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

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• 作者：Bouayed Abdelmoula ; Nouha ; Portnoi ; Marie-France ; Keskes ; Leila ; Recan ; Dominique ; Bahloul ; Ali ; et. al.
• 关键词：XX maleness ; SRY ; Skewed X-chromosome inactivation ; Androgen receptor
• 刊名：Annales de Genetique
• 出版年：2003
• 出版时间：January, 2003
• 年：2003
• 卷：46
• 期：1
• 页码：11-18
• 全文大小：442 K

文摘

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.