• PMID: 25633053
• Gene Name: AR
• Condition: CAIS
• Association: 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.
• Mutation: c.1752C>G, p.Phe584Leu
• Population size: 4
• Population details: 4 complete androgen insensitivity syndrome (CAIS) members of one family
• Sex: Male, Female
• Infertility type: Male infertility, Female infertility
• Other associated phenotypes: CAIS

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

Bermúdez de la Vega JA, Fernández-Cancio M, Bernal S, Audí L.

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. FAU - Bermúdez de la Vega, José A AU - Bermúdez de la Vega JA AD - Paediatric Endocrinology, Department of Paediatrics, Virgen Macarena University Hospital, Sevilla, Spain. FAU - Fernández-Cancio, Mónica AU - Fernández-Cancio M FAU - Bernal, Susana AU - Bernal S