Society for Endocrinology UK Guidance on the Initial Evaluation of a Suspected Difference or Disorder of Sex Development (Revised 2021)

S. Faisal Ahmed; John Achermann; Julie Alderson; Naomi S. Crouch; Sue Elford; Ieuan A. Hughes; Nils Krone; Ruth McGowan; Talat Mushtaq; Stuart O'Toole; Leslie Perry; Martina E. Rodie; Mars Skae; Helen E. Turner


Clin Endocrinol. 2021;95(6):818-840. 

In This Article

Networks and Registers for Clinical Care, Audit and Research

It is unrealistic to expect that every clinical centre can possess a comprehensive, multidisciplinary DSD team as outlined above. Furthermore, in many cases, care at a local hospital with early telephone or secure video-link consultation with the regional centre may be more appropriate for reasons of both convenience and necessity (eg adrenal crisis in CAH). For the less complex case of hypospadias, immediate multidisciplinary input may not be necessary and initial discussion and explanation of the condition with the parents does not require urgent transfer of the baby at an emotionally sensitive period. Similarly, some investigations can also be performed at local centres that are affiliated to a regional centre. However, all centres managing children and young people with DSD should have a specialist multidisciplinary DSD team that can be accessed by its regional network and as described earlier. It is also important that all personnel who may be involved in the care of an affected person have access to the regional DSD team and have the opportunity to develop themselves professionally. Recent international surveys show that engagement in research and quality care improvement as well as participation in registries and continuous professional development activities is variable amongst centres that deliver DSD care.[6] Some regions in the UK, such as Scotland, have attempted to overcome these hurdles with the development of a managed clinical network.[91] A service model such as this is aimed at ensuring the provision of a high-quality and equitable service for all affected children and adolescents in a region. A formal organization such as this has the potential to develop a structured referral pathway within the region as well as beyond and can provide the infrastructure for better long-term care of the patient as close to home as possible. In England, DSD care is considered a 'specialized service' directly commissioned by NHS England but, currently, no formalized national network exists.

In addition to 'getting it right the first time', networks can have several other benefits in the field of DSD. A network can facilitate the creation of widely agreed protocols for the care of the affected newborn, set and monitor national standards of care, inform the rational utilization of other services such as clinical genetics and clinical biochemistry and provide a forum for education and professional development. More recently, European networks such as Endo-ERN and a urology network (eUROGEN) of reference centres for rare conditions provide a forum to promote best practice for these rare conditions. Some networks such as the Scottish DSD network and Endo-ERN have ongoing surveillance capability through projects such as the Scottish Audit of Atypical Genitalia (SAAG)[9] and EuRRECa[10] that allow continuous monitoring of clinical activity. Professional scientific societies also play an important role and many such as the BSPED and ESPE have a dedicated special interest group for DSD. Under the aegis of the BSPED, the BSPED DSD working group has developed auditable standards of care.[11]

Research and audit are vital for the management of DSD, and clinical networks have a strong potential to drive these activities with the development of care standards including patient experience data and peer-observation of clinical care provision. Following the 2005 Consensus Workshop that stressed the need for the regular collection and sharing of data across geographical boundaries, the current I-DSD registry was initially launched in 2008.[12] Over a decade later, this registry and its associated network, I-DSD play an increasingly important role in supporting research, training and benchmarking of care and service.[13] Patient registries can also facilitate the development of local circles of patients and parents with similar conditions who can support each other. The case for participating in standardized data collection and exchange for DSD has now been made at several levels and should be standard practice in centres that care for people with DSD.[2,3,11,14,15]