Dear Colleagues,

The differences of sex development (DSD) are heterogeneous, congenital, and mostly rare conditions affecting phenotype, gender identity, the urogenital tract, and the reproductive system. Approximately one in 4500–5500 children are born within some spectrum of DSD, and even though there exists a globally used classification to categorize DSD patients, each one needs an individual approach.

The discussion on the proper management of DSD patients, mostly newborn, is currently very lively. The most controversial topics are sex assignment, the significance of molecular diagnosis in the context of genotype–phenotype correlation, and irreversible surgery procedures during childhood in those with highly predictable gender identity. The registration of sex in some newborns with DSD, despite the advances in molecular technologies, can still be considered a formidable challenge. In even half of those with 46,XY DSD the final diagnosis is not certain. Those with Y chromosome additionally have a variable risk of developing a gonadal cell cancer. This is significantly higher in patients with gonadal dysgenesis, and increases with age.

In specific groups of DSD, the coexistence of particular co-morbidities should be considered, and so a detailed clinical assessment is recommended (e.g., cardiac defects in patients with 45,X/46,XY). Finally, it is worth discussing the optimal hormonal replacement therapy in all DSD patients who require this type of support.

The diagnosis and plan for the treatment of DSD individuals should be established as quickly as possible, although without rush. It should not be a single-doctor diagnosis, but a consensual decision made by an experienced multidisciplinary team (MDT) consisting of endocrinologists, urologists, geneticists, psychologists, pediatric gynecologists, rentgenologists, and clinical sexologists, with access to ethical and legal advice. From the perspective of patients and their families, it would be optimal to organize this interdisciplinary consilium in one clinical center. However, the access to such a team varies between countries.

Prof. Aneta Gawlik
Prof. Naomi Weintrob
Dr. Ivonne Bedei
Guest Editors

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• disorders/differences of sex development (DSD)