%0 Journal Article
%T Review of Prader-Willi syndrome: the endocrine approach
%A Kathryn Anglin
%A Kathryn Obrynba
%A Manmohan Kamboj
%A Ryan Heksch
%J SCIE-indexed Journal
%D 2017
%X Prader-Willi syndrome (PWS) is a complex genetic disorder with implications on the endocrine and neurologic systems, metabolism, and behavior. The estimated prevalence of PWS is 1 in 10,000 to 30,000, with equal numbers of male and females affected. PWS results from lack of expression of the paternally-inherited genes on chromosome 15q11.2-q13 due to paternal deletion, maternal uniparental disomy, or imprinting defect of this region (1). Early in life, PWS is characterized by hypotonia and failure to thrive, followed by obesity and hyperphagia (2). Patients with PWS develop hypothalamic dysfunction which may lead to several endocrinopathies, including growth hormone deficiency (GHD), hypogonadism, hypothyroidism, central adrenal insufficiency (CAI), and poor bone mineral density (BMD). In addition to hypothalamic dysfunction and lack of satiety, individuals with PWS have lower resting energy expenditure. Thus, increased risk for obesity which may be complicated by metabolic syndrome and type 2 diabetes mellitus (T2DM) (3). Therefore, individuals with PWS require close management with an endocrinologist throughout their lifespan, from infancy to adulthood. At our institution, we utilize a multi-disciplinary approach to address the complex needs of PWS patients in which individuals see multiple specialists including genetics, neurology, psychology, and dietetics, with endocrinology at the forefront. In this paper, we review the current literature pertaining to the endocrine concerns of the infant, child, adolescent, and adult with PWS and current recommendations for screening and management of these conditions
%U http://tp.amegroups.com/article/view/16966/17483