Abstract
Most research on gender identity in individuals with 46,XX congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD) is focused on severe forms of CAH, commonly termed "classic CAH." Much less is known about gender identity outcomes in milder, non-classic/late-onset CAH, and how gender dysphoria may impact clinical care and management decisions. This case series presents four pediatric patients with 46,XX karyotype who were diagnosed with CAH in early-to mid-childhood and represents a varying spectrum of CAH severity. In each case, patients had female-typical genitalia or their genital variation was not appreciated and further evaluated by the care team at birth; thus, all patients were assigned female at birth without targeted discussion on gender development. Each patient later experienced gender dysphoria and identified as male, transitioning socially and/or medically. This case series reflects on commonalities across cases, intentional non-adherence to CAH medication to allow for desired increased androgen levels, as well as mental health concerns. This case series highlights the importance of interdisciplinary care for youth with 46,XX CAH, and in particular, the benefits of collaboration with behavioral health providers to improve care for patients with CAH throughout childhood and young adulthood.