Complex Genital Reconstructions (DSDs)

Expertise Area Coordinator: Katja Wolffenbuttel

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).

Vice-EAC: Verena Ellerkamp

• 46,XX disorder of sex development induced by fetal androgens excesss: ORPHAcode 90776 / ICD-10 Code Q99.1
• 46,XY disorder of sex development: ORPHAcode 98085 / ICD-10 Code Q56.1
• Turner syndrome: ORPHAcode 881 / ICD-10 Codes Q96.0, Q96.1, Q96.2, Q96.3, Q96.4, Q96.8, Q96.9
• Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency: ORPHAcode 90794 / ICD-10 Code E25.0

AT Linz Ordensklinikum, DE Munich LMUK, DE Leipzig UK, DE Mannheim UK, DE Tübingen UK, DE Ulm UK, DK Aarhus DNU, DK Copenhagen Rigshospitalet, ES Barcelona Sant Joan, ES Barcelona Vall d’Hebron, ES Madrid La Paz, ES Barcelona Fundació Puigvert, FI Helsinki HUS, FR Paris Necker, FR Paris Robert-Debré, IT Padua AOU, IT Bologna AOU, IT Rome Bambino Gesu, LT Vilnius SK, LV Riga BKU, NL Rotterdam Erasmus, NL Nijmegen Radboudumc, PL Gdansk MUG, PL Krakow USD, SE Stockholm Karolinska, SE Gothenburg Sahlgrenska, SE Uppsala Akademiska

Patient Information Video

The information video below was produced by ERN eUROGEN in coooperation with Erasmus MC. It was funded by the European Union.

• 46, XY Disorders of Sexual Development. Disease InfoSearch page and Genetic and Rare Diseases Information Center page.
• Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Disease InfoSearch page and Genetic and Rare Diseases Information Center page.
• Early Genital Surgery in Disorders/Differences of Sex Development: Patients’ Perspectives. This 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.
• Societies for Pediatric Urology (SPU) policy statements. [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.] 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:
  • Pediatric Decision Making and Differences of Sex Development: A Societies for Pediatric Urology and American Urological Association Joint Position Statement
  • American Medical Association Code of Ethics policy for Pediatric Decision Making
  • Societies for Pediatric Urology and the European Society for Pediatric Urology Joint Consensus Statement on the Management of Differences in Sexual Development
• Turner Syndrome. Disease InfoSearch page and Genetic and Rare Diseases Information Center page.