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peroxisome proliferator activated receptor-gamma defect (PPARG defect)

Genetics: - autosomal dominant - defect is PPARG, loss of function Clinical manifestations: 1) severe insulin resistance & marked hypertension 2) obesity 3) familial partial lipodystrophy Complications: - susceptibility to colon cancer Management: - life style modification - antihypertensive agents - insulin-senzitizing agent(s): metformin

Related

peroxisome proliferator-activated receptor gamma; PPAR-gamma; nuclear receptor subfamily 1 group C member 3 (PPARG, NR1C3)

References

  1. Medical Knowledge Self Assessment Program (MKSAP) 15, 18. American College of Physicians, Philadelphia 2009, 2018.