ESPE Yearbook of Paediatric Endocrinology

J Pediatr Surg. 2019 Feb 22. pii: S0022-3468(19)30117–4.

doi: 10.1016/j.jpedsurg.2019.01.062. PubMed PMID:30905417

This literature review aimed to analyze the prevalence of gender dysphoria in 46,XX individuals with CAH raised female and male and to identify subgroups with a higher likelihood of gender dysphoria. In total 1770 papers published between 1988 and 2018 were identified, but data from only 28 papers were included. The proportion raised as males varied from 4% to 21% between different studies. In total, gender dysphoria was reported in n=73 individuals with 46,XX raised as males and n=36 individuals with 46,XX raised as females.

Overall, 9% of female-raised 46,XX CAH individuals declared gender dysphoria, but this proportion varied between publications from 6.3% to 27.2%. Three children and 13/27 adults (total 48%) with gender dysphoria lived as a boy or man. Similarly, 10% of male-raised 46,XX CAH individuals declared gender dysphoria. However, 76% of this group had a late diagnosis, i.e. milder forms of CAH. No specific subgroup with a higher likelihood of gender dysphoria could be identified – partly because of low statistical power. Important information, such as severity of CAH, age at diagnosis, hormonal treatment, surgery, psychological assessment to diagnose gender dysphoria was often missing.

The authors emphasize that it is inappropriate to compare transgender people and patients with DSD. The age at which gender dysphoria is apparent varies widely. Furthermore, many individuals with 46,XX CAH describe themselves as gender fluid and do not seek legal or formal transition to the other gender. Despite limitations in the evidence, this review gives important insights both on what is known so far and what information is missing. The issue is especially important in the light of the ongoing discussion about the timing of genital surgery, and the decision about sex of rearing in severely virilized cases.