Permanent neonatal diabetes mellitus in monozygotic twins achieving low-dose sulfonylurea therapy

Kelly A. Hicks, Jake A. Kushner, Rubina Heptulla, J. Nina Ham

Research output: Contribution to journalArticlepeer-review

2 Scopus citations


Although KCNJ11 mutations of the KATP channel within the β cell are known to prevent insulin secretion and cause permanent neonatal diabetes mellitus, the genotype-phenotype correlation continues to be of clinical interest. We report the clinical outcomes in monozygotic twins with neonatal diabetes due to heterozygous mutations in KCNJ11 at R201H. The twins demonstrated concordant clinical outcomes after transitioning from insulin to oral sulfonylurea therapy at 4 months of age. Both twins remained on sulfonylurea therapy while achieving similar growth, development, and metabolic goals. They exhibit marked sensitivity to sulfonylurea therapy with current dosing at 0.05 and 0.06 mg/kg per day at age 5 years which deviates from the approximate maintenance dose of 0.4 mg/kg per day at the time of transition and subsequent follow-up. Metabolic control provided by low-dose sulfonylurea therapy is likely due to early age at transition from insulin to sulfonylurea therapy and possible preservation of endogenous insulin secretion.

Original languageEnglish (US)
Pages (from-to)135-138
Number of pages4
JournalJournal of Pediatric Endocrinology and Metabolism
Issue number1-2
StatePublished - Jan 2014
Externally publishedYes


  • Diabetes mellitus
  • KCNJ11
  • Neonatal diabetes
  • Permanent neonatal diabetes
  • Sulfonylureas

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Endocrinology, Diabetes and Metabolism
  • Endocrinology


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