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Table 1 Main characteristics at diabetes diagnosis in 249 patients with monogenic diabetes according to genetic subtype

From: Next-generation sequencing identifies monogenic diabetes in 16% of patients with late adolescence/adult-onset diabetes selected on a clinical basis: a cross-sectional analysis

  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%)
  1. 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
  2. BMI body mass index
  3. aSymptoms of diabetes: polyuria and/or unexplained body weight loss and/or diabetic ketoacidosis