title: Complete androgen insensitivity syndrome associated with male gender identity or female precocious puberty in the same family.
abstract: 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.
authors: Paediatric Endocrinology, Department of Paediatrics, Virgen Macarena University Hospital, Sevilla, Spain.
authors: José A
authors: JA
authors: Bermúdez de la Vega
authors: Mónica
authors: M
authors: Fernández-Cancio
authors: Susana
authors: S
authors: Bernal
authors: Laura
authors: L
authors: Audí
mesh_terms: D000293:Adolescent; D013734:Androgen-Insensitivity Syndrome / Q000150:complications*; D002648:Child; D005190:Family; D005260:Female; D005783:Gender Identity; D006801:Humans; D008297:Male; D010375:Pedigree; D011629:Puberty, Precocious / Q000150:complications*