ESPE Yearbook of Paediatric Endocrinology

Preface

In the past 12 months, between July 2023 and 2024, the search for “Differences of Sexual Development” or “disorders of sex development” or “ambiguous genitalia” or “gonadal development” or “DSD” and “gender incongruence” or “gender dysphoria” in PubMed yielded more than 1000 publications published in English. Among those, 15 are summarized in this chapter. The selection process was very challenging given the limited space. We prioritized key publications chosen on the quality of methodology, the significance of the outcome, and particularly the impact on clinical practice. We endeavored to balance basic research and clinical articles.

This year’s selected articles on disorders of sex development (DSD) cover topics such as 1. Novel genes and mechanisms involved in gonadal development, 2. Further clinical and molecular insights into SF1 deficiency, and Klinefelter syndrome. The selected articles on gender incongruence present new clinical insights on the effects of the use of GnRH analogues and gender-affirming sex hormone therapy on psychological health, fertility, bone health and cardiovascular health outcomes in transgender individuals.

We hope these selected publications will help with understanding and improve both knowledge and the clinical care of patients.