Maria Giuseppa Scala
Current Organizations / Institutes
The organizations/institutes from the scholar's latest article
Research Subjects
Research Interests
Maria Giuseppa Scala has a total of 7 co-authors. Here are the top co-authors by number of shared publications:
- Claudio Pignata
Department of Translational Medical Science, Pediatric Section, Federico II University, Naples, Italy
1 shared publication - Daniela Melis
Department of Translational Medical Sciences, Section of Pediatrics, Federico II University, Naples, Italy
1 shared publication - Donatella Capalbo
Unit of Pediatric Endocrinology, Department of Traslational Medical Sciences, “Federico II” University of Naples, Naples, Italy
1 shared publication - Giorgia Minopoli
Department of Pediatrics, “Federico II” University of Naples, Naples, Italy
1 shared publication - Loredana Palamaro
Department of Translational Medical Sciences, “Federico II” University, Naples, Italy
1 shared publication - Mariacarolina Salerno
Department of Translational Medical Sciences, Pediatric Endocrinology Unit, University of Naples Federico II
1 shared publication
Latest Publications
- Open Access
- 20 September 2012
- Published by Springer Nature in Italian Journal of Pediatrics
- Vol. 38 (1) , 48
Clinical Heterogeneity in two patients with Noonan-like Syndrome associated with the same SHOC2 mutation
Noonan-like syndrome with loose anagen hair (NS/LAH; OMIM #607721) has been recently related to the invariant c.4A > G missense change inSHOC2. It is characterized by features reminiscent of Noonan syndrome. Ectodermal involvement, short stature associated to growth hormone (GH) deficiency (GHD), and cognitive deficits are common features. We compare in two patients with molecularly confirmed NS/LAH diagnosis, the clinical phenotype and pathogenetic mechanism underlying short stature. In particular, while both the patients exhibited a severe short stature, GH/IGFI axis functional evaluation revealed a different pathogenetic alteration, suggesting in one patient an upstream alteration (typical GHD) and in the other one a peripheral GH insensitivity.Since only a few cases of NS/LAH associated to SHOC2 mutations have been so far described, the complex phenotype of the syndrome and the exact mechanism impairing GH/IGFI axis still remain to be elucidated and studies on larger cohort of subjects are needed to better delineate this syndrome.
- 20 September 2012
- Published by Springer Nature in Italian Journal of Pediatrics
- Vol. 38 (1) , 48
Open AccessClinical Heterogeneity in two patients with Noonan-like Syndrome associated with the same SHOC2 mutation
Noonan-like syndrome with loose anagen hair (NS/LAH; OMIM #607721) has been recently related to the invariant c.4A > G missense change inSHOC2. It is characterized by features reminiscent of Noonan syndrome. Ectodermal involvement, short stature associated to growth hormone (GH) deficiency (GHD), and cognitive deficits are common features. We compare in two patients with molecularly confirmed NS/LAH diagnosis, the clinical phenotype and pathogenetic mechanism underlying short stature. In particular, while both the patients exhibited a severe short stature, GH/IGFI axis functional evaluation revealed a different pathogenetic alteration, suggesting in one patient an upstream alteration (typical GHD) and in the other one a peripheral GH insensitivity.Since only a few cases of NS/LAH associated to SHOC2 mutations have been so far described, the complex phenotype of the syndrome and the exact mechanism impairing GH/IGFI axis still remain to be elucidated and studies on larger cohort of subjects are needed to better delineate this syndrome.