Introduction and aim: Prader-Willi syndrome(PWS), is a genetic disorder caused by the absence of paternal genes located on chromosome 15q11.2-q13. In this multi-central study; patients with PWS were followed for 2 years. Initial clinical and laboratory findings, growth hormone(GH) treatments and their responses were evaluated.
Patients and Methods: 54 patients from 10 pediatric endocrine centers were involved and data was evaluated retrospectively from the national data system. Complaints at admission, initial and follow up anthropometric measurements, thyroid and gonadal functions were noted. Clinical and laboratory findings of the patients who had growth hormone treatment and their responses were recorded.
Results: Fifty%(n=27) of the patients were boys. Mean age at admission was 2.7±3.2 years, 96,3%(n=52) of the patients were prepubertal. The most frequent complaint was hypotonia %55.6(n=30). Cryptorchidism and micropenis were observed in 66%(n=18) and 14,8%(n=4) of the boys. At admission mean height, weight and BMI SDS of the patients were −1.20±1.25, 0.4±2.26, and 1.08±2.58 respectively. Short stature was observed in 22,2%(n=12). BMI was >2SD in 44%(n=24), <-2SD in 16,7%(n=9). Age was positively correlated with BMI SDS (r=0,84, P<0,001). With increasing age obesity as a complaint at admission increased(P<0,019). With decreasing age poor nutrition as an initial complaint increased(P<0,035). Preterm delivery, SGA and LGA were reported in %16,7(n=9), 38.9 % (n=9), and 1,8%(n=1) of the patients. In all of the patients except 2, PWS was diagnosed genetically. Paternal microdeletion, uniparental disomy, and imprinting defects were detected in 64.8%(n=35), 11.1%(n=6), and 5.5%(n=3) of the patients. Fifteen %(n=8) of patients were diagnosed only by methylation abnormality. Central hypothyroidism, primary hypothyroidism, central adrenal insufficiency, hypogonadotropic and hypergonadotropic hypogonadism were observed in 28.3%(n=15), 11,3%(n=6), 3.7%(n=2), 3,7%(n=2), and 1,8 %(n=1) of the patients respectively. The most frequent behavioral problem was learning disability [55.8%(n=19)]. Scoliosis was the most observed skeleton problem [%22.2(n=12)]. Obstructive sleep apnea was reported in 42.6%(n=23). GH treatment was started in 46.2%(n=22) at the mean age of 4.72±2.7 years and with a mean dose of 0.025 ± 0.005 mg/day. After 1 year of treatment although there was no statistical difference in BMI SDS, height SDS(P<0,001) increased.
Conclusion: Clinical findings differ according to age. Feeding difficulties are observed in younger patients, obesity is observed in older children. Growth hormone treatment although increased height SDS it didn't effect BMI in one year. Longer growth hormone treatment durations are needed to draw definite conclusions.
19 - 21 Sep 2019
European Society for Paediatric Endocrinology