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

被引:26
作者
Abdelmoula, NB
Portnoi, MF
Keskes, L
Recan, D
Bahloul, A
Boudawara, T
Saad, A
Rebai, T
机构
[1] Fac Med Sfax, Lab Histol Embryol, Sfax 3029, Tunisia
[2] Hop St Antoine, AP HP, Lab Embryol Pathol & Cytogenet, F-75571 Paris 12, France
[3] Hop Cochin, AP HP, Lab Biochim & Genet Mol, F-75674 Paris 14, France
[4] Hop Habib Bourguiba, Serv Urol, Sfax, Tunisia
[5] Hop Habib Bourguiba, Lab Cytol & Anat Pathol, Sfax, Tunisia
[6] Hop Farhat Hached, Lab Cytogenet & Biol Repoduct, Sousse, Tunisia
来源
ANNALES DE GENETIQUE | 2003年 / 46卷 / 01期
关键词
XX maleness; SRY; skewed X-chromosome inactivation; androgen receptor;
D O I
10.1016/S0003-3995(03)00011-X
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
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.. (C) 2003 Editions scientifiques et medicales Elsevier SAS. All rights reserved.
引用
收藏
页码:11 / 18
页数:8
相关论文
共 20 条
[1]  
ABBAS N, 1993, CR ACAD SCI III-VIE, V316, P375
[2]  
ABBAS NE, 1990, HUM GENET, V84, P356
[3]  
ALLEN RC, 1992, AM J HUM GENET, V51, P1229
[4]  
BERKOVITZ GD, 1992, SEMIN PERINATOL, V16, P289
[5]  
BERKOVITZ GD, 1992, HUM GENET, V88, P414
[6]   CLINICAL AND ANATOMICAL SPECTRUM IN XX SEX REVERSED PATIENTS - RELATIONSHIP TO THE PRESENCE OF Y-SPECIFIC DNA-SEQUENCES [J].
BOUCEKKINE, C ;
TOUBLANC, JE ;
ABBAS, N ;
CHAABOUNI, S ;
OUAHID, S ;
SEMROUNI, M ;
JAUBERT, F ;
TOUBLANC, M ;
MCELREAVEY, K ;
VILAIN, E ;
FELLOUS, M .
CLINICAL ENDOCRINOLOGY, 1994, 40 (06) :733-742
[7]   EVIDENCE OF A PREFERENTIAL INACTIVATION OF THE PATERNALLY DERIVED X-CHROMOSOME IN A 46,XX TRUE HERMAPHRODITE [J].
BOUCEKKINE, C ;
NAFA, D ;
CASANOVABETTANE, M ;
LATRON, F ;
FELLOUS, M ;
BENMILOUD, M .
HUMAN GENETICS, 1985, 69 (01) :91-93
[8]   THE ETIOLOGY OF MALENESS IN XX MEN [J].
DELACHAPELLE, A .
HUMAN GENETICS, 1981, 58 (01) :105-116
[9]   NONRANDOM INACTIVATION OF THE Y-BEARING X-CHROMOSOME IN A 46,XX INDIVIDUAL - EVIDENCE FOR THE ETIOLOGY OF 46,XX TRUE HERMAPHRODITISM [J].
FECHNER, PY ;
ROSENBERG, C ;
STETTEN, G ;
CARGILE, CB ;
PEARSON, PL ;
SMITH, KD ;
MIGEON, CJ ;
BERKOVITZ, GD .
CYTOGENETICS AND CELL GENETICS, 1994, 66 (01) :22-26
[10]  
FERGUSONSMITH MA, 1966, LANCET, V2, P475