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• W1991918003 abstract "To the Editor: That so-called 45,X infertile or sterile males are seldom ascertained is well illustrated by a recent case report in this journal (1Mancini A. Zollino M. Leone E. Grande G. Festa R. Lecce R. et al.A case of 45,X male: genetic reevaluation and hormonal and metabolic follow-up in adult age.Fertil Steril. 2008; 90 (2011.e17–21)Abstract Full Text Full Text PDF Scopus (8) Google Scholar) in which the authors refer to only three other infertile males (2Arnemann J. Schnittger S. Hinkel G.K. Tolkendorf E. Schmitke J. Hansmann I. A sterile male with 45,X0 and a Y;22 translocation.Hum Genet. 1991; 87: 134-138Crossref PubMed Scopus (20) Google Scholar, 3Buonadonna A.L. Cariola F. Caroppo E. Di Carlo A. Fiorente P. Valenzano M.C. et al.Molecular and cytogenetic characterization of an azoospermic male with a de-novo Y;14 translocation and alternate centromere inactivation.Hum Reprod. 2002; 17: 564-569Crossref PubMed Scopus (21) Google Scholar, 4Brisset S. Izard V. Misrahi M. Aboura A. Madoux S. Ferlicot S. et al.Cytogenetic, molecular and testicular tissue studies in an infertile 45,X male carrying an unbalanced Y;22 translocation: case report.Hum Reprod. 2005; 20: 2168-2172Crossref PubMed Scopus (33) Google Scholar). Yet it seems pertinent to point out that at least six further 45,X infertile males have been described in full (5Turleau C. Chavin-Colin F. de Grouchy J. A 45,X male with translocation of euchromatic Y chromosome material.Hum Genet. 1980; 53: 299-302Crossref PubMed Scopus (20) Google Scholar, 6Copelli S. Castiñeyra G. Levalle O. Aszpis S. Mormandi E. Targovnik H. PCR analysis of Y-chromosome sequences in a 45,X male patient and review of the literature.Arch Androl. 2000; 44: 137-145Crossref PubMed Scopus (14) Google Scholar, 7Siffroi J.P. Benzacken B. Angelopoulou R. Le Bourhis C. Berthaut I. Kanafani S. et al.Alternative centromeric inactivation in a pseudodicentric t(Y;13)(q12;p11.2) translocation chromosome associated with extreme oligozoospermia.J Med Genet. 2001; 38: 802-806Crossref PubMed Google Scholar, 8Alves C. Carvalho F. Cremades N. Sousa M. Barros A. Unique (Y;13) translocation in a male with oligozoospermia: cytogenetic and molecular studies.Eur J Hum Genet. 2002; 10: 467-474Crossref PubMed Scopus (51) Google Scholar, 9Dávalos I.P. Rivera H. Vásquez A.I. Gutiérrez-Angulo M. Hernández-Vázquez M.C. Cortina-Lunas F.A. et al.A 45,X sterile male with Yp disguised as 21p.Am J Med Genet. 2002; 111: 202-204Crossref PubMed Scopus (8) Google Scholar, 10Cui Y.X. Xia X.Y. Pan L.J. Wang Y.H. Yao B. Huang Y.F. An infertile male with apparent 45,X turned out to have 45,X,der(Y)t(Y:13)(q11.2;q12),-13: clinicopathologic and cytogenomic studies.Fertil Steril. 2007; 88 (1676.e7–11)Abstract Full Text Full Text PDF Scopus (7) Google Scholar); moreover, another patient was found among 84 infertile men (11Penna Videaú S. Araujo H. Ballesta F. Ballescá J.L. Vanrell J.A. Chromosomal abnormalities and polymoprhisms in infertile men.Arch Androl. 2001; 46: 205-210Crossref PubMed Scopus (32) Google Scholar). In all these 11 patients, the 45,X karyotype turned out to include an unbalanced Y;autosome translocation with variable breakpoints; remarkably, the involved autosome was always an acrocentric: 13 three times, 14 two times, 15 two times, 21 one time, and 22 two times (in one patient the autosome was not identified). Such a defective spermatogenesis contrasts with the normal fertility of 45,X males carrying a comparable translocation, namely a tdic(Y;15) in two families (12Andersson M. Page D.C. Pettay D. Subrt I. Turleau C. de Grouchy J. et al.Y;autosome translocation and mosaicism in the aetiology of 45,X maleness: Assignment of fertility factor to distal Yq11.Hum Genet. 1988; 79: 2-7Crossref PubMed Scopus (115) Google Scholar, 13White L.M. Treat K. Leff A. Styers D. Mitchell M. Knoll J.H. Exclusion of uniparental inheritance of chromosome 15 in a fetus with a familial dicentric (Y;15) translocation.Prenat Diag. 1998; 18: 111-116Crossref PubMed Scopus (10) Google Scholar) or a tdic(Y,22) also in two families (14Callen D.F. Sutherland G.R. Carter R.F. A fertile man with tdic(Y;22): how a stable neo-X1X2Y sex-determining mechanisms could evolve in man.Am J Med Genet. 1987; 3: 151-155Crossref Google Scholar, 15Morales C. Soler A. Bruguera J. Madrigal I. Alsius M. Obon M. et al.Pseudodicentric 22;Y translocation transmitted through four generations of a large family without phenotypic repercussion.Cytogenet Genome Res. 2007; 116: 319-323Crossref PubMed Scopus (13) Google Scholar). Reply of the Authors: 45,X infertile males: not so rareFertility and SterilityVol. 92Issue 4PreviewThe letter by Dr. Rivera gives us the opportunity to specify some important points in genotype–phenotype correlations of 45,X males carrying a Y;autosomal translocation (1). Full-Text PDF A case of 45,X male: genetic reevaluation and hormonal and metabolic follow-up in adult ageFertility and SterilityVol. 90Issue 5PreviewTo report a case of a 45,X man, a rare condition with a clinical course that has not been dealt with by any previous article in the literature. Full-Text PDF" @default.
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