Complex genital reconstructions (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, 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 specialized 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.