ESPE Abstracts

Objective and hypotheses: To describe the morphological characteristics of patients with Prader-Willi Syndrome (SPW) who have been followed in a Pediatric Endocrinology Outpatient Clinic.

Method: We performed a retrospective study on 51 patients evaluating the age of diagnosis, genetic mutation, use of GH (rhGH), age of beginning of follow-up, and z-score of weight, height and BMI. Data on their first and latest visit to our clinic were compared.

Results: 51 patients were analysed, and the mean diagnosis age was 3.43 (±3.28) years old. The mean age of their first appointment was 4.95 (±4.26) years old and the average time of follow up was 6.45 (±5.24) years. The mean z-BMI at the beginning and at the latest visit was 2.26 (±2.61 S.D.) and 2.97 (±1.58 S.D.) respectively. At the latest visit, their mean age was 11.3 (±6.31) years old and the mean height was z−1.41 (±1.52 S.D.). Eighteen patients have never used rhGH, 15 had it irregularly and 18 regularly for more than 2 years. Genetic diagnosis: 17 of the patients have chromosome deletion, 14 have maternal uniparental disomy. Nineteen patients did only the methylation test.

Discussion: Despite the early diagnosis of PWS, it is noteworthy the delay between the diagnosis and the start of follow-up, postponing the measures to minimize the weight gain. An adequate coping since the time of diagnosis could introduce the basic concept of the disease in order to avoid obesity and raise adherence to accomplish diet restriction and effective rhGH treatment.

Conclusion: SPW is a rare disease that needs specialized attention and a multidisciplinary team struggling to minimise the deleterious effects of obesity, which is the cause of bad quality of life and early death in these patients.