Differences in sex development (DSD) is a term used to describe a group of congenital conditions in which an individual’s biological sex does not fully align with typical male or female development. DSD can involve differences in chromosomal sex, gonadal sex (the presence of testes or ovaries), hormonal sex (the levels of male or female hormones), or genital sex (the appearance of external genitalia). These variations can result in a wide range of phenotypes, from individuals with typical male or female characteristics to individuals with ambiguous genitalia or atypical reproductive systems. DSD can be caused by genetic mutations, hormonal imbalances, or environmental factors, and the condition may be diagnosed prenatally or at birth. Treatment may involve medical or surgical interventions, depending on the specific condition and the individual’s needs. DSD affects a small percentage of the population and can have significant social and psychological implications for affected individuals and their families. You can find out which of our Healthcare Providers have expertise in this area on our Workstreams & Expertise page. Katja Wolffenbuttel is a consultant in pediatric urology at the Erasmus University Medical Center – Sophia Children’s Hospital in Rotterdam, the Netherlands. Her clinical area of interest is the treatment of children and adolescents with genital developmental disorders, in particular DSD. She is a member of the multidisciplinary Erasmus MC Center of Expertise for DSD, participating in both ERNs dealing with DSD, ERN eUROGEN and Endo-ERN. Her research focus is DSD, particularly congenital gonadal developmental disorders, known as gonadal dysgenesis (GD). She is currently working on a research project on the relationship of somatic and germ cell components in GD. Her international memberships include the European Society for Pediatric Urology (ESPU), and the European Association of Urology (EAU). She has served the ESPU as a board member (2016-2023) and Secretary (2022-2023) and is a Fellow of the Academy of Pediatric Urology (FEAPU). We recommend the EAU Guidelines on paediatric urology, which cover differences in sex development. You can access these from our guidelines page. ERN eUROGEN has developed patient information on differences in sex development, which is available from our patient information page. Societies for Pediatric Urology (SPU) policy statements. The SPU Intersex Task Force and SPU Leadership have spent a significant amount of time advocating for both the rights of patients and health care professionals that care for patients with intersex and Congenital Adrenal Hyperplasia (CAH). This work has led to the development of several policy statements: ➡️ American Medical Association Code of Ethics policy for Pediatric Decision Making [Please note that these policies collectively summarise the SPU and ESPU position with respect to the evaluation and management of this condition, and represent the views of the SPU and ESPU representatives only.] Early genital surgery. A paper by Bennecke et al. (2021) provides data on the views of 415 adult DSD patients on early genital surgery. The results are encouraging and provide powerful arguments both against a total ban on early surgery in children with DSD and also for an individualised approach. ➡️ Early Genital Surgery in Disorders/Differences of Sex Development: Patients’ PerspectivesComplex Genital Reconstructions (DSDs) (ERN eUROGEN EA 1.1)
Expertise Area Coordinator: Katja Wolffenbuttel
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Complex Genital Reconstructions (DSDs)
