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New UK guidance on the initial evaluation of a child with a suspected disorder of sex development

Date:
September 1, 2011
Source:
Society for Endocrinology
Summary:
New guidance highlights the importance of a multidisciplinary team in diagnosing children with a suspected disorder of sex development.

New guidance from the Society for Endocrinology highlights the importance of a multidisciplinary team in diagnosing children with a suspected disorder of sex development (DSD). The guidance is published in the journal Clinical Endocrinology. This is the first time guidance on the best practice for initial evaluation and diagnosis of a DSD has been applied to a UK clinical setting.

Disorder of sex development is an umbrella term applied a wide range of conditions, present from birth, where the development of chromosomal, gonadal and/or anatomical sex differs from expected. A DSD is most often diagnosed at birth (if the appearance of the external genitalia is ambiguous) or at puberty (for example, a boy with pubertal delay, a girl who develops male characteristics or a girl who does not start menstruation). Approximately one in 300 newborns may be born with a concern about the development of the external genitalia. However, the prevalence of complex anomalies where the sex is unclear upon expert examination is more in the region of one in 5000 births.

Managing these clinical situations can be very complex, both for parents and the medical team, especially when the sex of rearing is uncertain. This guidance aims to bring together good clinical practice and standardise the UK approach to diagnosing DSDs in infants and children.

The guidance recommends:

  • Infants or adolescents with a suspected DSD should be treated by an experienced multidisciplinary team, accessible through a regional centre. As a minimum, this team should include specialists in endocrinology, surgery and/or urology, clinical psychology, radiology, nursing and, for infants, neonatology.
  • One main contact person should be assigned to each family; in most cases, this will be the paediatric endocrinologist. The family should be told of the range of support available to them and provided with contact details for these personnel. They should also be made aware of the stepwise process used to diagnose and manage DSDs, with the ultimate goal of achieving long-term well-being.
  • Access to specialist psychological support during and after the diagnostic process is essential for both the affected person and their parents. In addition, any adolescents with an existing DSD who need medical/surgical attention should be routinely offered clinical psychological support. The pace of how information is shared should be set by the family and issues of confidentially discussed and respected.
  • The exact tests used to diagnose a DSD will vary between patients. However, as a minimum, the multidisciplinary team should take into account the patient's external appearance, internal anatomy, genetic make-up and hormone profile. The most important goals of the initial assessment period are to support the affected child and parents, assign a sex of rearing (in infants) and exclude the possibility of any early medical problems.
  • Patient groups can provide important psychological support and information to affected individuals and their families. Contact details of relevant support groups should be provided as routine by healthcare professionals upon diagnosis.
  • All medical personnel involved in the care of a patient with a DSD should have access to a regional DSD team. The team has a responsibility to educate other healthcare staff (including the family's primary physician) and should have a regular forum where they meet to discuss the case and review its own performance.

Prof Faisal Ahmed, Chair of the DSD guidance taskforce, said:

"The aim of this guidance is to support clinical professionals in the initial evaluation and diagnosis of children with suspected disorders of sex development and to provide a framework to standardise clinical practice throughout the UK. It is of paramount importance that a child with a suspected disorder of sex development is assessed by an experienced multidisciplinary team.

"Having a child diagnosed with a disorder of sex development can be a very traumatic time for families. It is essential that they are offered specialist psychological support, both at initial evaluation and later on once diagnosis has been confirmed."


Story Source:

The above story is based on materials provided by Society for Endocrinology. Note: Materials may be edited for content and length.


Journal Reference:

  1. S. Faisal Ahmed, John C. Achermann, Wiebke Arlt, Adam H. Balen, Gerry Conway, Zoe L. Edwards, Sue Elford, Ieuan A. Hughes, Louise Izatt, Nils Krone, Harriet L. Miles, Stuart O’Toole, Les Perry, Caroline Sanders, Margaret Simmonds, A. Michael Wallace, Andrew Watt, Debbie Willis. UK guidance on the initial evaluation of an infant or an adolescent with a suspected disorder of sex development. Clinical Endocrinology, 2011; 75 (1): 12 DOI: 10.1111/j.1365-2265.2011.04076.x

Cite This Page:

Society for Endocrinology. "New UK guidance on the initial evaluation of a child with a suspected disorder of sex development." ScienceDaily. ScienceDaily, 1 September 2011. <www.sciencedaily.com/releases/2011/09/110901093233.htm>.
Society for Endocrinology. (2011, September 1). New UK guidance on the initial evaluation of a child with a suspected disorder of sex development. ScienceDaily. Retrieved April 23, 2014 from www.sciencedaily.com/releases/2011/09/110901093233.htm
Society for Endocrinology. "New UK guidance on the initial evaluation of a child with a suspected disorder of sex development." ScienceDaily. www.sciencedaily.com/releases/2011/09/110901093233.htm (accessed April 23, 2014).

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