ESPE Yearbook of Paediatric Endocrinology

The current chapter on gender dysphoria (GD) in children and adolescents and disorders/differences of sex development (DSD) is a novel addition to the Yearbook and presented here for the first time. The reason for adding the chapter is obvious for all pediatric endocrinologists as the knowledge and numbers of patients in these areas have increased heavily during the past few decades. This situation has created clinical and ethical challenges for pediatric endocrinologists looking after patients with GD and DSD. From a scientific point of view much less is known about the biology and pathophysiology behind GD/transsexualism when compared to DSD, although transsexualism is often referred to as the DSD of the brain. In contrast several novel genes and molecular mechanisms behind DSD have been delineated during the past year that will be discussed in this chapter. For GD phenotypically most but certainly not all cases show an early onset (preschool) pointing to a possible congenital developmental background. However, a late onset (most commonly peripubertal) may indicate environmental or epigenetic influences. A total of 20 articles were chosen covering epidemiological, molecular, clinical, reviews, editorials and other aspects of the two themes. The selected articles are sorted under different headings such as new genes, important for clinical practice, new hope, new paradigms and others. We realize that there are many other excellent papers within the fields published during the past year that we may have missed and yet others which we could not include due to space limitation. The selection obviously represents our own biases but we hope you find it interesting and useful for your daily work in the pediatric endocrinology clinic or experimental setting.