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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Skewed X-chromosome inactivation pattern in SRY positive XX maleness: A case report and review of literature
Annales de Genetique, Volume 46, No. 1, Year 2003
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Description
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. © 2003 Éditions scientifiques et médicales Elsevier SAS. All rights reserved.
Authors & Co-Authors
Bouayed, Nouha Abdelmoula
Tunisia, Sfax
Faculty of Medicine of Sfax
Portnoi, Marie France
France, Paris
Hôpital Saint-antoine
Ammar-Keskes, Leila
Tunisia, Sfax
Faculty of Medicine of Sfax
Récan, D.
France, Paris
Hopital Cochin Ap-hp
Bahloul, Ali
Tunisia, Sfax
Chu Habib Bourguiba
Sellami-Boudawara, Tahiya
Tunisia, Sfax
Chu Habib Bourguiba
Saâd, Ali
Tunisia, Sousse
Hopital Farhat Hached Sousse
Rebaï, Tarek
Tunisia, Sfax
Faculty of Medicine of Sfax
Statistics
Citations: 42
Authors: 8
Affiliations: 5
Identifiers
Doi:
10.1016/S0003-3995(03)00011-X
ISSN:
00033995
Research Areas
Genetics And Genomics
Sexual And Reproductive Health
Participants Gender
Male