ESPE Yearbook of Paediatric Endocrinology

In the past 12 months, between June 2024 and July 2025, 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, 18 are summarized in this chapter. The selection process was 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.

This year’s selected articles on disorders of sex development (DSD) covers topics such as 1. Recent information about nuclear receptor genes associated with sexual development, 2. New insights about the X chromosome in men and women, 3. Various aspects of testicular/ovotesticular DSD and, 4. DSD associated with Rare Mitochondrial Disorders. The selection of gender incongruence articles presents new clinical insights on the effects of the use of GnRH analogue and/orsex hormone treatment on the 1. immune system, 2. renal function, 3. sexual functioning in transgender individuals and briefly discusses opportunities and threats for transgender care.

We hope these selected publications will help to increase understanding and improve clinical care of patients.