Congenital central hypothyroidism:Diagnostics and pathogenesis

Abstract

The focus of the studies described in this thesis lies on diagnostics and pathogenesis of con- genital central hypothyroidism. The importance of, and difficulties in diagnosing congenital central hypothyroidism are emphasized. In addition, the complex polygenic etiology of congenital central hypothyroidism within the framework of multiple pituitary hormone deficiencies (specifically pituitary stalk interruption syndrome) is highlighted