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ea0029p1290 | Paediatric endocrinology | ICEECE2012

Noonan syndrome: short stature and pubertal delay

Alves M. , Barreiro J. , Heredia C. , Cabanas P. , Castro-Feijoo L. , Bastos M. , Carvalheiro M. , Pombo M.

Background: Noonan syndrome (NS) is a relatively common disease, clinically and genetically heterogeneous. It is characterized by facial dysmorphia, growth retardation, congenital heart disease, lymphatic dysplasia, among others. The diagnosis is clinical, according to van der Burgt criteria. In 61% of cases genetic mutations in the signaling pathway of RAS-MAPK are identified.Clinical case: BVM, male, NS suspected. At 3 years old sent to Pediatric Endoc...

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ea0011p809 | Thyroid | ECE2006

Study of the prevalence and mechanisms of action of TSH receptor and Gs protein alfa-subunit mutations, in toxic multinodular goiter and toxic adenoma from Galicia (Spain)

Palos F , Perez O , Alvarez-Iglesias V , Cameselle J , Barreiro F , Araujo D , Argueso R , Botana M , Cabezas JM , Dominguez L , Martinez T , Nuño J , Rueda JC , Lado-Abeal J

Toxic adenomas (TA) and toxic multinodular goiters (TMNG) are frequent causes of hyperthyroidism in Galicia, an endemic goiter area. In some European countries, 4080% of toxic goiters are caused by TSH receptor (TSHr) and Gs alfa-subunit (Gsa) mutations that activate cAMP pathway.Aims: To study 1) the prevalence of TSHr and Gsa mutations in TMNG and TA from Galicia, 2) the clonality of sequenced samples, 3) the constitutive activity of the identifi...

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Endocrine Abstracts

Noonan syndrome: short stature and pubertal delay

Study of the prevalence and mechanisms of action of TSH receptor and Gs protein alfa-subunit mutations, in toxic multinodular goiter and toxic adenoma from Galicia (Spain)

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