Complete androgen insensitivity syndrome associated with male gender identity or female precocious puberty in the same family

José A. Bermúdez De La Vega, Mónica Fernández-Cancio, Susana Bernal, Laura Audí

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    7 Citations (Scopus)

    Abstract

    © 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.
    Original languageEnglish
    Pages (from-to)75-79
    JournalSexual Development
    Volume9
    Issue number2
    DOIs
    Publication statusPublished - 1 Jan 2015

    Keywords

    • Complete androgen insensitivity syndrome
    • Male gender identity
    • Precocious puberty

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