Peer-reviewed article
Gender Dysphoria Among 46,XX Patients Diagnosed with Congenital Adrenal Hyperplasia in Childhood: A Case Series.
Papadakis JL, Whitehead J, Poquiz JL, Johnson EK, Finlayson C et al. ·
Summary
Written by AI, not yet AICS's view · claude-haiku-4-5-20251001This medical case series describes four pediatric patients with congenital adrenal hyperplasia (CAH) who experienced gender dysphoria and identified as male during childhood or young adulthood. The cases highlight issues around sex assignment at birth, medication adherence, and mental health concerns in this population. The authors recommend interdisciplinary care involving behavioral health providers.
Key points
- Four patients with 46,XX CAH assigned female at birth later identified as male
- Patients experienced intentional non-adherence to CAH medication to achieve desired androgen levels
- Mental health concerns were noted across cases
- Sex assignment at birth occurred without targeted discussion of gender development
- Interdisciplinary care including behavioral health collaboration is recommended
Limitations
This is a descriptive case series of only four patients with no comparison group, so findings cannot be generalized to the broader CAH population or used to establish prevalence of gender dysphoria in this condition. The document does not provide systematic outcome data or evaluate an intervention.
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.