The first case report of sulfonylurea use in a woman with permanent neonatal diabetes mellitus due to KCNJ11 mutation during a high-risk pregnancy

J Clin Endocrinol Metab. 2010 Aug;95(8):3599-604. doi: 10.1210/jc.2010-0096. Epub 2010 May 13.

Abstract

Sulfonylureas (SUs) were proven to be more effective than insulin in most Kir6.2 permanent neonatal diabetes mellitus (PNDM) patients. We report SU use during pregnancy in PNDM. A woman with the R201H Kir6.2 mutation became pregnant at the age of 37. The patient had been on glipizide 30 mg for 3 yr; her glycosylated hemoglobin level was 5.8%. She was diagnosed with chronic diabetes complications and a congenital defect of the urogenitary tract-a bicornuate uterus with septum. Because the effect of SU on fetal development is uncertain, she was switched to insulin after the pregnancy diagnosis; however, the subsequent glycemic control was unsatisfactory, with episodes of hyper- and hypoglycemia. Thus, in the second trimester, the patient was transferred to SU (glibenclamide, 40 mg), which resulted in stabilization of glycemic control; glycosylated hemoglobin in the third trimester was 5.8%. Prenatal genetic testing excluded the Kir6.2 R201H mutation in the fetus. A preterm cesarean delivery was carried out in the 35th week. The Apgar score of the newborn boy (weight, 3010 g; 75th percentile) was 8 at 1 min. He presented with hypoglycemia, transient tachypnea of the newborn, and hyperbilirubinemia. The recovery was uneventful. No birth defects were recorded. His development at the ninth month of life was normal. In summary, we show a high-risk pregnancy in long-term PNDM that despite perinatal complications ended with the birth of a healthy child. SUs, which seem to constitute an alternative to insulin during pregnancy in Kir6.2-related PNDM, were used during the conception period and most of the second and third trimesters.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Diabetes Mellitus, Type 1 / drug therapy*
  • Diabetes Mellitus, Type 1 / genetics
  • Female
  • Humans
  • Hypoglycemic Agents / therapeutic use
  • Potassium Channels, Inwardly Rectifying / genetics*
  • Pregnancy
  • Pregnancy in Diabetics / drug therapy*
  • Pregnancy in Diabetics / genetics
  • Pregnancy, High-Risk / genetics
  • Sulfonylurea Compounds / therapeutic use*

Substances

  • Hypoglycemic Agents
  • Kir6.2 channel
  • Potassium Channels, Inwardly Rectifying
  • Sulfonylurea Compounds