Introduction and Development of Guidance
Differences or disorders of sex development (DSD) are a wide range of conditions with diverse features and pathophysiology that most often present in the newborn or the adolescent. Newborns with DSD usually present with atypical genitalia whereas adolescents present with atypical sexual development and maturation during the pubertal years. These clinical situations can often be challenging to evaluate as they can present in a wide range of paediatric and adult settings. Developing a logical and pragmatic management plan for investigations whilst establishing a dialogue and building rapport with the child or adolescent and the parents are central to the initial approach and ongoing management.
The consensus reached in 2005 on the general principles of managing patients with DSD represented a historic milestone for international collaboration in this area. Over the last two decades, and as a direct result of the above initiative, multidisciplinary and international collaborative projects such as EuroDSD, I-DSD, DSDlife and DSDnet have promoted greater engagement with patients and parents and continued to generate new knowledge and guidance. Since guidance on the initial evaluation of a complex condition is often influenced by local provision of health care, it was felt that reaching a consensus at a national level was the most effective means of improving care in the UK. A UK DSD taskforce was initially formed in 2009 under the auspices of the UK Society for Endocrinology with the remit of formulating guidance on the initial evaluation process and the diagnostic approach. After completion, the document was subject to open external review by the involved professional societies, patient group representatives and wider open consultation. The guidance was subsequently revised and republished in 2015. The current, second, revision of the guidance was initiated in 2020 and has also taken a similar path as described above. The main focus of this guidance has remained on the initial approach to the care of the infant or adolescent who presents with a suspected DSD.
Clin Endocrinol. 2021;95(6):818-840. © 2021 Blackwell Publishing