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Submitted: 22 June 2015 Modified: 01 February 2017
HERDIN Record #: NCR-JAFES-1506220622486

McCune-Albright Syndrome with Hypophosphatemic Rickets

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Fibrous dysplasia (FD) is sometimes accompanied by extraskeleteal manifestations that can include any combination of café-au-lait macules, hyperfunctioning endocrinopathies, such as gonadotropin-independent precocious puberty, hyperthyroidism, growth hormone excess, FGF23-mediated renal phosphate wasting, and/or Cushing's syndrome, as well as other less common features. The combination of any of these findings, with or without FD, is known as McCune-Albright syndrome (MAS). The broad spectrum of involved tissues and the unpredicatble combination of findings is because of a molecular defect due to dominant activating mutations in the widely expressed signalling protein Gsα. These mutations arise sporadically, often early in development, prior to gastrulation and can distribute across many or few tissues.1,2


We present a case of a 33 1/2-year-old-girl who presented simultaneously with precocious puberty and hypophosphatemic rickets, along with fibrous dysplasia and café-au-lait macules.

Publication Type
Journal
Publication Sub Type
Case report
Title
Journal of the ASEAN Federation of Endocrine Societies
Publication Date
May 2015
Volume
30
Issue
1
Page(s)
40-43
LocationLocation CodeAvailable FormatAvailability
http://www.asean-endocrinejournal.org (632) 6373162 Fulltext External Link (View)
Philippine Council for Health Research and Development Fulltext External Link (View)
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9. Bhadada, S K, Bhansali, A , Das, A , Singh, R , Sen, R , Agarwal, A . "Fibrous dysplasia and McCune-Albright syndrome: An experience from a tertiary care centre in north India" India J Med Res 133(5): 504-9, 2011
10. Lietman, S A, Ding, C , Levine, M A. "A highly sensitive polymerase chain reaction method detects activating mutations of the GNAS gene in peripheral blood cells in McCune-Albright syndrome or isolated fibrous dysplasia" J Bone Joint Surg Am 87(11): 2489-94, 2005
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Citation

1. McCune-Albright Sysndrome with Hypophosphatemic Rickets.

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