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Review of Prader-Willi Syndrome: The Endocrine Approach (Transl Pediatr. 2017)

Home / Clinical Resources / Paper Review / Review of Prader-Willi Syndrome: The Endocrine Approach (Transl Pediatr. 2017)

Clinical Topic

  • Genetic Disorders
    • Prader Willi Syndrome

Resource Type

  • Paper Review

Publication Date

October 1, 2017

Resource Link

View This Resource

Prader-Willi syndrome (PWS) is a complex genetic disorder with implications on the endocrine and neurologic systems, metabolism, and behavior. Early in life, PWS is characterized by hypotonia and failure to thrive, followed by obesity and hyperphagia. Patients with PWS develop hypothalamic dysfunction which may lead to growth hormone deficiency (GHD), hypogonadism, hypothyroidism, adrenal insufficiency, and poor bone mineral density (BMD). In addition to hypothalamic dysfunction, individuals with PWS have increased risk for obesity which may be complicated by metabolic syndrome and type 2 diabetes mellitus (T2DM).

In this paper, we will review the current literature pertaining to the endocrine concerns of PWS and current recommendations for screening and management of these conditions.

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