© 2015 S. Karger AG, Basel. In 4 complete androgen insensitivity syndrome (CAIS) members of one family, 2 presented extreme and unusual clinical features: male gender identity disorder (case 1) and female precocious central puberty (case 2). The AR gene carried the mutation c.1752C>G, p.Phe584Leu. Gender dysphoria in CAIS may be considered as a true transgender and has been described in 3 other cases. Central precocious puberty has only been described in 1 case; Müllerian ducts in case 2 permitted menarche. Despite the common CAIS phenotype, there was a familial disparity for gender identity adequacy and timing and type of puberty.
- Complete androgen insensitivity syndrome
- Male gender identity
- Precocious puberty
Bermúdez De La Vega, J. A., Fernández-Cancio, M., Bernal, S., & Audí, L. (2015). Complete androgen insensitivity syndrome associated with male gender identity or female precocious puberty in the same family. Sexual Development, 9(2), 75-79. https://doi.org/10.1159/000371617