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• W2144715924 abstract "Hypospadias is a disorder of male external genital development in which the urethral orifice is located on the ventral surface of the penis rather than at the tip of the glans. It is thought to result from incomplete fusion of the labioscrotal folds during morphogenesis of the external genitalia of the male embryo between 8 and 12 weeks of gestation. It is among the most common of male genital abnormalities, occurring in 0.1%–0.8% of live male births (1Chambers E.L Malone P.S.J The incidence of hypospadias in two English cities.A case-control comparison of possible factors. Br J Urol. 1999; 84: 95-98Google Scholar). Patients with hypospadias occasionally have infertility related to misdirected ejaculation during coitus; for these patients, IVF is required. Although no single cause of hypospadias is known, a genetic factor is undoubtedly involved in at least a subset of cases. The Y chromosome directs development of the testes, in which the Leydig cells promote development of the male external genitalia. Abnormalities of the male external genitalia may result from failure to convert testosterone or in defects of androgen receptors, such as the Reifenstein syndrome, that are determined by a gene on the X chromosome. Y-chromosome deletions result in absence of germ cells or sperm maturation arrest. Vogt et al. (2Vogt P.H Edelmann A Kirsch S Henegariu O Hirschmann P Kiesewetter F et al.Human Y chromosome azoospermia factors (AZF) mapped to different subregions in Yq11.Hum Mol Genet. 1996; 5: 933-943Crossref PubMed Scopus (1099) Google Scholar) reported the largest series of men with azoospermia or oligospermia. They found three types of Y deletion and performed testicular biopsies on men with each type. A different type of defect was found in each man, and defects varied from absence of germ cells to maturation arrest. Recently, an inverse correlation between fertility rate and increased incidence at birth of hypospadias was shown (3Czeizel A Toth J Correlation between the birth prevalence of isolated hypospadias and paternal subfertility.Teratology. 1990; 4: 167-170Crossref Scopus (44) Google Scholar). However, no data exist in microdeletions of Yq in patients with isolated hypospadias. We investigated deletions of Yq, including the DAZ (deleted in azoospermia) and RBM (ribonucleic acid–binding motif) genes, in patients with variable degrees of isolated hypospadias. Forty-four patients who had undergone surgical repair for isolated hypospadias at the Yamagata University Hospital were included in the study. They ranged in age from 2 to 25 years (mean age, 9 years). Of the cases of hyposporadias, 6 were subcornal, 16 were penile, 17 were penoscrotal, and 5 were scrotal. Chromosome analysis of peripheral lymphocytes showed a karyotype of 46,XY in all patients. The study was approved by the Yamagata University Hospital Committee for Research on Human Subjects. Written informed consent was obtained from all patients, and clinical information about them was concealed. Genomic DNA was prepared from peripheral lymphocytes by using the Qiagen Blood & Cell Culture DNA Midi Kit (Qiagen, Hilden, Germany). Polymerase chain reaction amplification of genomic DNA was done by using 33 oligonucleotide primers (Fig. 1). As negative and positive controls, every polymerase chain reaction included one sample of female and fertile male genomic DNA, respectively. No patient with isolated hypospadias lacked any of 33 DNA loci studied, including the DAZ, RBM, and SRY (sex-determining region y) genes. Four patients with hypospadias who were older than 20 years of age had normal semen variables. The search for AZF genes led to cloning of two candidate gene families, DAZ and RBM, from deletions in interval 6 (2Vogt P.H Edelmann A Kirsch S Henegariu O Hirschmann P Kiesewetter F et al.Human Y chromosome azoospermia factors (AZF) mapped to different subregions in Yq11.Hum Mol Genet. 1996; 5: 933-943Crossref PubMed Scopus (1099) Google Scholar). Deletions of the DAZ gene and the RBM gene were found in 37.5% and 12.5% of men with azoospermia, respectively (2Vogt P.H Edelmann A Kirsch S Henegariu O Hirschmann P Kiesewetter F et al.Human Y chromosome azoospermia factors (AZF) mapped to different subregions in Yq11.Hum Mol Genet. 1996; 5: 933-943Crossref PubMed Scopus (1099) Google Scholar). According to Pryor et al. (4Pryor J.L Kent-First M Muallem A Van Bergen A.H Nolten W.E Meisner L et al.Microdeletions in the Y chromosome of infertile men.N Engl J Med. 1997; 336: 534-537Crossref PubMed Scopus (462) Google Scholar), 14 (7%) of 200 men presenting for evaluation of infertility had microdeletions in the Y chromosome. Most of the microdeletions occurred in interval 6, the region in which the DAZ gene and the RBM gene are located. Therefore, these genetic abnormalities are thought to indicate a severe quantitative defect in spermatogenesis. In our study, no patients with isolated hypospadias showed Y-chromosome microdeletions. This fact suggests that patients with isolated hypospadias is rarely associated with genetic alterations. In vitro fertilization has become increasingly popular for treatment of severe male infertility because the procedure results in a high pregnancy rate. With successive breakthroughs in treatment of impaired fertility associated with microdeletions of the Y chromosome, there is an obvious risk that a male child conceived in this manner will inherit the defective Y chromosome from his father. Therefore, Y-chromosome deletion testing should be offered to men with azoospermia or oligospermia before IVF is begun." @default.
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• W2144715924 title "Absence of Y-chromosome microdeletions in patients with isolated hypospadias" @default.
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