Endocrine Abstracts

Introduction: In Prader-Willi Syndrome (PWS), multidisciplinary evaluation is recommended both prior to GH initiation and at regular intervals during treatment.

Methods: We reviewed the changes in GH use and the investigations performed prior and during GH therapy, in 58 children, from 2000 to 2017. International consensus recommendations were used as the gold standard of care. Data was analysed to compare four (2000–2004, 2005–2008, 2009–2012, 2013–2017) and two (2000–2012, 2013–2017) sets of years.

Results: An increasing number of children are attending the clinic each year (r 0.993, P<0.0001). Overall, 44 children (76%) received GH therapy. In 2013–2017, 39/48 children (81%) received GH, while 10/21 (48%), 10/26 (38%) and 17/42 (40%) received GH in 2000–2004, 2005–2008 and 2009–2013 respectively (P<0.0001). Median age at starting GH during 2013–2017 was 2.13 years (1.0, 10.4) and was lower than of those commenced GH during 2000–2004 [6.29 years (4.4, 7.9)], 2005–2008 [3.73 years (3.6, 5.6)] and 2009–2012 [(3.03 years (2.5, 7.0)] (P 0.025). Before commencing GH, 72% of children had a sleep study performed and this was significantly higher in 2013–2017 (96%) compared to 2000–2012 (42%) (P 0.001). Overall, 53% of children had a spine x-ray, and this was significantly higher in 2013–2017 (67%) compared to 2000–2012 (25%) (0.018). IGF1/GH provocation test was performed in 86%, stimulated cortisol in 58%, thyroid function in 69%, fasting insulin/glucose in 67% and bone age in 11%. During annual monitoring, sleep studies (50% vs 9%, P <0.0001), spine x-rays (64% vs 9%, P<0.0001), thyroid function tests (44% vs 25%, P 0.032), IGF1 (65% vs 42%, P 0.01) and HbA1c (33% vs none, P <0.0001) were performed more frequently in 2013–2017 compared to 2000–2012, while bone age (5% vs 42%, P<0.0001) was performed less frequently.

Discussion: Our PWS clinic has witnessed an increased number of children attending the service and an increase in number of those children on GH and at younger ages. Multidisciplinary assessments have improved but as yet have not been universally adopted.