Skewed X-chromosome inactivation pattern in SRY positive XX maleness: a case report and review of literature

Nouha Bouayed Abdelmoula , Marie-France Portnoi , Leila Keskes , Dominique Recan , Ali Bahloul , Tahia Boudawara , Ali Saad , Tarek Rebai
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引用次数: 42

Abstract

XX maleness is the most common condition in which testes develop in the absence of a cytogenetically detectable Y chromosome. Using fluorescence in situ hybridization (FISH) or PCR, it was possible to detect the transfer of Yp fragments including SRY gene to the terminal part of X chromosome in the majority of XX males. We report a 32-year-old-male in whom a seminal analysis showed azoospermia, an X chromatin analysis showed 44% of Barr body positive nuclei and a chromosomal analysis revealed a 46,XX karyotype. Physical examination showed a normal sexual development and bilateral small testes. Hormonal studies revealed hypergonadotropic hypogonadism. Testis histological examination showed a profile of Sertoli Only Cell Syndrome. FISH study ruled out the presence of a Y-bearing cell line, and confirmed translocation of SRY to Xp terminal part. In order to confirm that the complete masculinized phenotype was related to a preferential inactivation of the no rearranged X chromosome, X-chromosome inactivation patterns (XCIP) were studied by analysis of methylation status of the androgen receptor gene. Highly skewed XCIP was observed by greater than 90% preferential inactivation involving one of the two X chromosomes, suggesting that the SRY-bearing X chromosome was the preferentially active X allowing for sufficient SRY expression for complete masculinization.

SRY阳性XX男性x染色体失活模式偏斜1例报告及文献复习
XX男性是在没有细胞遗传学可检测到的Y染色体的情况下睾丸发育的最常见情况。利用荧光原位杂交(FISH)或PCR技术,可以检测到在大多数XX雄性中含有SRY基因的Yp片段转移到X染色体末端。我们报告一位32岁男性患者,其精液分析显示无精子症,X染色质分析显示44%的Barr体阳性核,染色体分析显示46xx核型。体格检查显示性发育正常,双侧睾丸小。激素研究显示促性腺激素亢进性性腺功能减退。睾丸组织学检查显示仅支持细胞综合征。FISH研究排除了携带y的细胞系的存在,并证实了SRY向Xp终端部分的易位。为了证实完全雄性化表型与未重排的X染色体优先失活有关,通过分析雄激素受体基因的甲基化状态,研究了X染色体失活模式(XCIP)。高度偏斜的XCIP在两条X染色体中的一条中被观察到超过90%的优先失活,这表明携带SRY的X染色体是优先活跃的X,允许足够的SRY表达以实现完全的雄性化。
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