title: Noonan-like syndrome with loose anagen hair associated with growth hormone insensitivity and atypical neurological manifestations.
abstract: 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.
authors.affiliation: Dipartimento di Pediatria, Università degli Studi di Napoli Federico II, Napoli, Italy.
authors.forename: D
authors.initials: D
authors.lastname: Capalbo
authors.forename: D
authors.initials: D
authors.lastname: Melis
authors.forename: L
authors.initials: L
authors.lastname: De Martino
authors.forename: L
authors.initials: L
authors.lastname: Palamaro
authors.forename: S
authors.initials: S
authors.lastname: Riccomagno
authors.forename: G
authors.initials: G
authors.lastname: Bona
authors.forename: V
authors.initials: V
authors.lastname: Cordeddu
authors.forename: C
authors.initials: C
authors.lastname: Pignata
authors.forename: M
authors.initials: M
authors.lastname: Salerno
mesh_terms: D002648:Child; D005260:Female; D006801:Humans; D007334:Insulin-Like Growth Factor I / Q000378:metabolism; D046150:Laron Syndrome / Q000235:genetics*; D058247:Loose Anagen Hair Syndrome / Q000235:genetics*; D009634:Noonan Syndrome / Q000235:genetics*; D050799:STAT5 Transcription Factor / Q000378:metabolism; D020323:Tics / Q000150:complications / Q000235:genetics*
chemical_list: D050799:STAT5 Transcription Factor; D007334:Insulin-Like Growth Factor I