Complex Genital Reconstructions (DSDs)

EA 1.1 Complex Genital Reconstructions (DSDs)

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.

Expertise Area Coordinator and Vice-EAC

Expertise Area Coordinator:

Katja Wolffenbuttel

Vice-EAC:

Verena Ellerkamp

Conditions and Codes

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

Healthcare Providers

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

Patient Information Video

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

Additional Resources

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:
Turner Syndrome. Disease InfoSearch page and Genetic and Rare Diseases Information Center page.