Early-onset, severe lipoatrophy in a patient with permanent neonatal diabetes mellitus secondary to a recessive mutation in the INS gene.

Rachmiel, Marianna; Rubio-Cabezas, Oscar; Ellard, Sian; Hattersley, Andrew T; Perlman, Kusiel

Rachmiel M, Rubio-Cabezas O, Ellard S, Hattersley AT, Perlman K. Early-onset, severe lipoatrophy in a patient with permanent neonatal diabetes mellitus secondary to a recessive mutation in the INS gene. We describe a case of neonatal diabetes due to a homozygous mutation (c.3 G>T) at the INS gene, leading to lack of insulin expression and severe hyperglycemia from day one of life requiring permanent insulin replacement therapy. The genetic loss of endogenous insulin production likely led to lack of immune tolerance to insulin, with resultant autoantibody production against exogenous insulin and progressive immune-mediated lipoatrophy at injection sites.

SKIN disease diagnosis; DNA; ADIPOSE tissues; AGE factors in disease; HUMAN body composition; CONSANGUINITY; DIABETES; PEOPLE with diabetes; GENEALOGY; GENES; GENETIC techniques; GLYCOSYLATED hemoglobin; HYPOGLYCEMIC agents; MOLECULAR biology; GENETIC mutation; PHYSIOLOGY

Pediatric Diabetes, 2012, Vol 13, Issue 6, pe26

1399-543X

Academic Journal

10.1111/j.1399-5448.2011.00809.x