Two Males with SRY-Positive 46,XX Testicular Disorder of Sex Development

References

• Allen, R.C., Zoghbi, H.Y., Moseley, A.B., Rosenblatt, H.M. and Belmont, J.W. (1992) Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation. Am J Hum Genet 51:1229-1239.
   PubMed Web of Science ®Google Scholar
• Bouayed Abdelmoula, N., Portnoi, M.F., Keskes, L., Recan, D., Bahloul, A., Boudawara, T., (2003) Skewed X-chromosome inactivation pattern in SRY positive XX maleness: a case report and review of literature. Ann Genet 46:11-18.
   PubMedGoogle Scholar
• Boucekkine, C., Nafa, D., Casanova-Bettane, M., Latron, F., Fellous, M. and Benmiloud, M. (1985) Evidence of a preferential inactivation of the paternally derived X chromosome in a 46,XX true hermaphrodite. Hum Genet 69:91-93.
   PubMed Web of Science ®Google Scholar
• Chernykh, V.B., Kurilo, L.F., Shilova, N.V., Zolotukhina, T.V., Ryzhkova, O.P., Bliznetz, E.A., (2009) Hidden X chromosomal mosaicism in a 46,XX male. Sex Dev 3(4):p183-187.
   PubMed Web of Science ®Google Scholar
• De La Chapelle, A., Hortling, H., Niemi, M. and Wennström J (1964) XX sex chromosomes in a human male. First case. Acta Med Scand 412:25-38.
   Google Scholar
• De La Chapelle, A. (1981) The etiology of maleness in XX men. Hum Genet 58:105–116.
   PubMed Web of Science ®Google Scholar
• Ergun-Longmire, B., Vinci, G., Alonso, L., Matthew, S., Tansil, S., Lin-Su, K., (2005) Clinical, hormonal and cytogenetic evaluation of 46,XX males and review of the literature. J Pediatr Endocrinol Metab 18:739-748.
   PubMed Web of Science ®Google Scholar
• Ferguson-Smith, M.A. (1966) X-Y chromosomal interchange in the aetiology of true hermaphroditism and of XX Klinefelter's syndrome. Lancet 288:475-476.
   Google Scholar
• Kusz, K., Kotecki, M., Wojda, A., Szarras-Czapnýk, M., Latos-Bielenska, A., Warenik-Szymankiewicz, A., (1999) Incomplete masculinisation of XX subjects carrying the SRY gene on an inactive X chromosome. J Med Genet 36:452-456.
   PubMed Web of Science ®Google Scholar
• Magid, M.S., Cash, K.L. and Goldstein, M. (1990) The testicular biopsy in the evaluation of infertility. Semin Urol 8(1):p51-64.
   PubMedGoogle Scholar
• Margarit, E., Coll, M.D., Oliva, R., Gomez, D., Soler, A. and Ballesta, F. (2000) SRY gene transferred to the long arm of the X chromosome in a Y-positive XX true hermaphrodite. Am J Med Genet 90:25-28.
   Web of Science ®Google Scholar
• Marshall, W.A. and Tanner, J.M. (1970) Variations in the pattern of pubertal changes in boys. Arch Dis Child 45:13-23.
   PubMed Web of Science ®Google Scholar
• McElreavey, K. and Cortes, L.S. (2001) X-Y translocations and sex differentiation. Semin Reprod Med 19:133-139.
   PubMed Web of Science ®Google Scholar
• Miller, S.A., Dykes, D.D. and Polesky, H.F. (1988) A simple salting out for extracting DNA from human nucleated cells. Nucleic Acids Res 16:1215.
   PubMed Web of Science ®Google Scholar
• Nakashima, M., Koh, E., Namiki, M. and Yoshida, A. (2002) Multiplex sequence-tagged site PCR for efficient screening of microdeletions in Y chromosome in infertile males with azoospermia or severe oligozoospermia. Arch Androl 48(5):p351-351.
   PubMedGoogle Scholar
• Ogata, T., Matsuo, M., Muroya, K., Koyama, Y. and Fukutani, K. (2001) 47,XXX male: A clinical and molecular study. Am J Med Genet 98(4):p353-353.
   PubMed Web of Science ®Google Scholar
• Ozbalkan, Z., Bagislar, S., Kiraz, S., Akyerli, B., Ozer, H.T., Yavuz, S., (2005) Skewed X chromosome inactivation in blood cells of women with scleroderma. Arthritis Rheum 52:1564-1570.
   PubMed Web of Science ®Google Scholar
• Queipo, G., Zenteno, J.C., Peña, R., Nieto, K., Radillo, A., Dorantes, L.M., (2002) Molecular analysis in true hermaphroditism: demonstration of low-level hidden mosaicism for Y-derived sequences in 46,XX cases. Hum Genet 111:278-283.
   PubMed Web of Science ®Google Scholar
• Schempp, W., Müller, G., Scherer, G., Bohlander, S.K., Rommerskirch, W., Fraccaro, M., (1989) Localization of Y chromosome sequences and X chromosomal replication studies in XX males. Hum Genet 81:144-148.
   Web of Science ®Google Scholar
• Schiebel, K., Winkelmann, M., Mertz, A., Xu, X., Page, D.C., Weil, D., (1997) Abnormal XY interchange between a novel isolated protein kinase gene, PRKY, and its homologue, PRKX, accounts for one third of all (Y+) XX males and (Y-) XY females. Hum Mol Genet 6:1985-1989.
   PubMed Web of Science ®Google Scholar
• Seabright, M. (1971) A rapid banding technique for human chromosomes. Lancet 2:971-972.
   PubMed Web of Science ®Google Scholar
• Sharp, A., Kusz, K., Jaruzelska, J., Tapper, W., Szarras-Czapnik, M., Wolski, J., (2005) Variability of sexual phenotype in 46,XX(SRY+) patients: the influence of spreading X inactivation versus position effects. J Med Genet 42:420-427.
   Web of Science ®Google Scholar
• Simoni, M., Bakker, E. and Krausz, C. (2004) EAA/EMQN best practice guidelines for molecular diagnosis of y-chromosomal microdeletions. State of the art 2004. Int J Androl 27(4):p240-240.
   PubMed Web of Science ®Google Scholar
• Sinclair, A.H., Berta, P., Palmer, M.S., Hawkýns, J.R., Griffiths, B.L., Smith, M.J., (1990) A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif. Nature 346:240-244.
   PubMed Web of Science ®Google Scholar
• Vergnaud, G., Page, D.C., Simmler, M.C., Brown, L., Rouyer, F., Noel, B., (1986) A deletion map of the human Y chromosome based on DNA hybridization. Am J Hum Genet 38:109-124.
   Web of Science ®Google Scholar
• Vilain, E.J. (2003) 46,XX Testicular Disorder of Sex Development. In: GeneReviews [Internet]. Pagon, R.A., Bird, T.C., Dolan, C.R., Stephens, K., ed. Seattle, (WA): University of Washington, Seattle.
   Google Scholar
• Vorona, E., Zitzmann, M., Gromoll, J., Schüring, A.N. and Nieschlag, E. (2007) Clinical, endocrinological, and epigenetic features of the 46,XX male syndrome, compared with 47,XXY Klinefelter patients. Clin Endocrinol Metab 92:3458-3465.
   Google Scholar
• Wang, T., Liu, J.H., Yang, J., Chen, J. and Ye, Z.Q. y(2009) 46, XX male sex reversal syndrome: a case report and review of the genetic basis. Andrologia 41:59-62.
   Google Scholar
• Weil, D., Wang, I., Dietrich, A., Poustka, A., Weissenbach, J. and Petit, C. (1994) Highly homologous loci on the X and Y chromosomes are hot-spots for ectopic recombinations leading to XX maleness. Nat Genet 7:414–419.
   PubMed Web of Science ®Google Scholar
• Yencilek, F. and Baykal, C. y(2005) 46,XX male syndrome: a case report. Clin Exp Obst Gyn 32:263-264.
   Google Scholar