Monogenic Insulin Resistance Syndromes
| IR syndrome subtype | Gene (inheritance) | Leptin | Adiponectin | Other clinical features | |
| Primary insulin signaling defects | Receptor defect | INSR (AR or AD) | Decreased | Normal or elevated | No dyslipidemia or hepatic stetosis |
| Post receptor defects | AKT2, TBC1D4 (AD) | Elevated fasting triglycerides and LDL‐cholesterol, hepatic steatosis, diabetes (AKT2) | |||
| Adipose tissue abnormalities | Monogenic obesity | MC4R (AD)
LEP, LEPR, POMC (AR) Others |
Increased (low in LEP) | Tall stature (MC4R)
Hypogonadism (LEP) Hypoadrenalism (POMC) |
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| Congenital generalized lipodystrophy | AGPAT2, BSCL2 (AR)
Others |
Decreased | Decreased | Severe dyslipidemia (high triglycerides, low HDL‐ cholesterol)
Hepatic stetosis |
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| Partial lipodystrophy | LMNA, PPARG, PIK3R1 (AD)
Others |
Variable | Myopathy and cardiomyopathy (LMNA)
Pseudo‐acromegaly (PPARG) SHORT syndrome with partial lipodystrophy, and diabetes (PIK3R1) |
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| Complex syndromes | Alström | ALMS1 (AR) | Cone‐rod dystrophy leading to blindness, sensorineural hearing loss, diabetes and cardiomyopathy | ||
| Bardet‐Biedl | BBS1 to BBS18 (mostly AR) | Cone‐rod dystrophy, obesity, renal dysfunction, polydactyly, learning disabilities, hypogonadism and diabetes | |||
| DNA damage repair disorders | WRN (AR)
BLM (AR) |
Scleroderma‐like skin changes, cataracts, increased cancer risk, atherosclerosis and diabetes;
Sun‐sensitive, telangiectatic skin changes; increased cancer risk and diabetes |
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| Primordial dwarfism | PCNT (AR) | Microcephalic osteodysplastic primordial dwarfism and diabetes | |||