Abstract
Disorders of gender determination and differentiation are not common, but their psychological, ethical and social consequences are very serious. The authors of this publication deal with these aspects in terms of pediatric endocrinology, genetics and histology.
A clear division of the most extensive part is devoted first to the process of gonadal differentiation, followed by the classification of disorders (with the absence or presence of the Y chromosome in the genotype, excessive number of chromosomes, gene mutations, undescended testes and receptor disorders). The individual chapters describe the clinical features, treatment options and supplement the case reports.
The part discussing the genetics of individual disorders focuses on their clinical and genetic prognosis, passages devoted to histology focus on the morphology of dysgenetic gonads, with special attention to tumors associated with specific defects. All three sections are accompanied by a representative bibliography.