Table 2.
Congenital Generalized Lipodystrophy diagnosis criteria.
Major criteria |
Insulin resistance |
Loss of subcutaneous fat affecting both trunk and limbs |
Acromegaloid features |
Hepatomegaly |
Hypertriglyceridemia |
Minor criteria |
Early onset of puberty in females |
Mental retardation |
Hypertrophic cardiomyopathy |
Hypertrichosis |
Prominent veins |
Bone cysts |
Diagnosis |
Presence of 3 major criteria OR 2 Major with ≥2 Minor criteria AND/OR Identification of mutation on CGL linked genes |