Table 3 Clinical and endocrinological characteristics at diagnosis in 8 patients with clinical MODY
Subject No. | Molecular defect | Sex | Age at diagnosis (year) | Number of generations with DM | BMI | HbA1c,% | Serum C-peptide, ng/mL (0.48–3.3) | Presence of β-cell antibodies (Ab) | Microangiopathy | |
|---|---|---|---|---|---|---|---|---|---|---|
GAD Ab, U/mL (0–1) | Insulin Ab, % (0–7) | |||||||||
1 | HNF1B c.443C > T (p.S148L) | F | 14.6 | 0 | 19 | 6 | 0.58 | NA | NA | Nephropathy |
2 | ND | F | 11.8 | 3 | 21.8 | 8.7 | 4.4 | 0.1 | 4.4 | None |
3 | ND | M | 13 | 3 | 17.7 | 14.4 | 0.37 | < 0.1 | NA | None |
4 | ND | M | 18.5 | 0 | 18.4 | 7.7 | 1.4 | 1.1 | 6.6 | None |
5 | ND | F | 12.3 | 2 | 19.2 | 12.9 | 1.1 | 0.94 | 6.3 | None |
6 | ND | M | 12.3 | 3 | 20.4 | 9.5 | 2.4 | 0.41 | 6 | None |
7 | ND | M | 15.7 | 2 | 18 | 11.5 | 1.8 | 0.28 | 5.7 | None |
8 | ND | F | 9.4 | 3 | 19.6 | 6.7 | 5.7 | 1.1 | 5.1 | None |