{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,27]],"date-time":"2026-06-27T23:43:14Z","timestamp":1782603794135,"version":"3.54.5"},"reference-count":21,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2013,10,3]],"date-time":"2013-10-03T00:00:00Z","timestamp":1380758400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2013,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:label\/><jats:p>Noonan\u2010like syndrome with loose anagen hair (NS\/LAH or Mazzanti Syndrome) is caused by a single missense mutation in <jats:italic>SHOC2<\/jats:italic> promoting t<jats:italic>N<\/jats:italic>\u2010myristoylation of the encoded protein. Cardinal features include facial features resembling NS, short stature often associated with proven growth hormone deficiency (GHD), typical ectodermal anomalies, and distinctive behavior. Overall, the clinical features are more severe than those generally observed in NS, even though the phenotype improves with age. We report on growth and pubertal trend in seven patients heterozygous for a mutated <jats:italic>SHOC2<\/jats:italic> allele, treated with long\u2010term GH\u2010therapy, and final height (FH) in three of them. They were approximately \u22123 SDS below the Italian general population standards, they had very low IGF1 levels at baseline and GHD at pharmacological tests. All patients were treated with GH (0.035\u2009mg\/kg\/day) for a mean period of 8.49\u2009\u00b1\u20095.72 years. After the 1st year of GH\u2010therapy, IGF1 level and height velocity had increased. Three of 7 patients reached the FH (\u22122.34\u2009\u00b1\u20090.12 SDS) at 18.25\u2009\u00b1\u20090.73 years, after GH administration for 12.39\u2009\u00b1\u20092.12 years. Pubertal development was variable, showing a prolonged and delayed puberty or rapid pubertal progression that could impair the FH. Overall, our data in this small cohort suggest that NS\/LAH patients benefit from long\u2010term GH\u2010therapy, although they do not show the characteristic catch\u2010up growth of isolated GHD. While the observed growth and pubertal behavior is consistent with a dysfunction of the hypothalamic\u2010pituitary\u2010gonadal axis, the functional link between <jats:italic>SHOC2<\/jats:italic> and the GH\/IGF signaling pathways remains to be clarified. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36255","type":"journal-article","created":{"date-parts":[[2013,10,12]],"date-time":"2013-10-12T02:21:28Z","timestamp":1381544488000},"page":"2756-2761","source":"Crossref","is-referenced-by-count":15,"title":["GH Therapy and first final height data in Noonan\u2010like syndrome with loose anagen hair (Mazzanti syndrome)"],"prefix":"10.1002","volume":"161","author":[{"given":"Laura","family":"Mazzanti","sequence":"first","affiliation":[{"name":"Pediatric Endocrinology and Rare Diseases, Department of Pediatrics S.Orsola\u2010Malpighi University Hospital \u2010 University of Bologna Bologna Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Federica","family":"Tamburrino","sequence":"additional","affiliation":[{"name":"Pediatric Endocrinology and Rare Diseases, Department of Pediatrics S.Orsola\u2010Malpighi University Hospital \u2010 University of Bologna Bologna Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emanuela","family":"Scarano","sequence":"additional","affiliation":[{"name":"Pediatric Endocrinology and Rare Diseases, Department of Pediatrics S.Orsola\u2010Malpighi University Hospital \u2010 University of Bologna Bologna Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annamaria","family":"Perri","sequence":"additional","affiliation":[{"name":"Pediatric Endocrinology and Rare Diseases, Department of Pediatrics S.Orsola\u2010Malpighi University Hospital \u2010 University of Bologna Bologna Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Benedetta","family":"Vestrucci","sequence":"additional","affiliation":[{"name":"Pediatric Endocrinology and Rare Diseases, Department of Pediatrics S.Orsola\u2010Malpighi University Hospital \u2010 University of Bologna Bologna Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monica","family":"Guidetti","sequence":"additional","affiliation":[{"name":"Pediatric Endocrinology and Rare Diseases, Department of Pediatrics S.Orsola\u2010Malpighi University Hospital \u2010 University of Bologna Bologna Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cesare","family":"Rossi","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics S.Orsola\u2010Malpighi University Hospital, University of Bologna Bologna Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marco","family":"Tartaglia","sequence":"additional","affiliation":[{"name":"Department 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