Table 1.
Main characteristics at diabetes diagnosis in 249 patients with monogenic diabetes according to genetic subtype
| GCK | HNF1A | HNF4A | HNF1B | ABCC8 | KCNJ11 | INS | |
|---|---|---|---|---|---|---|---|
| N patients | 109 | 82 | 25 | 15 | 8 | 3 | 7 |
| Sex: F/M | 77/32 (71%) | 57/25 (70%) | 16/9 (64%) | 4/11 (27%) | 5/3 (63%) | 2/1 (67%) | 4/3 (57%) |
| EuroCaucasian/others (%) | 90/5 (95%) | 59/17 (78%) | 22/1 (96%) | 8/6 (57%) | 5/3 (63%) | 2/1 (67%) | 4/3 (57%) |
| Age (years) (n) | 24 [18–30] (109) | 22 [18.3–27] (82) | 26 [18–31] (25) | 27 [18–33.5] (15) | 31.5 [26.8–34.5] (8) | 21 [20.5–36] (3) | 22 [19–24] (7) |
| ≥ 3 generations with diabetes: yes/no (%) | 59/48 (55%) | 45/34 (57%) | 19/6 (76%) | 7/8 (47%) | 6/2 (75%) | 1/2 (33%) | 4/3 (57%) |
| BMI (kg/m2) (n) | 21.1 [19.9–22.9] (95) | 22 [20.1–23.8] (70) | 25.1 [22.8–27.6] (25) | 20.8 [19.1–23.7] (12) | 22.2 [21.4–22.8] (5) | 20.8 [20.4–25.1] (3) | 23.9 [23.3–28.4] (7) |
| BMI: normal/increased (%) | 85/10 (89%) | 60/11 (85%) | 11/14 (44%) | 10/2 (83%) | 4/1 (80%) | 2/1 (67%) | 4/3 (57%) |
| Symptoms of diabetesa: yes/no (%) | 4/99 (4%) | 14/63 (18%) | 4/20 (17%) | 11/4 (73%) | 1/6 (14%) | 1/2 (33%) | 1/6 (14%) |
| HbA1c (%) (n) | 6.4 [6.2–6.6] (69) | 7.9 [6.6–9.6] (45) | 8.0 [6.3–9.5] (17) | 10.3 [7.1–12.1] (9) | 8.0 [7.5–8.6] (5) | 7.4 [7.3–8.2] (3) | 9 [8.2–9.7] (6) |
| HbA1c (mmol/mol) (n) | 46 [44–49] (69) | 63 [49–81) (45) | 64 [45–80] (17) | 89 [54–109] (9) | 64 [58–70] (5) | 57 [56–66] (3) | 75 [66–83] (6) |
| Insulin therapy: yes/no (%) | 2/93 (2%) | 16/57 (22%) | 6/18 (25%) | 11/4 (73%) | 1/5 (17%) | 0/3 (0%) | 1/6 (14%) |
| Hypertension: yes/no (%) | 6/62 (9%) | 9/38 (19%) | 4/12 (25%) | 0/7 (0%) | 2/5 (29%) | 0/3 (0%) | 0/5 (0%) |
| Dyslipidemia: yes/no (%) | 7/52 (12%) | 5/37 (12%) | 4/12 (25%) | 2/5 (29%) | 3/2 (60%) | 0/2 (0%) | 2/3 (40%) |
Values are actual numbers with percentages into parentheses, or median with interquartile range into brackets and numbers of values into parentheses. Patients with class 4–5 variants, excluding 5 patients with digenism, and 10 with loss-of-function variants of the K-ATP channel
BMI body mass index
aSymptoms of diabetes: polyuria and/or unexplained body weight loss and/or diabetic ketoacidosis