Congenital adrenal hyperplasia as a model to explore gender fluidity in early life; particularly 46,XX patients with male external genitalia

Considerations of gender/sex outcome and well-being among 46,XX individuals diagnosed with 21α-hydroxylase or 11β-hydroxylase deficiency congenital adrenal hyperplasia who were born with essentially male genitalia provide a complex model to consider gender/sex fluidity. Available outcome data focusing upon these 46,XX adults who were assigned male at birth and raised male are compared with those assigned and raised female. There is more extensive and detailed outcome data for those raised male than for those raised female, and these data suggest an overall good outcome in the male-assigned group regarding gender identity and social adjustment. While the majority of those raised female maintain a female gender identity (most recently reported at 88.7%), 23.8% report a nonheterosexual orientation; both percentages being greater than the general population. Within this model of genetic females with excessive fetal androgen exposure causing masculinization of external genitalia and impacting the central nervous system differentiation, there clearly is fluidity regarding gender development, related to both genetic (innate) and environmental factors.