Table 4.
Syndromic features in addition to the diabetes: insulin resistance
| Protein | Clinical picture | Median age at diagnosis in weeks (range) | Family history reflected by inheritance | Other clinical features | Other features/tests | Treatment | ||
|---|---|---|---|---|---|---|---|---|
| Acanthosis nigricans | Insulin levels | Androgen excess and hypertrichosis | ||||||
| Insulin receptor | Type A | Adolescence | Recessive (usually) | Insulin resistance in absence of obesity | Yes—marked | ↑↑↑ | ↑↑↑/PCO | (Metformin/glitazones) > insulin/pump |
| Insulin receptor | Rabson-Mendenhall | Congenital | Recessive (usually) | - Abnormal dentition | Yes—marked | ↑↑↑ | ↑↑/PCO | (Metformin/glitazones) > insulin/pump |
| - Extreme growth retardation | ||||||||
| Insulin receptor | Leprechaunism (Donahue syndrome) | Congenital | Recessive (usually) | - Abnormal facies | Yes—marked | ↑↑↑ | ↑↑↑/PCO | (Metformin/glitazones) > insulin/pump |
| - SGA and growth retardation | ||||||||
| - Large genitalia | ||||||||
| - Rarely survive infancy | ||||||||
| Seipin&AGPAT2 | Total lipodystrophy | Adolescence or congenital | Recessive | - Total loss of subcutaneous fat | Yes—may be marked | ↑↑ | ↑↑↑/PCO+/− | Recombinant /insulin |
| Lamin AC&PPARγ | Partial lipodystrophy | Dominant | - Partial loss of subcutaneous fat | Metformin > insulin | ||||