Endocrine Abstracts

Introduction: Prader–Willi syndrome (PWS) is a genetic syndrome usually diagnosed in childhood. Its reported prevalence ranges from one in 8000 to one in 45 000 with geographical variation. Clinical manifestations include obesity, hyperphagia, short stature, incomplete sexual development, and cognitive disabilities. The majority of published data regarding PWS comes from paediatric populations.

Materials and methods: This is a retrospective observational study of adult patients with PWS performed in an Irish tertiary referral centre. We collected anthropometric measurements, hormonal data, results of genetic testing, and clinical data regarding co-morbid conditions, psychological, and social circumstances.

Results: Twenty-two adult patients (15 women) with a diagnosis of PWS were identified. The median age was 24.5 years. Median height and BMI was 154.3 cm and 41.7 kg/m² respectively. Eighteen of patients were assessed for GH deficiency (GHD), 15 using the insulin tolerance test. Sixteen (88.2% of the patients tested) had severe GHD. Fifteen received GH therapy. Height velocity was 4 cm in the first 6 months and 9 cm in the first year of therapy. Fifty percent of patients had evidence of obstructive sleep apnoea; 90.9% had spinal scoliosis; 81.8% had hypogonadism; and 50% of those who had a DXA scan had osteoporosis (n=5). Fifty percent of patients had abnormal blood pressure, 22% had lipid abnormalities and 13% had an abnormal HbA1c. 21/22 had learning disabilities, and 50% had associated psychiatric diagnoses. There was no difference in BMI, height, lipids, fasting glucose between GH treated and untreated patients. However the number of patients was small so this could be underpowered to detect a true difference.

Conclusion: Adult patients with PWS have multiple endocrine abnormalities and require careful follow up and management. Early diagnosis and management of endocrine manifestations will potentially improve health and developmental outcomes in adulthood.