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  • Title: Extensive Literature Review of 46,XX Newborns with Congenital Adrenal Hyperplasia and Severe Genital Masculinization: Should They Be Assigned and Reared Male?
    Author: Mazur T, O'Donnell J, Lee PA.
    Journal: J Clin Res Pediatr Endocrinol; 2024 May 31; 16(2):123-136. PubMed ID: 38149768.
    Abstract:
    46,XX individuals born with severely masculinized genitals due to congenital adrenal hyperplasia (CAH) who have been assigned male 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. This paper suggests that serious consideration should be given to male gender assignment and rearing and, in certain situations, is justified. Disorders of sex differentiation teams should inform parents about the option for male assignment and rearing in 46,XX CAH infants with severe genital masculinization, which is 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.
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