Severe growth hormone deficiency and pituitary malformation in a patient with chromosome 2p25 duplication and 2q37 deletion

We report on a male child ascertained at 4.8 years of age with severe growth failure, growth hormone (GH) deficiency, psychomotor delay with prevalent speech impairment, and a distinct phenotype. An evaluation of his hypothalamic-pituitary region by Magnetic Resonance Imaging (MRI) revealed pituitar...

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Autores principales: Vetro, Annalisa, Pagani, Sara, Silengo, Margherita, Severino, Mariasavina, Bozzola, Elena, Meazza, Cristina, Zuffardi, Orsetta, Bozzola, Mauro
Formato: Artigo
Lenguaje:Inglês
Publicado: BioMed Central 2014
Materias:
Case Report
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC4068070/
https://ncbi.nlm.nih.gov/pubmed/24963351
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1755-8166-7-41
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