Challenges of disorders of sex development: diverse perceptions across stakeholders

Horm Res Paediatr. 2012;78(1):40-6. doi: 10.1159/000339863. Epub 2012 Jul 20.

Abstract

Background/aims: Disorders of sex development (DSD) are congenital conditions in which chromosomal, gonadal, or anatomic sex development is atypical. Optimal management is patient- and family-centered and delivered by interdisciplinary teams. The present pilot study elicits concerns held by important stakeholders on issues affecting young patients with DSD and their families.

Methods: Content from focus groups with expert clinicians (pediatric urologists (n = 7), pediatric endocrinologists (n = 10), mental health professionals (n = 4), DSD patient advocates (n = 4), and interviews with parents of DSD-affected children (newborn to 6 years; n = 11) was coded and content-analyzed to identify health-related quality of life issues.

Results: Key stressors varied across stakeholder groups. In general, family-centered issues were noted more than child-centered. In the child-centered domain, providers worried more about physical functioning; family and advocates emphasized gender concerns and body image. In the family-centered domain, parental concerns about medication management outweighed those of providers. Advocates reported more stressors regarding communication/information than other stakeholders.

Conclusion: Variability exists across stakeholder groups in the key concerns affecting young children/families with DSD. Interdisciplinary DSD healthcare team development should account for varying perspectives when counseling families and planning treatment.

Publication types

  • Evaluation Study
  • Research Support, N.I.H., Extramural

MeSH terms

  • Caregivers* / psychology
  • Child
  • Child, Preschool
  • Disorders of Sex Development / epidemiology
  • Disorders of Sex Development / psychology*
  • Disorders of Sex Development / therapy*
  • Female
  • Health Status
  • Humans
  • Infant
  • Infant, Newborn
  • Interdisciplinary Communication
  • Male
  • Parents
  • Patient-Centered Care
  • Perception / physiology*
  • Professional-Family Relations
  • Quality of Life