Endocrine Abstracts

Introduction: Prader Willi syndrome is a rare and complex genetic disease, with numerous implications on metabolic, endocrine, neurologic systems, with behavior and intellectual difficulties. Many patients with PWS manifest short stature due to growth hormone deficiency. These individuals also present with hypothalamic dysfunction, leading to several endocrinopathies such as hypogonadism, hypothyroidism, central adrenal insufficiency, with reduced bone mineral density. Our case illustrates the value of early genetic diagnosis.

Observation: A 21-year-old patient, diagnosed since the age of 12 with prader willi syndrome, presented with impubirism and severe statural retardation. Investigations revealed GH deficiency, hypogonadotropic hypogonadism complicated by severe osteoporosis and central hypothyroidism. The patient was substituted by l thyroxine and testosterone.

Discussion and conclusion : Prader-Willi syndrome is a complex genetic disorder caused by lack of expression of the paternally inherited chromosome 15q11-q13. Previous epidemiologic studies have estimated the incidence of PWS from 1 in 10, 000 to 1 in 30, 000 live births disorder It is characterized by hypothalamic-pituitary deficiency, severe neonatal hypotonia, early-onset hyperphagia, hypogonadism, mental retardation and morbid obesity, sometimes complicated by diabetes. Children diagnosed with Prader-Willi syndrome should receive GH treatment from 3 to 6 months of age. Several clinical guidelines recommend that thyroid function be assessed at the time of diagnosis of Prader-Willi syndrome, and once a year thereafter. Confirmation of the disease is necessary for early management of endocrinological manifestations, in particular early GH supplementation. Proper management of PWS patients requires a multidisciplinary team approach. It is important for pediatric endocrinologists to be aware of the recommendations for screening and monitoring of variou.