LAUSR

INTRODUCTION The frequency of gender dysphoria (GD) among 46,XX congenital adrenal hyperplasia (CAH) patients is unknown. These data are needed to put into perspective the debate about the timing of reconstructive surgery and possible male-raising of the most severely virilized children. OBJECTIVE To analyze the frequency of female to male GD between 46,XX individuals raised as females; to identify subgroups with higher chances of showing GD; to describe the results of male-raising among 46,XX CAH patients. MATERIALS AND METHODS Analytic/descriptive literature review (January 1988 to April 2018). RESULTS Female-raised patients frequently report the desire to be male, adopt male-typical behavior and are frequently homosexual/bisexual as adults, but this does not correspond to GD. Declared GD among 46,XX CAH patients attained 9% of the reported cohorts, generally in late adolescence/adulthood. We could not prove a relationship between inadequate treatment, null-genotype, late diagnoses, a higher degree of virilization, type of CAH or higher levels of androgens and female to male GD, but this may be due to statistical limitations. Male gender raised patients (MGR) were 10.1% of CAH cohorts included in this review, mostly from underdeveloped countries, with a high proportion of late diagnoses (76.3%) and familial choices. GD was more common in this group than among female-raised patients. Opting for male gender relates to a short final height, the need for multiple surgeries, surgical castration before puberty and infertility. CONCLUSION Both male to female and female to male GD may present in 46,XX CAH patients in a contemporaneous cohort. The proportion of GD is higher among patients raised as males. DSD patients sexual maladjustments are complex and not comparable to the transgender population. Many 46,XX CAH patients with GD define themselves as gender-fluid and do not seek for legal/formal transition. Male-raising Prader 4/5 46,XX CAH patients imply infertility and multiple surgeries. There is no proof that any subgroup of CAH is more prone to GD, despite null genotypes, salt wasting phenotypes and Prader 4/5 cases being related to male-typical behavior and female homosexuality. TYPE OF STUDY Descriptive/analytic non-systematic REVIEW. LEVEL OF EVIDENCE 3.