Table 1.
Characteristics of Patients With INSR Mutation
| Patient | Age, y | M/F | INSR Mutation, Location | Disease | HbA1c (%)a | DM | AN | Short Stature | Dysmorphic Featuresb | Nephrocalcinosis / Nephrolithiasis | Dyslipidemia |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | 20 | M | Homozygous, | RMS | 13.3 | Y | Y | Y | Y | Y | N |
| Ser635Leu | |||||||||||
| del exons 9 and 10 | |||||||||||
| 2 | 19.2 | F | Homozygous, | RMS | 12.9 | Y | Y | Y | Y | Y | N |
| Ile119Met | |||||||||||
| 3 | 18.4 | M | Homozygous, | RMS | 9.4 | Y | Y | N | N | Y | N |
| Tyr3X | |||||||||||
| Glu238Lys | |||||||||||
| 4 | 12.1 | M | Homozygous, | RMS | 10.8 | Y | Y | Y | Y | Y | N |
| Asn117Lys | |||||||||||
| del exon 3 | |||||||||||
| 5 | 6.8 | F | Homozygous, | RMS | 9.6 | Y | Y | Y | Y | Y | N |
| Cys293Arg | |||||||||||
| Gly142Asp | |||||||||||
| 6 | 22 | F | Heterozygous, | Type A IR | 5.1 | N | Y | Y | N | N | N |
| P1178L | |||||||||||
| 7 | 47.1 | M | Heterozygous, | Type A IR | 4.8 | N | Y | N | N | N | N |
| Val1029Gly | |||||||||||
| 8 | 12.1 | F | Heterozygous, | Type A IR | 9.2 | Y | Y | N | N | N | N |
| Pro1178Leu | |||||||||||
| 9 | 15 | F | Heterozygous, | Type A IR | 5.3 | N | Y | N | N | N | N |
| Pro1236Ala | |||||||||||
| 10 | 9.3 | F | Suspected heterozygous | Suspected type A IR | 5.9 | Y | Y | N | N | N | N |
| 11 | 15.4 | M | Heterozygous, | Type A IR | 7.2 | Y | Y | N | N | N | N |
| His1130Arg |
Abbreviations: AN, Acanthosis nigricans; DM, diabetes mellitus; F, female; IR, insulin resistance; M, male; N, no; RMS, Rabson– Mendenhall syndrome; Y, yes.
a
At the time of thyroid US.
b
Dysmorphic features included (but were not limited to) coarse face features, premature aging phenotype, prognathism, macroglossia, dental abnormalities such as premature dentition, macrodontia, and crowded/extra teeth.