Genetic and Environmental Factors in Pre- and Postnatal Growth Disorders: Studies in children born small for gestational age (SGA), with and without postnatal short stature

textabstractTh is thesis describes genetic and environmental factors which are important in pre- and postnatal growth disorders and specifi cally focuses on children born small for gestational age (SGA) with or without postnatal catch-up growth. It also presents a subclassifi cation of short SGA subjects according to length, weight and head circumference at birth. In addition, it reports investigations in three genes which have been found to play a central role in growth regulation: the insulinlike growth factor 1 (IGF1), the insulin-like growth factor 1 receptor (IGF1R) and the insulin (INS) gene and their associations with short SGA and SGA catch-up subjects. In addition, the thesis describes the results of a study into relatively large deletions and duplications (also called “copy number changes”) in 18 growth-related genes, performed in short SGA subjects. Th e last chapter describes phenotypic data of a large group of subjects participating in the Network of European Studies in Genes in growth (NESTEGG). Th is group consisted of subjects born SGA, either with persistent short or normal stature, idiopathic short stature (ISS) and controls. Finally, the aims of the study and outline of this thesis are described