Endocrine Abstracts

JOINT3546

Backgroud: Prader–Willi syndrome (PWS) is a rare disorder due to the absent expression of paternally active genes in chromosome 15. The mutation results in altered hypothalamus development and function, which impairs satiety, numerous hormonal deficits, changes in slee microstructure and other comorbidities.

Aims: We report a case of Prader-Willi syndrome over a period of 22 years between 2002 and 2024.

Case history: The first visit to the endocrinologist was on the second year of patient`s life. Both testes were undescended. Gonadotropin treatment was suggested but with no result, so orchiopexy of undescended testes was performed at the age of 3. Since early childhood patient had excessive weight that gradually increased, insatiable appetite, facial features of Prader–Willi syndrome that were confirmed by genetic analysis at the age of 8 (microdeletion 15q11-q13). He was treated by lifestyle intervention, his family was very motivated. And at the age of 14 he began to receive testosterone replacement for hypogonadism and small genitalia. At 24 years patient`s weight was 118 kg, height 170 cm, BMI 40 kg/m². At that time diabetes mellitus was diagnosed HbA1c 12.2%, C peptide 2,34 (0,367-1,47). During short period of basis-bolus insulin therapy his appetite remarkably increased and he gained 15 kg. Abdominal ultrasound imaging revieled nonspecific hepatomegaly. The therapy was changed to glyclasidi, metformin, basal insulin and glucagon-like peptide-1 (GLP-1). And a successful rapid weight reduction and decline of HbA1c 7.42% was received. The patient had normal thyroid status TSH 1.41 but decreased IGF–1 level 115,2 (130-295). Brain magnetic resonance imaging was unremarkable. Growth hormone therapy (GHT) is known to improve body composition, height and body mass index, improve cognitive function and long-term health-related quality of life. On the other hand literature represents the cases of patients with Prader-Willi syndrome worsening snoring during growth hormone therapy. And respiratory failure is the leading cause of mortality in individuals with PWS, making early diagnosis and the treatment of respiratory problems crucial for their survival. Our patient had demonstrated obstructive sleep apnea and excessive daytime sleepiness. Possible adverse effects of GHT on the respiratory system limited our ability of GHT implementation in patient.

Conclusion: Using consensus diagnostic criteria for PWS 1993, our patient fulfilled clinical diagnosis. Glucagon-like peptide-1 was effective in treating hyperphagia, weight reduction and as glucose lowering agent. Further investigations on GHT effect on the respiratory system is needed.