Extensive Literature Review of 46, XX Newborns with Congenital Adrenal Hyperplasia (CAH) and Severe Genital Masculinization: Should They be Assigned and Reared Male?

Abstract

46, XX individuals born with severely masculinized genitals due to congenital adrenal hyperplasia (CAH) who have been assigned males at birth and reared male can successfully establish a male gender identity/role, find employment, marry, function sexually with a female partner, and develop positive mental health status. While there were a few individuals who reportedly did not fare well or who changed gender to female, the majority of those identifying as males appear to have an overall good quality of life. Parental/family support, along with the support of others, appears essential to a positive outcome as a male or as a female. Reasons are given to support why serious consideration of a male gender assignment and rearing, in certain situations, is justified and should be seriously considered. Disorders of Sex Differentiation (DSD) teams should inform parents of the option of male assignment and rearing in 46, XX CAH infants with severe genital masculinization, a rare condition. To provide this option is concordant with the principles of ethics, transparency and with the Endocrine Society Guidelines and the American Academy of Pediatrics' policy of fully informed consent.