Table 1

Details of diabetes diagnosis by mutation subtype

KCNJ11/ABCC8*INS/EIF2AK3*6q24*FOXP3/IL2RA*GATA6/PDX1*Unknown (likely T1D)*Total*P value
Number of participants, n (%)41 (46.6)13 (14.8)10 (11.4)3 (3.4)2 (2.3)19 (21.6)88 (100)
Current age, years9.5 (5.2–14)5.3 (2.5–8.6)3.7 (1.4–5.4)3.3 (3.2–6.6)3.2 (2.2–4.2)10.9 (6.7–17.9)7.7 (4.1–14.0)
Age at diagnosis, weeks9.6 (6.1–18.3)10 (6.1–17.4)0.4 (0–0.9)14.8 (0–22.2)9.1 (0–18.3)42.6 (37.4–50.4)10.4 (5.2–26.5)<0.001
Glucose, mg/dL716.5 (563–870)435 (319–625)408 (300–502)920 (342–1,600)411 (355–467)736 (526–840)618 (477–800)<0.001
pH§7.07 (6.87–7.26)7.41 (7.4–7.43)7.43 (7.39–7.46)6.95 (6.9–7.0)7.11 (6.9–7.31)7.08 (7.0–7.27)7.08 (6.98–7.31)0.02
Bicarbonate, mmol/L6.0 (4.6–11.0)16.4 (15.0–25.0)21.1 (20.0–21.8)13.0 (6.0–20.0)16.0 (7.0–25.0)5.0 (4.0–10.4)7.0 (5.0–18.8)0.005
HbA1c, % [mmol/mol]12.0 [108] (9.3–13.6) ([78–125])9.9 [85] (8.5–10.9) ([69–96])NA4.9 [30]NA8.8 [73] (6.9–9.8) ([52–84])9.9 [85] (8.3–12.2) ([67–110])0.04
DKA, n (%)#26 (78.8)3 (30)0 (0)3 (100)1 (50)14 (87.5)47 (66.2)<0.001
  • All data presented as median (interquartile range) unless otherwise specified. T1D, type 1 diabetes; NA, not available.

  • *In most cases, the mutation subtype was not reported in the medical record but rather was available for each case through the Monogenic Diabetes Registry data. Mutation subtypes were grouped according to functional similarities. All participants in the “Unknown” category did not have an identifiable monogenic cause of diabetes at the time of data analysis. Some of these participants had positive diabetes autoantibodies, and thus likely had autoimmune type 1 diabetes. “Total” category represents pooled participants.

  • †Statistically significant by Wilcoxon rank sum test, Kruskal-Wallis test, or Fisher exact test. Because of limited sample sizes, pairwise comparisons were not performed.

  • ‡Data available from 73 participants.

  • §Data available from 49 participants.

  • ‖Data available from 58 participants.

  • ¶Data available from 27 participants; HbA1c <6 months are underestimated owing to fetal hemoglobin.

  • #Data available from 71 participants.