Table 1.
Clinical characteristics for the 220 patients with diazoxide responsive hyperinsulinemic hypoglycemia.
| Total cohort | HNF4A mutation positive | KATPchannel positive | GLUD1 mutation positive | GCK mutation positive | Unknown etiology | |
|---|---|---|---|---|---|---|
| Number of patients | 220 | 11 | 33 | 13 | 2 | 161 |
| Age at diagnosis | 1 week (1 day–24 weeks) | 1 day (1–2 days) | 4 days (1 day–4 weeks) | 24 weeks (5 days–30 weeks) | 9 years (3–15 years) | 1 week (1 day–26 weeks) |
| Birth weight (SDS) | +0.17 (−1.1±1.28) | +2.4 (+1.4±3.8) | +1.27 (−0.03±2.94) | −0.29 (−1.08±1.13) | +0.74 (−0.88±2.4) | −0.19 (−1.2±0.97) |
Data are provided for the total cohort and for probands grouped by their genetic etiology. Unless otherwise indicated, the data are represented by the median (interquartile range). SDS for birth weights were calculated by comparing with the data from Child Growth Foundation LMS (19).