Abstract
Purpose
Patients with a karyotype of 45,X (monosomy X) normally display a female phenotype. However, in some rare cases, monosomy X is associated with maleness. Here we describe a case of a male with a 45,X karyotype and primary infertility, which prompted molecular investigation of the sex-determination gene SRY.
Methods
Karyotyping was performed by GTG-banded chromosome analysis. The presence and location of SRY was investigated using PCR and FISH, respectively.
Results
PCR confirmed the presence of the SRY gene while FISH analysis demonstrated its location on the p arm of chromosome 13. These findings demonstrate that autosomal retention of SRY can be sub-microscopic and emphasize the importance of PCR and FISH in the genetic workup of the monosomic X male.
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References
Sybert VP, McCauley E. Turner’s syndrome. N Engl J Med. 2004;351(12):1227–38.
Nataf V, Senat MV, Albert M, Bidat L, de Mazancourt P, Roume J, et al. Prenatal diagnosis of a 45, X male with a SRY-bearing chromosome 21. Prenat Diagn. 2002;22:675–80.
World Health Organization. WHO laboratory manual for the examination of human semen and sperm-cervical mucus interaction. 5th ed. Geneva: World Health Organization; 2010.
Sinclair AH, Berta P, Palmer MS, Hawkins JR, Griffiths BL, Smith MJ, et al. A gene from the human sex determining region encodes a protein with homology to a conserved DNA binding motif. Nature. 1990;346:240–4.
Hsu LYF. Phenotype/karyotype correlations of Y chromosome aneuploidy with emphasis on structural abberations in postnatally diagnosed cases. Am J Med Genet. 1994;53:108–40.
Boutouil M, Fetni R, Qu J, et al. Fragile site and interstitial telomererepeat sequences at the fusion point of a de novo (Y; 13) translocation. Hum Genet. 1996;98(3):323–7.
Shanske A, Ellison J, Vuguin P, et al. Deletion of the pseudoautosomal region in a male with a unique Y; 13 translocation and short stature. Am J Med Genet. 1999;82(1):34–9.
Siffroi JP, Benzacken B, Angelopoulou R, et al. Alternative centromeric inactivation in a pseudodicentrict (Y; 13)(q12; p11. 2) translocation chromosome associated with extreme oligozoospermia. J Med Genet. 2001;38(11):802–6.
Alves C, Carvalho F, Cremades N, et al. Unique (Y; 13) translocation in a male with oligozoospermia: cytogenetic and molecular studies. Eur J Hum Genet EJHG. 2002;10(8):467–74.
Ying-xia CUI, et al. An infertile 45, X male carrying an unbalanced (Y, 13) translocation: a clinical cytogenetic and molecular study. J Med Postgrad. 2008;21(11):1168–71.
Stuppia L et al. Loss of the SHOX gene associated with Leri-Weill dyschondrosteosis in a 45, X male. J Med Genet. 1999;36:711–3.
Jones KJ, et al. Smith’s recognizable patterns of human malformation. Elsevier-Health Sciences Division; 2013. 9.
Acknowledgments
We express our deepest gratitude to all the staff of the Genetics and Andrology Laboratories for their excellent contribution. This work was supported by the National Population and Family Planning Commission of China (no. 2011-GJKJS-07).
Conflict of interest
The authors declare that the commercial party related to the subject and the authors of this manuscript have no conflict of interest.
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Capsule For monosomy X male, it is necessary to map the SRY gene. Our study highlights importance of traditional chromosome analysis combining with FISH to determine the translocation of SRY, especially when no additional cytogenetic aberrations are apparent.
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Peng, D., Zhang, YS., Zhang, XY. et al. An infertile 45,X male with a SRY-bearing chromosome 13: a clinical case report and literature review. J Assist Reprod Genet 32, 107–109 (2015). https://doi.org/10.1007/s10815-014-0376-z
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DOI: https://doi.org/10.1007/s10815-014-0376-z