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hrp0089p1-p143 | GH & IGFs P1 | ESPE2018

Severe Pre- and Postnatal Growth Retardation in a Child Harboring a Novel Homozygous IGF1 Gene Mutation

Claudia Keselman Ana , Alejandra Scaglia Paula , Martin Ayelen , Armando Romina , Maria Sanguineti Nora , Gutierrez Mariana , Braslavsky Debora , Gabriela Ballerini Maria , Gabriela Ropelato Maria , Cassinelli Hamilton , Casali Barbara , Del Rey Graciela , Campos Barros Angel , Nevado Blanco Julian , Domene Horacio , Jasper Hector , Arberas Claudia , Rey Rodolfo , Pennisi Patricia , Lapunzina-Badia Pablo , Bergada Ignacio

Background: Human IGF1 gene defects are characterized by intrauterine and postnatal growth retardation, sensorineural deafness, microcephaly and intellectual disability. Seven cases have been reported so far, and the underlying pathophysiology has been characterized in only three.Objective: To describe a patient with severe short stature presenting a novel homozygous IGF1 gene mutation and its underlying pathogenic mechanism.<p clas...

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ESPE Abstracts

Severe Pre- and Postnatal Growth Retardation in a Child Harboring a Novel Homozygous IGF1 Gene Mutation

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