1.1 Disorders (differences) of sex development (DSD)

Disorders (differences) of sex development (DSD) is an umbrella term for multiple congenital conditions in which chromosomal, gonadal, and/or anatomical sex do not match. A DSD condition is usually noticed at a young age (e.g. when the genitals after birth do not look typical male or female), and occurs in about 1 in 4500 babies. Prenatal development of the sex organs is a complex process, in which many factors are involved. The cause of a DSD condition cannot always be traced, although currently, due to medical advances, more patients get a correct diagnosis than in the past.

Conditions covered by the term DSD

DSD includes anomalies of the sex chromosomes, gonads, external and internal genitalia. There are too many distinct DSD conditions to mention (see Orphanet classification), below are just a few examples.

  • Metabolic disorder (e.g. steroid synthesis disorder in Congenital Adrenal Hyperplasia (CAH); 5-alpha reductase deficiency; androgen synthesis disorder).
  • Androgen receptor disorder: Androgen Insensitivity Syndrome (complete (CAIS) and partial (PAIS).
  • Gonadal development disorders (e.g. complete gonadal dysgenesis (CGD); partial gonadal dysgenesis (PGD); ovotesticular DSD).
  • Chromosomal aberrations (e.g. Turner syndrome; sex chromosomal mosaicism).

Optimal treatment in a multidisciplinary context

Because of the low incidence and complexity DSD- care is preferably concentrated in specialised centres by an experienced dedicated team of healthcare professionals. Such a multidisciplinary team usually includes a pediatric urologist and/or pediatric surgeon, pediatric endocrinologist, clinical geneticist, psychologist or psychosocial caregiver. DSD treatment aims at providing: a genetic diagnosis whenever possible; protocolled medical and surgical treatment, tailored to individual unique characteristics and needs; and optimal counselling and lifelong support of patients born with a DSD condition and their families.

Additional Resources:


Societies for Pediatric Urology (SPU) policy statements

Over the last two years, 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). The result of this work has led to the development of several policy statements which include:

  1. Pediatric Decision Making and Differences of Sex Development: A Societies for Pediatric Urology and American Urological Association Joint Position Statement(https://spuonline.org/multimedia/files/SPU-AUA.pdf
  2. American Medical Association Code of Ethics policy for Pediatric Decision Making. https://policysearch.ama-assn.org/policyfinder/detail/pediatric%20decision%20making?uri=%2FAMADoc%2FEthics.xml-E-2.2.1.xml
  3. Societies for Pediatric Urology and the European Society for Pediatric Urology Joint Consensus Statement on the Management of Differences in Sexual Development. https://spuonline.org/multimedia/files/SPU-ESPU.pdf

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.

Relevant Articles/Publications:

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 strong arguments both against a total ban on early surgery in children with DSD and also for an individualized approach.