Endocrine Abstracts

Introduction: Werner’s Syndrome (WS) is a rare autosomal recessive adult onset progeroid disorder characterized by the early onset of aged-appearance and age related metabolic disorders. Patients usually develop normally until the 3rd decades of life.

Case report: We report a 27 years old female who admitted to our clinic at the age of 15 with hyperglycemia. She was diagnosed as diabetes and type 4 dyslipidemia at the age of 7 years. In her family history, her parents were first cousins and she had three healthy brothers.

At her first examination she had bird-like face appearance, short stature and she was overweight. She had global alopecia with gray and thin hair. Her voice was hoarse and hyperkeratosis of skin was present at dermatological examination. She had bilateral cataracts and moderate sensorineural hearing loss. At psychiatric examination she had borderline mental retardation.

She has got severe insulin resistance and hypertriglyceridemia despite therapy with insulin, levothyroxine, gemfibrozil and omega-3. Routine lipid apheresis has been performed to lower the triglyceride levels reaching 5256 mg/dl.

She also had focal segmental glomerulosclerosis, hepatosteatosis, osteoporosis and epilepsia. She had several congenital deformities like rathke’s cleft cyst, angiomyolipoma and femoral neck hypoplasia.

Discussion and conclusion: Werner’s syndrome may have very early onset and present with severe hypertriglyceridemia and multiple metabolic and congenital abnormalities.