Congenital Endocrinopathies

In recent years, substantial progress in gene technology has greatly improved the understanding of the pathogenesis of paediatric endocrine diseases as well as opened new diagnostic and therapeutic possibilities. This volume, based on a symposium held in Genoa in January 2007, reviews normal and abnormal hypothalamic-pituitary development affecting growth hormone (GH) secretion and defects of the GH-IGF-I axis influencing GH and IGF-I action. Abnormalities of the pituitary-gonadal axis affecting normal puberty are discussed together with defects of steroidogenesis involving both adrenal and gonadal development. The effect of glucocorticoid hormone programming in early life and defects of G proteins and their receptors are also described. Key chapters cover neonatal diabetes, congenital insulin resistance syndromes and the pathogenesis and management of persisting hyperinsulism of infancy. Finally, the application of stem cell research from animal studies to human diagnosis and therapy is reviewed. Providing information that is of topical value to physicians, nonclinical scientists and students from many disciplines, this book stimulates thought and future research opportunities with cutting-edge scientific results in the complex field of congenital endocrinopathies.