A new review study published in 2026 in the journal Journal of Pediatric Urology (Elsevier) analyzes the relationship between congenital adrenal hyperplasia and gender dysphoria. Congenital adrenal hyperplasia is a genetic disease in which, due to a defect in an enzyme (21-hydroxylase), the adrenal glands produce an abnormally high amount of androgens. The research team, led by Isabela Alvim Barroso, has gathered the cases described in the literature to better understand when and why feelings of gender incongruence appear in these people.
The study systematically reviewed publications in PubMed, Embase, and Cochrane Central up to January 2025, and identified 13 original studies describing a total of 19 cases of patients with a 46,XX karyotype, raised as girls, who developed gender dysphoria or went on to make a social transition toward the male gender. Compared with previous studies, this analysis pays special attention to three clinical factors: the degree of virilization at birth (classified using the Prader scale), the age at diagnosis, and adherence to glucocorticoid treatment.
The results point to a clear pattern: in 15 of the 19 cases (almost 79%) at least one of these circumstances was present — marked virilization, late diagnosis, or irregular adherence to replacement hormone therapy. This suggests that cumulative androgen exposure throughout life, especially when not controlled early and continuously, is associated with a greater likelihood of experiencing gender incongruence. Conversely, early diagnosis and stable treatment appear to exert a protective effect.
It is important to stress what this study does not claim: congenital adrenal hyperplasia does not “cause” gender incongruence in general, and the reported cases correspond to a very specific subgroup of patients. In addition, as this is a review of cases with a small sample, the authors warn that the results should be interpreted with caution and that more research with larger numbers of participants is needed to confirm these findings.
The clinical relevance of this review is practical. Understanding the factors associated with gender dysphoria in people with congenital adrenal hyperplasia helps medical teams make informed decisions about sex assignment at birth, surgical planning, and long-term follow-up. It also reinforces the importance of ensuring early diagnosis and continuous treatment, not only for physical health, but also for the psychological well-being of these people.
Bibliographic reference:
Barroso IA, et al. Gender dysphoria in congenital adrenal hyperplasia: a review of the cases described in the literature. Journal of Pediatric Urology. 2026;22(4):105960.
DOI: 10.1016/j.jpurol.2026.105960 | PMID: 42134083
Article page: ScienceDirect – Journal of Pediatric Urology and PubMed.
