ESPE Abstracts

Introduction: Alstrom syndrome is an autosomal recessive genetic disorder with mutation in the ALMS 2p12-13 gene and its characteristic features are: pigmented retinopathy, deafness, growth deficiency, obesity, metabolic syndrome, diabetes, thyroid dysfunction, nephropathy and cardiomyopathy.

Aim of the study: Evaluation of anthropometric parameters, thyroid function, carbohydrate metabolism and lipid profile in five patients with diagnosed Alstrom syndrome.

Material and methods: Data of five patients (4 male and 1 female) with genetic confirmation of the Alstrom syndrome hospitalized in the Department of Pediatrics, Diabetology and Endocrinology in Gdańsk, Poland were analyzed. The height, body weight, waist circumference, body mass index (BMI), blood pressure, puberty stage in Tanner scale and laboratory tests such as TSH, fT4, thyroid antibodies, lipid profile, diabetes antibodies, oral glucose tolerance test (OGTT) and thyroid and abdominal ultrasound were performed.

Results: The age of patients at the time of the study was between 4 years 9 months and 17 years. Body height in patients over 10 years was between 3rd-10th centile, in 4 year 9 months old patient it was between 90th-97th centile and in 7 years old patient it was over 97th centile. Body weight and BMI were between 90th and 97th centile in 3 patinets and in one it was over 97th centile. Waist circumference above the normal range was reported in 3 patients. Blood pressure was within the normal range in all patients. Laboratory euthyreosis was found in 3 patients, hypothyroidism requiring treatment in 2 patients. Dyslipidemia was diagnosed in 3 patients with low HDL cholesterol level. All patients had HbA1c levels within the normal range (5.2-5.6%). In OGTT, there was reported imparied glucose tolerance (IGT) in one patient and insulin resitance in 2 patients. In patient with IGT, positive anti-GAD antibodies were found. Thyroid ultrasound in all patients has showed normal thyroid images. In the abdominal ultrasound enlarged and fatty liver in 2 patients was found.

Conclusions: In patients with Alstrom syndrome obesity is very common and it may lead to complications such as IGT, lipid disorders and fatty liver disease. Patients with Alstrom syndrome could also aquire hypothyroidism and it is important to monitor their thyroid function as well.