Table 2 Clinical characteristics of patients with RFX6-MODY
From: Heterozygous RFX6 protein truncating variants are associated with MODY with reduced penetrance
Characteristic | (n = 27) |
Age at diagnosis (years), median (IQR) | 32 (24–46) |
Duration of diabetes, median (IQR) | 10 (5–22) |
Female, n (%) | 22 (81%) |
BMI (kg/m2), median (IQR) | 25.1 (23–28) n = 22 |
Initial treatment, n (%) | |
Diet | 4 (15%) |
Oral hypoglycaemic agents | 14 (54%) |
Insulin | 5 (19%) |
Insulin + oral hypoglycaemic agents | 3 (12%) |
Current treatment, n (%) | |
Diet | 2 (8%) |
Oral hypoglycaemic agents | 6 (23%) |
Insulin | 12 (46%) |
Insulin + oral hypoglycaemic agents | 6 (23%) |
HbA1c at recruitment, mmol/mol, median (IQR) | 51 (45–70) n = 22 |
Significant endogenous insulin at recruitmenta, n (%) | 24 (96%) n = 25 |
