Table 1.
Clinical features in our patients and previously reported patients with similar mutations.
| Clinical features | Case1 | Case2 | Turkish patient | Czech patient |
|---|---|---|---|---|
| AGPAT2 mutation | p.Glu229* | p.Glu172Lys | p.Glu172Lys | p.Glu172Lys |
| Gender | Male | Male | Male | Male |
| Generalized lipodystrophy | + | + | + | + |
| Muscle hypertrophy | + | + | + | + |
| Hypercholesterolemia | + | + | + | + |
| Hypertriglyceridemia | + | + | + | + |
| Diabetes | − | − | + | + |
| Raised insulin levels | − | − | + | + |
| Hepatomegaly | + | + | + | + |
| Splenomegaly | + | − | + | − |
| Acromegaloid features | + | + | + | + |
| Large ears | + | + | + | − |
| Macrogenitalia | + | + | + | − |
| Inguinal hernia | + | − | − | − |
| Nephropathy | + | − | − | − |
| Urine bladder calculus | + | − | − | − |
| Hydronephrosis | − | + | − | − |
| Gastroesophageal acid reflux | − | − | + | − |
| Hypertension | − | − | + | − |
| Anemia | − | − | + | − |
| Acanthosis nigricans | − | − | − | + |
| Hirsutism | − | − | − | + |
| Voice hoarseness | − | − | − | + |
| Joint contractures | − | − | − | + |
| Cardiomyopathy | − | − | − | + |
| Periorbital hyperpigmentation | − | − | − | + |
| Mental Retardation | − | − | − | − |
| Seizures | − | − | − | − |