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

Autor: Dominique Recan, Marie-France Portnoï, Nouha Bouayed Abdelmoula, Tahia Boudawara, Ali Bahloul, Tarek Rebai, Leila Keskes, Ali Saad
Rok vydání: 2003
Předmět:
Zdroj: Annales de Génétique. 46:11-18
ISSN: 0003-3995
DOI: 10.1016/s0003-3995(03)00011-x
Popis: 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.
Databáze: OpenAIRE
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