ESPE Yearbook of Paediatric Endocrinology

Preface: In the past 12 months, between June 1, 2022 and May 31, 2023, the search for ‘Differences of Sexual Development’ or ‘disorders of sex development’ or ‘ambiguous genitalia’ or ‘gonadal development’ or ‘DSD’ in PubMed yielded 680 publications published in English. A similar search for gender incongruence revealed more than 600 papers. Among those, 15 are summarized in this chapter. The selection process has been very challenging given the space available but we prioritized the key publications chosen on the quality of methodology, the significance of the outcome, and particularly the impact on clinical practice. We have endeavored to balance basic research and clinical articles.

Emerging themes of DSD research for this year’s chapter include: i) Novel genomic and epigenomic insights in gonadal development; ii) Novel technologies for fertility augmentation and; iii) New modifiers of androgen receptor. The selection of gender incongruence articles report clinical studies with potential impact on growth, metabolic and psychological outcomes of transgender individuals. We hope these selected publications will help with understanding and improve both knowledge and the clinical care of patients.