The North American Differences of Sex Development (DSD) Clinician Survey: Changes in Recommendations for 46, XX Congenital Adrenal Hyperplasia - Abstract
Background: Several aspects of clinical management of 46, XX congenital adrenal hyperplasia (CAH) remain unsettled and controversial. Aim: The aim of the North American Disorders/Differences of Sex Development (DSD) Clinician Survey is to investigate changes over the last two decades in clinical recommendations among experts regarding the management of newborns with CAH. Methods: Active members of the (Lawson Wilkins) Pediatric Endocrine Society (PES) and the Societies for Pediatric Urology (SPU) participated in a web-based survey at three timepoints: 2003-04 (T1), 2010-11 (T2) and 2020 (T3). Data from 432 participants in T1, 441 in T2, and 272 in T3 are included. The participants were presented with two clinical case scenarios (one with mild/moderate CAH and one with severe CAH) and asked for recommendations for the clinical management of each case. Outcomes: The main outcomes assessed include recommended gender of rearing, surgical decision-maker (parent or patient), genital surgery timing, and age at which to disclose surgical history and karyotype to the patient. Results: Most participants recommended rearing the newborn as a girl, that parents (in consultation with physicians) should make surgical decisions, performing early genitoplasty, and disclosing surgical history earlier. Several trends were identified: a small but significant shift toward recommending a gender other than girl in severely virilized CAH; including the patient with either mild/moderate or severe virilization in decision-making; performing surgery at later ages; and disclosing surgical details earlier. Strengths and Limitations: This is the first study of its kind that monitors the clinical recommendations of physicians in the span of two decades. One limitation is whether responses to vignette-based clinician surveys do accurately reflect what they do in real-life settings. Conclusion: Despite variability in the recommendations, most experts followed CAH clinical practice guidelines, and these did not change since 2003. While some of the emerging trends align with expert opinion and empirical evidence, others appear to be in conflict. In lieu of compelling evidence regarding best practices, shared decision-making should guide clinical care.