ESPE Yearbook of Paediatric Endocrinology

Preface: In the last year the scientific community was again very active in research in both topics, differences/disorders of sex development (DSD) and transgender medicine.

In DSD, next generation sequencing approaches revealed novel variants in genes so far not suspected to participate in sex development (e.g. MYRF, DHX37, PPP1R12A ). This expands the landscape of genes and proteins involved in DSD and provides further challenges for explaining how these factors work together in a concerted way. Research from recent and ongoing international collaborative networks such as DSD-LIFE ( https://www.dsd-life.eu/), DSDnet ( https://endo-ern.eu/) revealed important findings for the diagnostic workup and treatment of DSD individuals, including standardized assessment of the external genitalia using gender neutral terminology (the External Genital Score – EGS), state-of-the art hormonal analysis, and fertility preservation.

In transgender medicine, the topics of the year were the brain and psyche of transgender people, fertility, and late effects of current treatment options. Thereby the interest was especially on effects of gender-affirming therapies on psychological, cardiovascular and metabolic health.