ESPE Abstracts (2014) 82 P-D-2-3-341

A Rare Cause of Obesity and Type 2 Diabetes: a Novel Alms1 Mutation in Two Siblings with Alstrom Syndrome

Suna Hancilia, Ayla Güvena, Süheyla Apaydinb, Aylin Ardagilc & Diana Valverde Perezd

aGöztepe Education and Research Hospital, Pediatric Endocrinology Clinic, Istanbul, Turkey; bHaydarpasa Numune Education and Research Hospital, Nephrology Clinic, Istanbul, Turkey; cDepartment of Ophthalmology, Göztepe Education and Research Hospital, Istanbul, Turkey; dDepartamento de Bioquímica, Genética e Inmunología, Facultad de Biología, Universidad de Vigo, spain, Spain

Introduction: Alström syndrome is a rare autosomal recessive disorder characterized by type 2 diabetes, early-onset obesity, hypogonadism, dyslipidemia, progressive retinal degeneration, sensorineural hearing loss, cardiomyopathy and renal failure.

Case Report 1: A 13 years-old girl consulted because of high blood glucose (442 mg/dl). HbA1c was 8.9%, C-peptide was 4.5 g/dl, insulin was 17.5 μU/ml, insulin antibodies were negative. The parents were consanguineous. She was overweight from infancy. One year ago acute rheumatic fever prophylaxis has been started due to cardiomyopathy. She had truncal obesity, acanthosis nigricans, photophobia, horizontal nystagmus and enophtalmia. Her weight was 69.2 kg (90–97p), height was 153 cm (10–25p), BMI was 29.5 kg/m2 (>95p), blood pressure was 120/70 mmHg. Puberty was Tanner stage 5. Subclinical hypothyroidism and hyperlipidemia were identified. Echocardiographic examination revealed cardiomyopathy. Rod-con dystrophy and bilateral sensorineural hearing loss were determined. In follow up, with menstrual irregularity clinical and laboratory investigation were consistent with polycystic ovary syndrome. Alström syndrome were considered with all these findings and learned that there were no obesity or diabetes in her family except her sister.

Case Report 2: Twenty-four year old female, whose sister was followed-up with the preliminary diagnosis of Alström syndrome was invited to our clinic. She had been followed with the diagnosis of obesity and type 2 diabetes for 4 years. She had hearing loss and visual impairment since the age of 12 and 1 years-old respectively. Genetic analysis proved a novel homozygous frameshift mutation p.(E754fs*755) in the eighth exon of the ALMS1 gene in both cases.

Conclusion: Alström syndrome is a rare cause of early-onset obesity, type 2 diabetes and accompanying various endocrine abnormalities. For this reason, Alström syndrome should be kept on mind in the differential diagnosis of the patients with obesity associated with cardiomyopathy, hearing loss and visual impairment.

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