Utilization of a shared decision-making tool in a female infant with congenital adrenal hyperplasia and genital ambiguity

J Pediatr Endocrinol Metab. 2019 Jun 26;32(6):643-646. doi: 10.1515/jpem-2018-0567.


Background Shared decision-making (SDM) is the process by which patients/families and providers make healthcare decisions together. Our team of multidisciplinary disorders of sex development (DSD) has developed an SDM tool for parents and female patients with congenital adrenal hyperplasia (CAH) and associated genital atypia. What is new Elective genital surgery is considered controversial. SDM in a patient with genital atypia will allow patient/family to make an informed decision regarding surgical intervention. Case presentation Our patient is a 2.5-year-old female with CAH and genital atypia. Initially, her parents had intended to proceed with surgery; however, after utilizing the SDM checklist, they made an informed decision to defer urogenital sinus surgery for their daughter. Conclusions We successfully utilized an SDM tool with parents of a female infant with CAH and genital atypia, which allowed them to make an informed decision regarding surgery for their daughter. Future directions include a prospective enrolling study to determine the generalizability and applicability of SDM with families of children diagnosed with CAH.

Keywords: congenital adrenal hyperplasia; genital ambiguity; shared decision-making.

Publication types

  • Case Reports

MeSH terms

  • Adrenal Hyperplasia, Congenital / surgery*
  • Child, Preschool
  • Decision Making, Shared*
  • Disorders of Sex Development / surgery*
  • Female
  • Humans
  • Infant, Newborn
  • Information Dissemination
  • Parents / psychology*
  • Prognosis
  • Urogenital Surgical Procedures / psychology*
  • Urogenital Surgical Procedures / statistics & numerical data