Society for Endocrinology UK Guidance on the Initial Evaluation of an Infant or an Adolescent With a Suspected Disorder of Sex Development (Revised 2015)

S. Faisal Ahmed; John C. Achermann; Wiebke Arlt; Adam Balen; Gerry Conway; Zoe Edwards; Sue Elford; Ieuan A. Hughes; Louise Izatt; Nils Krone; Harriet Miles; Stuart O'Toole; Les Perry; Caroline Sanders; Margaret Simmonds; Andrew Watt; Debbie Willis

Disclosures

Clin Endocrinol. 2016;84(5):771-788. 

In This Article

Abstract and Introduction

Abstract

It is paramount that any child or adolescent with a suspected disorder of sex development (DSD) is assessed by an experienced clinician with adequate knowledge about the range of conditions associated with DSD. If there is any doubt, the case should be discussed with the regional DSD team. In most cases, particularly in the case of the newborn, the paediatric endocrinologist within the regional team acts commonly as the first point of contact. This clinician should be part of a multidisciplinary team experienced in management of DSD and should ensure that the affected person and parents have access to specialist psychological support and that their information needs are comprehensively addressed. The underlying pathophysiology of DSD and the strengths and weaknesses of the tests that can be performed should be discussed with the parents and affected young person and tests undertaken in a timely fashion. Finally, in the field of rare conditions, it is imperative that the clinician shares the experience with others through national and international clinical and research collaboration.

Introduction and Development of Guidance

Disorders of sex development (DSD) are a wide range of conditions with diverse features and pathophysiology[1] that most often present in the newborn or the adolescent. Affected newborns usually present with atypical genitalia, whereas adolescents present with atypical sexual development during the pubertal years. These clinical situations can often be difficult to manage, particularly in those cases where the sex of rearing is uncertain. Developing a logical and pragmatic plan for investigations whilst establishing a dialogue and building rapport with the affected child and the parents is central to the initial approach and ongoing management.

The consensus reached in Chicago in 2005 on the general principles of managing patients with DSD represented a historic milestone for international and multidisciplinary collaboration in this area.[2,3] Some areas of care, such as the initial approach to evaluating the infant or young person with suspected DSD, were not covered in detail as that was beyond the scope of the exercise. As guidance on the initial evaluation of a complex condition is often coloured by local provision of health care, it was felt in 2009 that reaching a consensus at a national, UK level was the most effective means of proceeding further. A UK DSD taskforce was formed in March that year under the auspices of the UK Society for Endocrinology, and it was agreed that the remit of this group would be to concentrate on guidance on the initial evaluation process and the diagnostic approach rather than the clinical management of the condition once a provisional or definitive diagnosis has been reached.[4] This guidance would be aimed at a range of clinical professionals who encounter newborns and adolescents with DSD, and its purpose would not be simply to act as a manual but to harmonize good clinical practice. Stakeholder professional societies and clinical professionals who could represent these societies were identified and approached to join the taskforce, as were members of two patient support/advocacy groups (Appendix 1). These taskforce members took responsibility for individual sections and based their opinion on observational studies and expert opinion, and the whole taskforce considered each draft. After completion, the guidelines were subject to open external review by the involved professional societies and their members as well as patient group representatives. After this period of open consultation of over 3 months, comments were reviewed and most suggestions were incorporated. All members of the taskforce approved the final draft of the guidance that was first published in 2011.[4] This revision of the guidance which was initiated in 2014 has taken a similar path as described above.

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