Table 1.
Demographic, Clinical, and Biochemical Characteristics and Pharmacological Treatment at the Time of the SEARCH Study Visit of Youth Screened for MODY by Genetically Defined MODY Status and MODY Type
| Total Sample Screened (n = 586) |
Positive for MODY by Genetic Testing (n = 47) |
||||
|---|---|---|---|---|---|
| MODY− (n = 539) | MODY+ (n = 47) | HNF1A-MODY (n = 26) | HNF4A-MODY (n = 7) | GCK-MODY (n = 14) | |
| Demographic characteristics | |||||
| Male gender | 41% | 38% | 27% | 50% | 54% |
| Race/ethnicity | |||||
| Non-Hispanic white | 33% | 36% | 31% | 50% | 38% |
| African American | 34% | 20% | 23% | 0% | 23% |
| Hispanic | 23% | 31% | 35% | 17% | 31% |
| Asian/Pacific Islander | 9% | 11% | 8% | 33% | 8% |
| Other/unknown | 1% | 2% | 4% | 0% | 0% |
| Clinical/biochemical characteristics ascertained at the time of the SEARCH study visit | |||||
| Age at diagnosis, y | 13.3 ± 3.1a | 11.5 ± 3.9 | 12.2 ± 3.0 | 11.4 ± 5.2 | 10.2 ± 4.7 |
| Age at the research visit, y | 15.2 ± 3.2 | 13.6 ± 3.4 | 13.7 ± 2.9 | 15.8 ± 3.8 | 12.3 ± 3.7 |
| Diabetes duration, y | 1.6 ± 1.8 | 1.3 ± 1.7 | 1.2 ± 1.1 | 2.1 ± 3.1 | 1.1 ± 1.8 |
| Parental history of diabetes, % | 51% | 50% | 52% | 71% | 30% |
| A1c, % | 7.5 ± 2.2 | 6.8 ± 1.5 | 6.9 ± 1.7 | 7.3 ± 1.4 | 6.4 ± 0.4 |
| Weight, kg | 88.2 ± 31.4a | 65.5 ± 29.6 | 70.4 ± 27.8 | 69.0 ± 29.1 | 53.9 ± 32.5 |
| Height, m | 1.64 ± 0.14a | 1.57 ± 0.18 | 1.60 ± 0.17 | 1.64 ± 0.15 | 1.48 ± 0.18 |
| BMI, kg/m2 | 32.4 ± 10.3a | 25.4 ± 7.5 | 26.7 ± 6.8 | 25.2 ± 8.0 | 22.8 ± 8.4 |
| BMI Z-score | 1.8 ± 1.0a | 1.2 ± 1.0 | 1.5 ± 0.9 | 0.8 ± 1.4 | 0.9 ± 1.1 |
| Waist circumference, cm | 103.0 ± 25.1a | 84.9 ± 19.2 | 89.9 ± 18.6 | 78.8 ± 12.4 | 76.6 ± 20.5 |
| Fasting C-peptide, ng/mL | 3.2 ± 2.1a | 2.2 ± 1.4 | 2.3 ± 1.2 | 2.1 ± 1.4 | 2.1 ± 1.8 |
| Fasting C-peptide, ng/mL, adjusted by zBMI (±SE) | 3.2 ± 0.1 | 2.8 ± 0.3 | 2.1 ± 0.2 | 2.4 ± 0.5 | 2.4 ± 0.3 |
| hsCRP, mg/dLb | 0.45 ± 1.01a | 0.15 ± 0.22 | 0.09 ± 0.11 | 0.07 ± 0.10 | 0.26 ± 0.32 |
| hsCRP, mg/dL, adjusted by zBMI (±SE)b | 0.43 ± 0.05 | 0.24 ± .19 | 0.06 ± 0.05c | 0.09 ± 0.11 | 0.29 ± 0.07 |
| IS index | 5.4 ± 3.4a | 8.6 ± 4.0 | 7.3 ± 3.6 | 9.8 ± 2.8 | 10.7 ± 4.2 |
| IS index, adjusted by zBMI, gender, and age at the time of the SEARCH study visit (±SE) | 5.6 ± 0.1a | 6.5 ± 0.3 | 8.5 ± 0.4 | 8.9 ± 0.8 | 9.2 ± 0.5 |
| Birth weight, kg | 3.3 ± 0.7 | 3.1 ± 0.9 | 3.1 ± 1.0 | 3.2 ± 0.3 | 3.2 ± 0.5 |
| Hypertension, % | 17% | 9% | 8% | 33% | 0% |
| Elevated triglycerides, % | 30% | 20% | 27% | 17% | 8% |
| Dyslipidemia, % | 73% | 60% | 69% | 67% | 38% |
| Acanthosis nigricans, % | 61%a | 40% | 50% | 33% | 23% |
| Susceptible HLA, %c | 12%c | 2% | 4% | 0% | 0% |
| Pharmacological treatment at the time of the SEARCH study visit | |||||
| Treated with insulin, % | 61% | 51% | 58% | 67% | 27% |
| Insulin dose, U/kg · dd | 0.57 ± 0.40 | 0.47 ± 0.30 | 0.49 ± 0.33 | 0.61 ± 0.20 | 0.14 ± 0.03 |
| Treated with OHA, % | 61% | 51% | 65% | 50% | 23% |
| Sulfonylurea, % | 5% | 5% | 8%e | 0%e | 0% |
| Metformin, % | 51% | 41% | 48% | 50% | 23% |
| Other/unknown OHA, % | 14% | 13% | 18% | 0% | 0% |
| No pharmacological treatment, % | 10% | 19% | 8% | 0% | 55%e |
Abbreviation: OHA, oral hypoglycemic agent. Data are percentage or mean ± SD (or ±SE for adjusted measures). Hypertension is the systolic or diastolic blood pressure greater than the 95th percentile for age, sex, and height (32); elevated triglycerides are fasting triglycerides greater than 150 mg/dL; dyslipidemia is triglycerides greater than 150 mg/dL, low-density lipoprotein greater than 100 mg/dL, high-density lipoprotein less than 35 mg/dL, or taking lipid-lowering medication; and susceptible HLA is HLA types predisposing to type 1 diabetes, as defined in Materials and Methods. Some HNF1A-MODY and HNF4A-MODY patients were treated with both insulin and an oral glucose-lowering agent.
P < 0.01; MODY− compared with all MODY+ combined.
Data were available on a subset of participants (334 MODY−, 27 MODY+, 14 HNF1A-MODY, 3 HNF4A-MODY, and 10 GCK-MODY).
P < .05.
Insulin dosage information available for 261 of 586 youth in the cohort.
Appropriate clinical treatment for each MODY subtype.