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Review
. 2017 Oct;6(4):274-285.
doi: 10.21037/tp.2017.09.04.

Review of Prader-Willi syndrome: the endocrine approach

Ryan Heksch  1 , Manmohan Kamboj  1 , Kathryn Anglin  1 , Kathryn Obrynba  1
Affiliations
Review

Review of Prader-Willi syndrome: the endocrine approach

Ryan Heksch et al. Transl Pediatr. 2017 Oct.

Abstract

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 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.

Keywords: Endocrinology; Prader-Willi syndrome (PWS); review.

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Conflict of interest statement

Conflicts of Interest: The authors have no conflicts of interest to declare.

Figures

Figure 1
Figure 1
Algorithm for growth hormone treatment in PWS. PSG, polysomnography; SDB, sleep disordered breathing; ENT, otolaryngology; T&A, tonsillectomy and adenoidectomy; SCFE, slipped capital femoral epiphysis; PWS, Prader-Willi syndrome; GH, growth hormone.
See this image and copyright information in PMC

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