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2017 ; 6
(4
): 274-285
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Review of Prader-Willi syndrome: the endocrine approach
#MMPMID29184809
Heksch R
; Kamboj M
; Anglin K
; Obrynba K
Transl Pediatr
2017[Oct]; 6
(4
): 274-285
PMID29184809
show ga
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.