After the initial consensus meeting of 10 years ago on disorders of sex development (DSD) with the introduction of the new terminology and classification there are still abundant controversial issues associated with the management of children with these conditions. This review article details distinct management plans and dilemmas in each of the five main groups of DSD patients with atypical genitalia – a) 46 XX DSD, b) 46 XY DSD, c) gonosomic mosaicism, d) ovotesticular DSD, e) non hormonal / non chromosomal DSD. This review article is comprehensive and allows the reader to understand the basics as well as the complex dilemmas. The authors conclude that, although there is no consensus on each individual condition, a number of agreements for most practitioners are reachable in broad terms. These are as follows:
- The need for identifying centres of expertise with a multidisciplinary approach.
- A complete conservative management of gonads in complete androgen insensitivity syndrome (CAIS), at least until puberty – although some centres are anxious about slightly higher tumour risk in this group.
- Avoidance of vaginal dilatation in children.
- Keeping asymptomatic Müllerian remnants in children.
- Removing confirmed streak gonads when Y material is present during childhood because of the high malignancy risk.
- Forty-six XY cloacal exstrophy, aphallia and severe micropenis would do best raised as male.
The longevity of some of these decisions will not be known for decades.