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Clinical Heterogeneity in two patients with Noonan-like Syndrome associated with the same SHOC2 mutation.

Capalbo D, Scala MG, Melis D, Minopoli G, Improda N, Palamaro L, Pignata C, Salerno M - Ital J Pediatr (2012)

Bottom Line: Noonan-like syndrome with loose anagen hair (NS/LAH; OMIM #607721) has been recently related to the invariant c.4A > G missense change in SHOC2.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.

View Article: PubMed Central - HTML - PubMed

Affiliation: Department of Pediatrics, Federico II University of Naples, Naples, Italy.

ABSTRACT
Noonan-like syndrome with loose anagen hair (NS/LAH; OMIM #607721) has been recently related to the invariant c.4A > G missense change in SHOC2. 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.

No MeSH data available.


Related in: MedlinePlus

Longitudinal growth curve of the 2 patients before and after (arrow) growth hormone (GH) therapy.
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Figure 2: Longitudinal growth curve of the 2 patients before and after (arrow) growth hormone (GH) therapy.

Mentions: The patient underwent a therapeutic trial with recombinant human (rh) GH at a mean dose of 45 μg/kg/die. However, no significant improvement in linear growth was observed. Nevertheless, an arrest of growth velocity was observed when GH treatment was stopped. Thus, GH was re-started in order to normalize growth velocity (Figure2a).


Clinical Heterogeneity in two patients with Noonan-like Syndrome associated with the same SHOC2 mutation.

Capalbo D, Scala MG, Melis D, Minopoli G, Improda N, Palamaro L, Pignata C, Salerno M - Ital J Pediatr (2012)

Longitudinal growth curve of the 2 patients before and after (arrow) growth hormone (GH) therapy.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4231415&req=5

Figure 2: Longitudinal growth curve of the 2 patients before and after (arrow) growth hormone (GH) therapy.
Mentions: The patient underwent a therapeutic trial with recombinant human (rh) GH at a mean dose of 45 μg/kg/die. However, no significant improvement in linear growth was observed. Nevertheless, an arrest of growth velocity was observed when GH treatment was stopped. Thus, GH was re-started in order to normalize growth velocity (Figure2a).

Bottom Line: Noonan-like syndrome with loose anagen hair (NS/LAH; OMIM #607721) has been recently related to the invariant c.4A > G missense change in SHOC2.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.

View Article: PubMed Central - HTML - PubMed

Affiliation: Department of Pediatrics, Federico II University of Naples, Naples, Italy.

ABSTRACT
Noonan-like syndrome with loose anagen hair (NS/LAH; OMIM #607721) has been recently related to the invariant c.4A > G missense change in SHOC2. 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.

No MeSH data available.


Related in: MedlinePlus