(045) Standard of Care and Patient Perspectives Regarding Early Genital Surgery for Infants with Congenital Adrenal Hyperplasia
Authors: Stewart C , Campo-Engelstein L 
Published: May 2023

Introduction

Opposition to normalizing genital surgeries for children with disorders of sex development (DSD) continues to grow. However, some have argued that congenital adrenal hyperplasia (CAH) should not be lumped in with other DSD conditions and therefore normalizing surgery for CAH infants with XX chromosomes and ambiguous genitalia is justifiable. Furthermore, patient and caregiver perspectives/satisfaction regarding early genital surgery varies greatly. The heterogeneity of views regarding early genital surgery in CAH infants may make navigating the treatment of CAH patients difficult and unique from the treatment of other DSD.

Objective

This project seeks to summarize the viewpoints regarding CAH and early genital surgery available in the biomedical literature.

Methods

We conducted a systematic literature review using the database Ovid MEDLINE using the terms “congenital adrenal hyperplasia,” “urogenital surgical procedures,” “sex reassignment surgery,” “genitalia surgery,” and “reconstructive surgical procedures.” We limited the search to English articles published from 2000 to October 2022. We limited the age range to children from birth to 23 months. We included articles with results that offered recommendations regarding decision making in early genital surgery, patient/parent perspectives or satisfaction regarding early surgery, and clinicians’ perspectives. We excluded articles that discussed the science of disease or surgical techniques and outcomes but did not address the complex perspectives regarding CAH surgery.

Results

Of the 118 articles initially retrieved, we included 53 articles. A variety of views were expressed regarding early genital surgery. Of the three articles that explicitly evaluated patient perspectives using a survey, most people with CAH seemed to approve of early genital surgery. In contrast, narrative pieces have highlighted the psychological trauma of receiving early genital surgery without their consent. Interestingly, many of the excluded articles discussed surgical techniques and their aesthetic outcomes for people with CAH, but failed to investigate the psychological impact that surgeries might have on the patient. Seven articles specifically evaluated the perspectives of the parent/caregiver in the decision making or possible regret process. One article addressed the effects of early surgery on fertility. Finally, genital surgeries and expectations also drastically vary from country to country. In more conservative countries such as Egypt, Sudan, and Nigeria, normalizing surgery is acceptable as a way to clearly define the child’s sex. In more progressive countries, such as Germany and Malta, these surgeries are not accepted or expected.

Conclusions

The biomedical literature is unclear about the global standard of care regarding CAH early genital surgery. Although there is a plethora of research regarding surgical technique, aesthetic outcomes, and even parental and caregiver decision making, there is less research regarding the long-term psychological impact of these surgeries. More research needs to amplify the voices of patients with CAH to inform the evolution of the standard of care.

Disclosure

No