ESPE Abstracts

Objectives: Prader–Willi syndrome (PWS) is the most common genetic obesity disorder and results from lack of gene expression on paternally inherited chromosome 15q11.2-q13. We aim ed to delineate endocrinopathy in PWS patients during long-term follow up.

Methods: A total of 71 patients with PWS were enrolled retrospectively from July 2009 to March 2020. Diagnoses were based on the clinical and genetic testing.

Results: The number of men and women was 41 (57%) and 30 (43%), respectively. The deletion type was 54 (76%), the UPD was 17 (24%), and the average age was 11±4.4 years. Hypogonadism was identified in 8 (32%) patients over the age of 12, and 6 (75%) of them received HRT. Hypercholesterolemia was accompanied in 30 (42.2%), and hyperTGemia in 36 (50.7%). Of these, 4% required statin medication. Of the 33 patients over 10 years of age, the incidence of type II DM was confirmed in 10 (30.3%), and 20% of them did not require diabetes drugs. Of the 55 patients over 5 years of age, central precocious puberty was concomitant in 6 (11%). Hypothyroidism was concomitant in a total of 4 patients (6%). Of a total of 71 patients, 60 (84.5%) received GH therapy, and of the 13 patients over 18 years of age, 6 (46.1%) were diagnosed with adult GH deficiency and 3 (23.1%) had osteoporosis. adrenal gland dysfunction was not observed in those tested in 49 PWS patients. The comparison of variables between those with deletion(n = 54) and UPD(n = 17) showed no difference in terms of endocrine features.

Conclusion: This study brings it together to shed new light on these endocrine features of PWS, supporting clinicians in optimizing follow-up.