Table 1.
Features of the DS-PNDM cohort
| Patient | Sex | Ethnicity | Maternal age at birth (years) | Patient current age | Birth weight z scorea | Age at diabetes diagnosis | Treatment | HbA1c, % (mmol/L)b | Autoantibodies tested | Autoantibody status | Diabetes duration at antibody testing | T1D-GRS (centile of T1D)c | HLA DR genotyped | Other conditions |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | Male | Caucasian | ND | 23 years | −0.79 | 7 weeks | Insulin | 9.5 (80) | ND | ND | NA | 0.37 (0.1) | DRB1*15/X | Hypothyroidism, ASD |
| 2 | Female | Hispanic | ND | 14 years | −3.99 | 1 week | Insulin | 8.1 (65) | ND | ND | NA | 0.70 (53.5) | DR4/DR4 | Hypothyroidism, hearing and vision problems |
| 3 | Male | Caucasian | 33 | 1 years | −1.02 | 2 days | Insulin | ND | GADA, IA-2A, ZnT8A | Negative | 1 week | 0.69 (48.2) | DR3/DR3 | Tetralogy of Fallot, macroglossia |
| 4 | Male | Caucasian | ND | 28 years | ND | 3 months | Insulin | 8.5 (69) | GADA, IA-2A, ZnT8A | GADA positive | 10 years | 0.52 (2.5) | X/X | Seizures |
| 5 | Male | Arabic | 37 | 1 years | ND | 4 months | Insulin | 8.8 (73) | GADA, IA-2A, ZnT8A | GADA positive | 4 months | 0.66 (33.9) | DR3/DR3 | — |
| 6 | Male | Hispanic | 40 | 9 months | −2.65 | 2 weeks | Insulin | 5.7 (39) | GADA, IA-2A, ZnT8A | Negative | 2 months | 0.64 (25.4) | DR4/X | Subclinical hypothyroidism, macroglossia, cardiac malformation |
| 7 | Male | Mixed (East Asian/ Caucasian) | 43 | 20 years | 0.80 | 3 days | Insulin | 8.8 (73) | GADA | GADA positive | 8 years | 0.63 (20.6) | DR3/X | Hypothyroidism, celiac disease exocrine insufficiency |
| 8 | Male | Arabic | ND | 9 years | −1.23 | 8 weeks | Insulin | 9.3 (78) | GADA, IA-2A | GADA positive | 5 years | 0.37 (0.1) | DRB1*15/X | Macroglossia |
| 9 | Female | Turkish | ND | 15 years | ND | 3 weeks | Insulin | 8.1 (65) | GADA, IA-2A | Negative | 1 day | 0.61 (14.3) | DR3/X | Hypothyroidism |
| 10 | Female | Hispanic | ND | Died aged 7 months | −3.30 | 3 days | Insulin | 6.6 (49) | ND | ND | NA | 0.49 (0.9) | DR4/DRB1*15 | — |
| 11 | Male | Caucasian | 35 | 6 years | −0.84 | 1 day | Insulin | 6.6 (49) | GADA, IA-2A, ZnT8A | Negative | 5 months | 0.48 (0.8) | DR3/DRB1*15 | Transient hypothyroidism, VSD |
| 12 | Male | Caucasian | ND | 17 years | 0.19 | 18 days | Insulin | 9.8 (84) | ND | ND | ND | 0.69 (48.2) | DR4/X | Seizures, hypothyroidism, frequent infections (low IgM), hepatic abscess |
| 13 | Male | Caucasian | ND | 1 year | −1.85 | Birth | Insulin | 7.0 (53) | GADA, ZnT8A | Negative | ND | 0.68 (44.5) | DR4/DR4 | Hyperthyroidism, bowel obstruction, speech and vision problems |
ASD, atrial septal defect; NA, not applicable; ND, no data; VSD, ventral septal defect.
az score adjusted for sex and gestational age.
bLatest HbA1c reported by clinician.
cT1D-GRS based on top 10 risk alleles; centile of T1D refers to the centile of the T1D control population that this score corresponds with.
dX denotes any HLA DR haplotype other than DR3, DR4, or DRB1*15.