Metabolic Syndrome (MS) can be diagnosed from the age of 
10 years, when the coexistence of abdominal obesity, glucose 
metabolism disorders, dyslipidemia, and hypertension is 
observed. A binding part of MS is insulin resistance. Severe 
insulin resistance may be caused by a mutation in lamin 
(LMNA) gene. A teenager with MS due to mutation in 
LMNA gene is presented. 
A 17.5-yr-old Caucasian girl was admitted to the hospital 
with the suspicion of diabetes mellitus due to causal blood 
glucose 393 mg/dl (21.8 mmol/l), without typical diabetic 
symptoms. Since the age of 13 years she had been presented 
with excessive weight gain, hirsutism, and oligomenorrhoea. 
Her family history was positive for diabetes and partial 
lipodystrophy in three generations. Physical examination 
revealed abdominal obesity (waist-circumference 86 cm, 
BMI 27 kg/m2), android/cushingoidal habitus, acanthosis 
nigricans in axillae and neck, hirsutism, enlarged liver, and 
pseudohypertrophy of muscles of limbs with partial 
lipodystrophy. Based on oral glucose tolerance test diabetes 
was diagnosed (HOMA-IR 14). HbA1c was 9.2% (78 
mmol/mol). Diabetes autoantibodies were negative. Lab tests 
revealed also dyslipidemia (total cholesterol 6.42 mmol/l, 
triglicerydes 7.42 mmol/l, HDL cholesterol 0.73 mmol/l) and 
elevated liver enzymes. Ultrasonography revealed  steatosis  hepatis and polycystic ovaries. Genetic tests confirmed 
that she is a carrier of heterozygous missense mutation 
(c.1444C>T; R482W) in the LMNA gene. Lifestyle 
changes, metformin dosage 500 mg three times a day and 
ursodeoxycholic acid were introduced as her therapy. After 
4 months of this treatment HbA1c levels dropped 5.8% (40 
mmol/mol). Moreover an improvement of lipid profile, 
liver tests and 2 kg body weight loss were observed.  
Diabetes mellitus as a component of MS in a young obese 
patient should be diagnosed individually. When other non
typical for diabetes mellitus clinical signs and symptoms 
exist with positive, multigenerational family history, 
genetic causes of MS should be taken into consideration.