reports

Neonatal diabetes mellitus with pancreatic agenesis in an infant with homozygous IPF-1 Pro63fsX60 mutation

Inas H Thomas et al. Pediatr Diabetes. 2009 Nov.

Abstract

Permanent neonatal diabetes mellitus is a rare disorder known to be caused by activating mutations in KCNJ11 or ABCC8, inactivating mutations in INS, or very rarely in GCK or insulin promotor factor-1 (IPF-1) genes. We report a patient with permanent neonatal diabetes mellitus and severe exocrine pancreatic insufficiency. Ultrasound examination revealed pancreatic agenesis with a suggestion of a small amount of tissue in the head of the pancreas. Genetic testing revealed that the neonate had a homozygous Pro63fsX60 IPF-1 mutation. This is the second reported case of neonatal diabetes mellitus secondary to a homozygous mutation in the IPF-1 gene and supports the previously proposed biological role of IPF-1 in the pancreatic development in human.

PubMed Disclaimer

Figures

Figure 1:
Figure 1:
Our propositus’s height and weight growth charts
See this image and copyright information in PMC

References

    1. von Muhlendah KE and Herkenhoff H Long-Term Course of Neonatal Diabetes. N Engl J Med. 1995; 333:704–8. - PubMed
    1. Sperling MA. Neonatal diabetes mellitus: from understudy to center stage. Current Opinion in Pediatrics. 2005; 17:512–8. - PubMed
    1. Gloyn AL, Pearson ER, Antcliff JF, Proks P, Bruining GJ, Slingerland AS, et al. Activating Mutations in the Gene Encoding the ATP-Sensitive Potassium-Channel Subunit Kir6.2 and Permanent Neonatal Diabetes. N Engl J Med. 2004; 350:1838–49. - PubMed
    1. Stoffers DA, Zinkin NT, Stanojevic V, Clarke WL and Habener JF. Pancreatic agenesis attributable to a single nucleotide deletion in the human IPF1 gene coding sequence. Nat Genet. 1997; 15:106–10. - PubMed
    1. Njolstad PR, Sovik O, Cuesta-Munoz A, Bjorkhaug L, Massa O, Barbetti F, et al. Neonatal Diabetes Mellitus Due to Complete Glucokinase Deficiency. N Engl J Med. 2001; 344:1588–92. - PubMed

Publication types

MeSH terms