Recommendations of patients and families of girls with 46XX congenital adrenal hyperplasia in the United Kingdom regarding the timing of surgery

Pediatr Surg Int. 2021 Jan;37(1):137-143. doi: 10.1007/s00383-020-04780-3. Epub 2020 Nov 23.

Abstract

Purpose: The timing of surgery for congenital adrenal hyperplasia (CAH) is contentious. We aimed to survey expert families and patients for their recommendations regarding timing of surgery for a family with a newly diagnosed CAH child.

Methods: A Survey Monkey questionnaire was performed at the 2017 meeting of the CAH support group, "Living with CAH", and also sent to the members of the CAH support group. The surgical-timing responses were a Likert score from 1 (strongly disagree) to 5 (strongly agree). Data were analysed by Kruskal-Wallis test. p < 0.05 taken as significant.

Results: Of the 61 respondents, 12 were CAH patients, 43 were CAH parents, 3 were physicians, 1 surgeon and 2 others. For all respondents, the Likert score was 3 for infant, toddler and adult timing of surgery (neutral), not statistically significant (ns). For parents and/or children who had surgery (n = 26), the score was 4 (3-5) for infant vs. 4 (3-4) for toddler-years vs. 2 (1-3) for adulthood. This was statistically significant (p = 0.0002). When only patients who had CAH surgery were included, there were only 8 respondents and their scores were: infancy 3 (2-4) vs. toddler-years 4 (2-4) vs. adulthood 1 (1-4), ns.

Conclusion: Expert families and patients in the United Kingdom who have had CAH surgery, recommend surgery in the first few years of life vs. adulthood. There is a selection bias, however this may support MDTs in continuing to discuss surgery as an option in childhood.

Keywords: CAH; Congenital adrenal hyperplasia; DSD; Feminising genitoplasty; Genitoplasty; Timing of surgery.

MeSH terms

  • Adrenal Hyperplasia, Congenital / diagnosis
  • Adrenal Hyperplasia, Congenital / surgery*
  • Adult
  • Child, Preschool
  • Family*
  • Female
  • Humans
  • Infant
  • Parents
  • Patient Satisfaction / statistics & numerical data*
  • Surveys and Questionnaires
  • Time-to-Treatment / statistics & numerical data*
  • United Kingdom