Table 2.
Clinical information for patients with Rabson–Mendenhall/Donohue syndrome
| Patient | Age at diagnosis (years)/sex | Fasting serum insulin at diagnosis (μU/mL) | HbA1c at diagnosis (%) | Birthweight (g) | Age at survey (years) | BMI at survey (kg/m2) | HbA1c at survey (%) | Therapy for diabetes at survey | INSR mutation |
|---|---|---|---|---|---|---|---|---|---|
| 152 | 0/M | 8,038 | 2.8 | 1,440 | 7 | 14.3 | 10.3 | Metformin, basal insulin, rhIGF‐1 | Thr937Met heterozygous,Ala1204Thr heterozygous |
| 243 | 0/F | 1,070 | 7.1 | 1,234 | Died at 17 months | NA | 3.6 | Insulin, rhIGF‐1 | Ser98Arg homozygous |
| 3 | 0/M | NA | NA | 1,470 | Died at 3 years | NA | NA | Insulin, rhIGF‐1 | Val657Phe heterozygous, deletion including exon 2 † heterozygous |
| 453 | 0/F | NA | 6.5 | 2,736 | 26 | 20.3 | 8.1 | Metformin, α‐GI, DPP‐4i, insulin, rhIGF‐1 | Met910Thr heterozygous,1‐bp deletion in exon 19 † heterozygous |
| 5 | 0/M | 586.8 | NA | 1,814 | 18 | 21.2 | NA | Metformin, α‐GI, DPP‐4i SGLT‐2i, basal insulin (70 U), rhIGF‐1 | Cys981Asp heterozygous, Cys1126Asp heterozygous, Phe1144Ser heterozygous |
| 654 | 0/M | 6,702 | NA | 1,920 | 6 | 17.5 | 10.0 | Insulin, metformin, rhIGF‐1 | Thr910Met heterozygous,Glu1047Lys heterozygous |
| 755 | 0/F | 185 | 6.6 | 1,550 | 27 | 15.3 | 12.5 | Metformin, α‐GI, basal (240 U) and bolus (240 U) insulin | Arg1201Trp heterozygous, deletion including exons 4–6 † heterozygous |
| 8 | 0/F | 2,730 | 5.8 | NA | 10 | 14.9 | 7.6 | Insulin, metformin, rhIGF‐1 | Ile925Ser heterozygous |
| 956 | 0/F | 956.4 | 23 | 1,054 | Died at 3 months | 10.3 | NA | Insulin, rhIGF‐1 | ND |
| 10 | 0/M | NA | NA | 1,112 | Died at 3 months | NA | NA | Insulin, rhIGF‐1 | ND |
α‐GI, α‐glucosidase inhibitor; BMI, body mass index; DPP‐4i, dipeptidyl peptidase‐4 inhibitor; F, female; HbA1c, hemoglobin A1c; M, male; NA, information not available; ND, not determined; rhIGF‐1, recombinant human insulin‐like growth factor‐1; SGLT‐2i, sodium–glucose cotransporter‐2 inhibitor.
†
Detailed information not available.