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Noonan‐like syndrome with loose anagen hair associated with growth hormone insensitivity and atypical neurological manifestations
Author(s) -
Capalbo D.,
Melis D.,
De Martino L.,
Palamaro L.,
Riccomagno S.,
Bona G.,
Cordeddu V.,
Pignata C.,
Salerno M.
Publication year - 2012
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.35234
Subject(s) - noonan syndrome , short stature , missense mutation , endocrinology , medicine , growth hormone deficiency , growth hormone , hormone , biology , genetics , mutation , gene
Noonan‐like syndrome with loose anagen hair (NS/LAH; OMIM 607721), recently related to the invariant c.4A>G missense change in SHOC2 , is characterized by features reminiscent of Noonan syndrome. Ectodermal involvement, short stature associated with growth hormone (GH) deficiency (GHD), and cognitive deficits are common features. We report on a patient with molecularly confirmed NS/LAH exhibiting severe short stature associated with GH insensitivity (GHI), and chronic complex tics, a neurological feature never described before in this syndrome. IGF1 generation test revealed only a blunted increase in IGF1 after exogenous GH treatment, revealing mild GH insensitivity associated with proper STAT5 activation. Most common causes of secondary tics in childhood were excluded. © 2012 Wiley Periodicals, Inc.