Table 2. Clinical characteristics of patients with proven and probable monogenic neonatal diabetes and probable T1D.
Neonatal diabetes patients with unknown etiology (NDMX) were categorized into probable T1D and probable monogenic neonatal diabetes by T1D genetic risk score equivalent to 50th centile of T1D cohort. Fisher’s exact test was used to compare proportions and Mann-Whitney test was used to compare continuous variables.
| Proven Monogenic NDM<6m | Probable Monogenic NDM< 6 m (T1D-GRS≤50th T1D centile) | Probable T1D< 6 months (T1D-GRS>50th T1D centile) | P value (proven monogenic vs probable monogenic) | P value (proven monogenic vs probable T1D) | |
|---|---|---|---|---|---|
| n=194 | n=27 | n=21 | |||
| T1D-GRS, Median (IQR) | 0.231 (0.206-0.251) | 0.237 (0.210-0.250) | 0.299 (0.295-0.313) | 0.86 | <0.001 |
| Age at diagnosis in weeks, median (IQR) | 5 (1-12) | 1 (0.6-6) | 12 (3-20) | 0.13 | 0.04 |
| Male, n (%) | 111 (57) | 17 (63) | 15 (71) | 0.68 | 0.25 |
| Presence of other autoimmune disorders, n (%) | 1 (1) | 1 (4) | 3 (14) | 0.23 | 0.003 |
| Syndromic presentation, n (%) | 77 (40) | 9 (33) | 2 (10) | 0.67 | 0.007 |
| Consanguineous parents, n (%) | 3 (2) | 0 | 0 | 1.00 | 1.00 |