Endocrine Abstracts

JOINT4022

Introduction: Prader-Willi syndrome (PWS) is a complex genetic disorder characterized by a set of phenotypic traits, which include infantile hypotonia, short stature, and morbid obesity. Hypothalamic disorders observed in patients with PWS are responsible for a variety of symptoms, including severe hyperphagia and endocrine disorders, such as growth hormone deficiency, hypothyroidism, hypothyroidism, and hypogonadotropic hypogonadism. Growth hormone (GH) deficiency is a common endocrine problem in PWS patients not only in childhood but also in adults. Recombinant human growth hormone (rhGH) therapy and hormonal replacement therapy, serves to achieve an ultimate height and compensate for metabolic abnormalities. Hormonal disorders diagnosed and treated in childhood require continuation and constant monitoring in adulthood. In some patients, hypothyroidism or adrenal insufficiency doesn’t appear until adulthood. Patients with PWS require constant multidisciplinary care, including an endocrinologist.

Aim: The aim of the study was to assess the metabolic and hormonal profile of young adults with PWS. Additionally, we compared patients treated with GH since childhood with PWS never treated with growth hormone.

Material and Methods: This study including 52 young adults with PWS, 25 woman and 27 men. The average age of patients is 23 years (man) and 24 years (women). PWS patients were divided into two groups: treated with growth hormone since childhood (37 patients) and not treated with GH (15 patients). Body weight, BMI and percentage of body fat were assessed in all patients. Fasting glucose and insulin levels, lipid profile and hormone levels were assessed and statistically analysed comparing both groups. The GH treatment was monitored with IGF-1 serum levels.

Results: In all patients with PWS (100%) were diagnosed growth hormone deficiency and hypogonadism, requiring substitution treatment. Hypothyroidism was found in 68%, and adrenal axis impairment in 50% patients. The group of GH treated patients, had statistically lower body fat percentage and BMI degree and normal IGF-1 level in comparison to untreated group. HOMA-IR index was statistically lower in the GH-treated group. There were no differences in the incidence of hypothyroidism or adrenal insufficiency in both groups.

Conclusions: The main aim of PWS clinical management in adulthood is prevention of obesity and its comorbidities, treatment of hormonal disorders, mental health stabilization, nutritional guidance, as well as on-going physiotherapy. Integrated multidisciplinary therapeutic interventions, including endocrine ones are necessary if patients with such a complex genetic condition as PWS are to not only achieving average life expectancy, but also to enjoy higher quality of life.