Complete Androgen Insensitivity Syndrome Associated with Male Gender Identity or Female Precocious Puberty in the Same Family

被引：12
作者：
Bermudez de la Vega, Jose Antonio [1 ]
Fernandez-Cancio, Monica [3 ]
Bernal, Susana [2 ]
Audi, Laura [3 ]
机构：
[1] Virgen Macarena Univ Hosp, Dept Paediat, Paediat Endocrinol, ES-41007 Seville, Spain
[2] Virgen del Rocio Childrens Univ Hosp, Dept Internal Med, Seville, Spain
[3] Autonomous Univ Barcelona, Ctr Biomed Res Network Rare Dis CIBERER, Vall dHebron Res Inst VHIR, Paediat Endocrinol, Barcelona, Spain
来源：
SEXUAL DEVELOPMENT | 2015年 / 9卷 / 02期
关键词：
Complete androgen insensitivity syndrome; Male gender identity; Precocious puberty; RECEPTOR GENE-MUTATIONS; DYSPHORIA QUESTIONNAIRE; SEX DEVELOPMENT; GROWTH; BONE; ADOLESCENTS; ESTROGENS; HEIGHT; ADULTS;
D O I：
10.1159/000371617
中图分类号：
Q [生物科学];
学科分类号：
07 ; 0710 ; 09 ;
摘要：
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; Mullerain 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. (C) 2015 S. Karger AG, Basel
引用
收藏
页码：75 / 79
页数：5
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