Progress in analysing disorders of sexual development

This thematic issue on Progress in 'Analysing Disorders of Sexual Development' summarizes the current state of clinical and molecular research in this important and exciting field. A new terminology for human disorders of sexual development (DSD) has recently been proposed at an International Consensus Meeting. In the introductory chapter, this terminology as well as the current approach to the management of DSD patients is presented. Several articles discuss the roles of a number of genes crucial for testis and ovarian development, and spermatogenesis. Furthermore, multiple genes involved in pituitary-gonadal functions have recently been identified, and the adverse effects of environmental chemicals or drugs interfering with endocrine functions are elucidated. These advances will allow to better identify the genetic factors causing susceptibility to such environmental pollutants and will thus lead to more appropriate methods for risk assessment. Providing an excellent overview of recent progress in the research on DSD in humans, this publication is recommended reading for geneticists, andrologists and gynecologists.