ESPE Abstracts

Objective: Prader-Willi syndrome (PWS) is a complex genetic disease associated with hypothalamic-pituitary dysfunction, severe obesity and metabolic dysfunctions. The aim of this study was to describe endocrine and metabolic profiles in PWS children and young adults.We also investigated the differences in clinical outcomes according to genotype.

Methods: Data of 64 children and adults with genetically verified PWS aged more than 2 years old (36 male and 28 female, age 10.3±6.1 years) from single center were studied. The clinical characteristics and laboratory findings were reviewed retrospectively.

Results: Among 64 subjects, 49 had 15q11-13 deletion and 15 had uniparental disomy (UPD). Thirty-three (51.6%) were obese, 8(12.5%) had fatty liver. Nine (6.7%) patients had diabetes mellitus and 32 (50.0%) showed dyslipidemia. Fifty-six patients (87.5%) were treated with growth hormone. Standard deviation score of bone mineral density (BMD-SDS) was below -2 in 5 (16.7 %) patients. Scoliosis was present in 47 (73.4%). Central precocious puberty and hypogonadism were present in 12 (18.8%) and 8 (32.0%) patients, respectively. Patients with UPD had lower HbA1c and lower fasting blood glucose level than those with deletion (5.3 vs 6.0 %, P = 0.005 and 97.8 vs 133.3 mg/dl, P = 0.005, respectively)

Conclusions: Our report gives an overview of endocrine and metabolic dysfunctions recorded in Korean children and young adults with PWS. Careful monitoring and treatment of these conditions are required to improve health and quality of life of PWS patients.