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

Disclosures

Clin Endocrinol. 2021;95(6):818-840. 

In This Article

Communication

Ideally, discussions with the family are led by one professional. In most situations, particularly in the case of the newborn, the paediatric endocrinologist assumes the role of clinical lead and oversees the timely involvement of other members of the team. Other team members should be discouraged from providing results as soon as they are received. For infants, this team should develop a plan for clinical management with respect to diagnosis, sex assignment, management choices band psychosocial care. The lead clinician should process this information and take responsibility for sharing the information with the team and the parents so that informed decisions can be reached in a timely manner.[16] The process of informing parents, children and young people of the various investigations and results should be discussed and documented such that the whole MDT team is aware of the status of new or ongoing conversations with the family. Ongoing communication with the family's general practitioner is important and consent for sharing information should be discussed with parents and young person. The patient and family should also be provided details of resources that can provide peer support that is independent of the clinical service. A record of early discussions, either as audio recordings or a letter, which is shared between the parents and other immediate members of the MDT and the general practitioner are helpful for all. The decision-making history that is captured in these records can be especially important for parents who can then revisit the processes that led to any critical decisions in the neonatal period. Some services may have access to translation services to ensure the letter is accessible to the patient or parents. Use of drawings and written material during discussion as well as information sheets are also useful aids for families.

Discussions with parents and young people need to occur on multiple occasions in a quiet and peaceful setting, with enough time for the family and MDT to develop a shared understanding of investigations, results, diagnosis, management and the value of ongoing psychological care for both themselves and/or their child. The pace at which information is shared should be set by the family, and issues of confidentiality should be discussed and respected.[17] Parents' and young people's initial recollections of conversations with professionals may have long-lasting effects on them and their relationship with their child and health professionals and, therefore, MDT training is required in the use of appropriate language that can contribute to psychologically appropriate care and avoid unnecessary harm.[18] The use of phrases such as 'diverse' or 'variations' in sex development may help to introduce the concept of the range of variation that may occur in typical sex development. Some peer information and support organizations prefer terms such as 'intersex' or 'variations in sex characteristics'. The young person and their family may adopt terms that best suit their psychosocial position and these choices need to be respected. The team should be cognizant of the needs of the parents who do not use English as their first language. It is also possible that for rare dialects and languages, the interpreter may originate from the same community.

From the outset, parents and young people need to be aware that the management of the condition will require a stepwise approach that first targets short-term goals without compromising more distant goals that together achieve optimal long-term well-being.[19] Families' contributions to decisions on care will be shaped by their own expectations, experiences and their understanding of sex and gender roles within the religious and cultural context of their own social networks. The complexity of the psychological and physical impact of intervention genital difference will require a thorough discussion with several members of the MDT so that the parents are fully informed and can understand the care plan to which they are asked to consent.[20,21] In cases where a high value is placed on religious opinions, centres may choose to involve an experienced religious leader such as a hospital chaplain, imam or rabbi to provide help and understanding when addressing the patient's or parents' concerns. The parents and young people may need support and guidance as to how to share essential understanding within their close community and those in trusted caring relationships with the child in a way that both utilizes existing support whilst preserving the child's need for privacy, dignity and self-autonomy.[22,23] In addition, adolescents will need direct support in navigating complex issues such as the potential for any intervention before embarking on sexual activity, decisions regarding gonadectomy, medication management and the potential for fertility preservation prior to any irreversible procedure.

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