help button home button Endocrine Society Endocrine Reviews
HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS

This Article
Right arrow Full Text
Right arrow Full Text (PDF)
Right arrow Purchase Article
Right arrow View Shopping Cart
Right arrow Alert me when this article is cited
Right arrow Alert me if a correction is posted
Right arrow Citation Map
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Download to citation manager
Right arrow Request Copyright Permission
Citing Articles
Right arrow Citing Articles via HighWire
Right arrow Citing Articles via Google Scholar
Google Scholar
Right arrow Articles by Foresta, C.
Right arrow Articles by Ferlin, A.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Foresta, C.
Right arrow Articles by Ferlin, A.
Endocrine Reviews 22 (2): 226-239
Copyright © 2001 by The Endocrine Society

Y Chromosome Microdeletions and Alterations of Spermatogenesis1

Carlo Foresta, Enrico Moro and Alberto Ferlin

University of Padova, Department of Medical and Surgical Sciences, Clinica Medica 3, 35128 Padova, Italy

Three different spermatogenesis loci have been mapped on the Y chromosome and named "azoospermia factors" (AZFa, b, and c). Deletions in these regions remove one or more of the candidate genes (DAZ, RBMY, USP9Y, and DBY) and cause severe testiculopathy leading to male infertility. We have reviewed the literature and the most recent advances in Y chromosome mapping, focusing our attention on the correlation between Y chromosome microdeletions and alterations of spermatogenesis. More than 4,800 infertile patients were screened for Y microdeletions and published. Such deletions determine azoospermia more frequently than severe oligozoospermia and involve especially the AZFc region including the DAZ gene family. Overall, the prevalence of Y chromosome microdeletions is 4% in oligozoospermic patients, 14% in idiopathic severely oligozoospermic men, 11% in azoospermic men, and 18% in idiopathic azoospermic subjects. Patient selection criteria appear to substantially influence the prevalence of microdeletions. No clear correlation exists between the size and localization of the deletions and the testicular phenotype. However, it is clear that larger deletions are associated with the most severe testicular damage. Patients with Y chromosome deletions frequently have sperm either in the ejaculate or within the testis and are therefore suitable candidates for assisted reproduction techniques. This possibility raises a number of medical and ethical concerns, since the use of spermatozoa carrying Y chromosome deletions may produce pregnancies, but in such cases the genetic anomaly will invariably be passed on to male offspring.




This article has been cited by other articles:


Home page
Endocr. Rev.Home page
C. Foresta, D. Zuccarello, A. Garolla, and A. Ferlin
Role of Hormones, Genes, and Environment in Human Cryptorchidism
Endocr. Rev., August 1, 2008; 29(5): 560 - 580.
[Abstract] [Full Text] [PDF]


Home page
Hum Reprod UpdateHome page
R.H. Martin
Cytogenetic determinants of male fertility
Hum. Reprod. Update, June 4, 2008; (2008) dmn017v1.
[Abstract] [Full Text] [PDF]


Home page
Mol Hum ReprodHome page
P. Costa, R. Goncalves, C. Ferras, S. Fernandes, A. T. Fernandes, M. Sousa, and A. Barros
Identification of new breakpoints in AZFb and AZFc
Mol. Hum. Reprod., April 1, 2008; 14(4): 251 - 258.
[Abstract] [Full Text] [PDF]


Home page
Mol Hum ReprodHome page
M.C. Lardone, D.A. Parodi, R. Valdevenito, M. Ebensperger, A. Piottante, M. Madariaga, R. Smith, R. Pommer, N. Zambrano, and A. Castro
Quantification of DDX3Y, RBMY1, DAZ and TSPY mRNAs in testes of patients with severe impairment of spermatogenesis
Mol. Hum. Reprod., October 1, 2007; 13(10): 705 - 712.
[Abstract] [Full Text] [PDF]


Home page
Mol Hum ReprodHome page
A. Ferlin, E. Speltra, A. Garolla, R. Selice, D. Zuccarello, and C. Foresta
Y chromosome haplogroups and susceptibility to testicular cancer
Mol. Hum. Reprod., September 1, 2007; 13(9): 615 - 619.
[Abstract] [Full Text] [PDF]


Home page
J AndrolHome page
L. Hadjkacem-Loukil, I. Ayadi, A. Bahloul, H. Ayadi, and L. Ammar-Keskes
Tag STS in the AZF Region Associated With Azoospermia in a Tunisian Population
J Androl, September 1, 2007; 28(5): 652 - 658.
[Abstract] [Full Text] [PDF]


Home page
J AndrolHome page
R. A. Bronson, S. K. Bronson, and L. D. Oula
Ability of Abnormally-Shaped Human Spermatozoa to Adhere to and Penetrate Zona-Free Hamster Eggs: Correlation With Sperm Morphology and Postincubation Motility
J Androl, September 1, 2007; 28(5): 698 - 705.
[Abstract] [Full Text] [PDF]


Home page
J. Med. Genet.Home page
F. Zhang, C. Lu, Z. Li, P. Xie, Y. Xia, X. Zhu, B. Wu, X. Cai, X. Wang, J. Qian, et al.
Partial deletions are associated with an increased risk of complete deletion in AZFc: a new insight into the role of partial AZFc deletions in male infertility
J. Med. Genet., July 1, 2007; 44(7): 437 - 444.
[Abstract] [Full Text] [PDF]


Home page
GeneticsHome page
D. L'Hote, C. Serres, P. Laissue, A. Oulmouden, C. Rogel-Gaillard, X. Montagutelli, and D. Vaiman
Centimorgan-Range One-Step Mapping of Fertility Traits Using Interspecific Recombinant Congenic Mice
Genetics, July 1, 2007; 176(3): 1907 - 1921.
[Abstract] [Full Text] [PDF]


Home page
J. Clin. Endocrinol. Metab.Home page
S. Bhasin
Approach to the Infertile Man
J. Clin. Endocrinol. Metab., June 1, 2007; 92(6): 1995 - 2004.
[Abstract] [Full Text] [PDF]


Home page
Mol Hum ReprodHome page
V. S. Dhillon, M. Shahid, and S. A. Husain
Associations of MTHFR DNMT3b 4977 bp deletion in mtDNA and GSTM1 deletion, and aberrant CpG island hypermethylation of GSTM1 in non-obstructive infertility in Indian men
Mol. Hum. Reprod., April 1, 2007; 13(4): 213 - 222.
[Abstract] [Full Text] [PDF]


Home page
J. Clin. Endocrinol. Metab.Home page
A. Ferlin, B. Arredi, E. Speltra, C. Cazzadore, R. Selice, A. Garolla, A. Lenzi, and C. Foresta
Molecular and Clinical Characterization of Y Chromosome Microdeletions in Infertile Men: A 10-Year Experience in Italy
J. Clin. Endocrinol. Metab., March 1, 2007; 92(3): 762 - 770.
[Abstract] [Full Text] [PDF]


Home page
J. Med. Genet.Home page
B. Arredi, A. Ferlin, E. Speltra, C. Bedin, D. Zuccarello, F. Ganz, E. Marchina, L. Stuppia, C. Krausz, and C. Foresta
Y-chromosome haplogroups and susceptibility to azoospermia factor c microdeletion in an Italian population
J. Med. Genet., March 1, 2007; 44(3): 205 - 208.
[Abstract] [Full Text] [PDF]


Home page
Mol Hum ReprodHome page
E. Kostova, C.H. Yeung, C.M. Luetjens, M. Brune, E. Nieschlag, and J. Gromoll
Association of three isoforms of the meiotic BOULE gene with spermatogenic failure in infertile men
Mol. Hum. Reprod., February 1, 2007; 13(2): 85 - 93.
[Abstract] [Full Text] [PDF]


Home page
Hum Mol GenetHome page
A. N. Yatsenko, A. Roy, R. Chen, L. Ma, L. J. Murthy, W. Yan, D. J. Lamb, and M. M. Matzuk
Non-invasive genetic diagnosis of male infertility using spermatozoal RNA: KLHL10mutations in oligozoospermic patients impair homodimerization
Hum. Mol. Genet., December 1, 2006; 15(23): 3411 - 3419.
[Abstract] [Full Text] [PDF]


Home page
Hum ReprodHome page
H.-C. Lee, Y.-M. Jeong, S. H. Lee, K. Y. Cha, S.-H. Song, N. K. Kim, K. W. Lee, and S. Lee
Association study of four polymorphisms in three folate-related enzyme genes with non-obstructive male infertility
Hum. Reprod., December 1, 2006; 21(12): 3162 - 3170.
[Abstract] [Full Text] [PDF]


Home page
Hum ReprodHome page
A. Hellani, S. Al-Hassan, A. Al-Duraihim, and S. Coskun
Y chromosome microdeletions: are they implicated in teratozoospermia?
Hum. Reprod., December 1, 2005; 20(12): 3505 - 3509.
[Abstract] [Full Text] [PDF]


Home page
Mol Hum ReprodHome page
M. Lynch, D.S. Cram, A. Reilly, M.K. O'Bryan, H.W.G. Baker, D.M. de Kretser, and R.I. McLachlan
The Y chromosome gr/gr subdeletion is associated with male infertility
Mol. Hum. Reprod., July 1, 2005; 11(7): 507 - 512.
[Abstract] [Full Text] [PDF]


Home page
Eur J EndocrinolHome page
A. Ferlin, A. Garolla, A. Bettella, L. Bartoloni, C. Vinanzi, A. Roverato, and C. Foresta
Androgen receptor gene CAG and GGC repeat lengths in cryptorchidism
Eur. J. Endocrinol., March 1, 2005; 152(3): 419 - 425.
[Abstract] [Full Text] [PDF]


Home page
J. Med. Genet.Home page
A Ferlin, A Tessari, F Ganz, E Marchina, S Barlati, A Garolla, B Engl, and C Foresta
Association of partial AZFc region deletions with spermatogenic impairment and male infertility
J. Med. Genet., March 1, 2005; 42(3): 209 - 213.
[Abstract] [Full Text] [PDF]


Home page
Hum ReprodHome page
N. Arnedo, C. Nogues, M. Bosch, and C. Templado
Mitotic and meiotic behaviour of a naturally transmitted ring Y chromosome: reproductive risk evaluation
Hum. Reprod., February 1, 2005; 20(2): 462 - 468.
[Abstract] [Full Text] [PDF]


Home page
Hum ReprodHome page
E. Clementini, C. Palka, I. Iezzi, L. Stuppia, P. Guanciali-Franchi, and G.M. Tiboni
Prevalence of chromosomal abnormalities in 2078 infertile couples referred for assisted reproductive techniques
Hum. Reprod., February 1, 2005; 20(2): 437 - 442.
[Abstract] [Full Text] [PDF]


Home page
J. Clin. Endocrinol. Metab.Home page
C. Foresta, A. Garolla, L. Bartoloni, A. Bettella, and A. Ferlin
Genetic Abnormalities among Severely Oligospermic Men Who Are Candidates for Intracytoplasmic Sperm Injection
J. Clin. Endocrinol. Metab., January 1, 2005; 90(1): 152 - 156.
[Abstract] [Full Text] [PDF]


Home page
Hum ReprodHome page
K. Hucklenbroich, J. Gromoll, M. Heinrich, C. Hohoff, E. Nieschlag, and M. Simoni
Partial deletions in the AZFc region of the Y chromosome occur in men with impaired as well as normal spermatogenesis
Hum. Reprod., January 1, 2005; 20(1): 191 - 197.
[Abstract] [Full Text] [PDF]


Home page
Hum ReprodHome page
M. de Llanos, J. L. Ballesca, C. Gazquez, E. Margarit, and R. Oliva
High frequency of gr/gr chromosome Y deletions in consecutive oligospermic ICSI candidates
Hum. Reprod., January 1, 2005; 20(1): 216 - 220.
[Abstract] [Full Text] [PDF]


Home page
Hum ReprodHome page
J. Lespinasse, P. Hoffmann, A. Lauge, D. Stoppa-Lyonnet, F. Felmann, J.C. Pons, and G. Lesca
Chromosomal instability in two siblings with gonad deficiency: Case report
Hum. Reprod., January 1, 2005; 20(1): 158 - 162.
[Abstract] [Full Text] [PDF]


Home page
Hum ReprodHome page
P. Tschanter, E. Kostova, C.M. Luetjens, T. G. Cooper, E. Nieschlag, and J. Gromoll
No association of the A260G and A386G DAZL single nucleotide polymorphisms with male infertility in a Caucasian population
Hum. Reprod., December 1, 2004; 19(12): 2771 - 2776.
[Abstract] [Full Text] [PDF]


Home page
Mol Hum ReprodHome page
C. Ferras, S. Fernandes, C.J. Marques, F. Carvalho, C. Alves, J. Silva, M. Sousa, and A. Barros
AZF and DAZ gene copy-specific deletion analysis in maturation arrest and Sertoli cell-only syndrome
Mol. Hum. Reprod., October 1, 2004; 10(10): 755 - 761.
[Abstract] [Full Text] [PDF]


Home page
Mol Hum ReprodHome page
L. Bartoloni, C. Cazzadore, A. Ferlin, A. Garolla, and C. Foresta
Lack of the T54A polymorphism of the DAZL gene in infertile Italian patients
Mol. Hum. Reprod., August 1, 2004; 10(8): 613 - 615.
[Abstract] [Full Text] [PDF]


Home page
Mol Hum ReprodHome page
A. Ferlin, L. Bartoloni, G. Rizzo, A. Roverato, A. Garolla, and C. Foresta
Androgen receptor gene CAG and GGC repeat lengths in idiopathic male infertility
Mol. Hum. Reprod., June 1, 2004; 10(6): 417 - 421.
[Abstract] [Full Text] [PDF]


Home page
Biol. Reprod.Home page
A. T. Clark, K. Firozi, and M. J. Justice
Mutations in a Novel Locus on Mouse Chromosome 11 Resulting in Male Infertility Associated with Defects in Microtubule Assembly and Sperm Tail Function
Biol Reprod, May 1, 2004; 70(5): 1317 - 1324.
[Abstract] [Full Text] [PDF]


Home page
Hum ReprodHome page
B. Kuhnert, J. Gromoll, E. Kostova, P. Tschanter, C.M. Luetjens, M. Simoni, and E. Nieschlag
Case Report: Natural transmission of an AZFc Y-chromosomal microdeletion from father to his sons
Hum. Reprod., April 1, 2004; 19(4): 886 - 888.
[Abstract] [Full Text] [PDF]


Home page
Mol Hum ReprodHome page
A. Tessari, E. Salata, A. Ferlin, L. Bartoloni, M.L. Slongo, and C. Foresta
Characterization of HSFY, a novel AZFb gene on the Y chromosome with a possible role in human spermatogenesis
Mol. Hum. Reprod., April 1, 2004; 10(4): 253 - 258.
[Abstract] [Full Text] [PDF]


Home page
Mol Hum ReprodHome page
J. Lee, J. Hong, E. Kim, K. Kim, S. W. Kim, H. Krishnamurthy, S. S.W. Chung, D. J. Wolgemuth, and K. Rhee
Developmental stage-specific expression of Rbm suggests its involvement in early phases of spermatogenesis
Mol. Hum. Reprod., April 1, 2004; 10(4): 259 - 264.
[Abstract] [Full Text] [PDF]


Home page
Mol Hum ReprodHome page
G.H. Westerveld, J. Gianotten, N.J. Leschot, F. van derVeen, S. Repping, and M.P. Lombardi
Heterogeneous nuclear ribonucleoprotein G-T (HNRNP G-T) mutations in men with impaired spermatogenesis
Mol. Hum. Reprod., April 1, 2004; 10(4): 265 - 269.
[Abstract] [Full Text] [PDF]


Home page
J. Clin. Endocrinol. Metab.Home page
A. Ferlin, M. Simonato, L. Bartoloni, G. Rizzo, A. Bettella, T. Dottorini, B. Dallapiccola, and C. Foresta
The INSL3-LGR8/GREAT Ligand-Receptor Pair in Human Cryptorchidism
J. Clin. Endocrinol. Metab., September 1, 2003; 88(9): 4273 - 4279.
[Abstract] [Full Text] [PDF]


Home page
Hum ReprodHome page
J. J. Kurinczuk
Safety issues in assisted reproduction technology: From theory to reality--just what are the data telling us about ICSI offspring health and future fertility and should we be concerned?
Hum. Reprod., May 1, 2003; 18(5): 925 - 931.
[Abstract] [Full Text] [PDF]


Home page
J. Med. Genet.Home page
A Ferlin, E Moro, A Rossi, B Dallapiccola, and C Foresta
The human Y chromosome's azoospermia factor b (AZFb) region: sequence, structure, and deletion analysis in infertile men
J. Med. Genet., January 1, 2003; 40(1): 18 - 24.
[Abstract] [Full Text] [PDF]


Home page
J. Clin. Endocrinol. Metab.Home page
L. Frydelund-Larsen, C. Krausz, H. Leffers, A. M. Andersson, E. Carlsen, S. Bangsboell, K. Mcelreavey, N. E. Skakkebaek, and E. Rajpert-De Meyts
Inhibin B: A Marker for the Functional State of the Seminiferous Epithelium in Patients with Azoospermia Factor c Microdeletions
J. Clin. Endocrinol. Metab., December 1, 2002; 87(12): 5618 - 5624.
[Abstract] [Full Text] [PDF]


Home page
Hum ReprodHome page
C.M. Luetjens, J. Gromoll, M. Engelhardt, S. von Eckardstein, M. Bergmann, E. Nieschlag, and M. Simoni
Manifestation of Y-chromosomal deletions in the human testis: a morphometrical and immunohistochemical evaluation
Hum. Reprod., September 1, 2002; 17(9): 2258 - 2266.
[Abstract] [Full Text] [PDF]


Home page
Hum ReprodHome page
C. Rolf, J. Gromoll, M. Simoni, and E. Nieschlag
Natural transmission of a partial AZFb deletion of the Y chromosome over three generations: Case report
Hum. Reprod., September 1, 2002; 17(9): 2267 - 2271.
[Abstract] [Full Text] [PDF]


Home page
Hum ReprodHome page
H. B. Zeyneloglu, V. Baltaci, H. E. Duran, E. Erdemli, and S. Batioglu
Achievement of pregnancy in globozoospermia with Y chromosome microdeletion after ICSI: Case report
Hum. Reprod., July 1, 2002; 17(7): 1833 - 1836.
[Abstract] [Full Text] [PDF]


Home page
J. Clin. Endocrinol. Metab.Home page
J. C. Achermann, G. Ozisik, J. J. Meeks, and J. L. Jameson
Genetic Causes of Human Reproductive Disease
J. Clin. Endocrinol. Metab., June 1, 2002; 87(6): 2447 - 2454.
[Full Text] [PDF]


Home page
Mol Hum ReprodHome page
M.G. Katz, B. Chu, R. McLachlan, N.I. Alexopoulos, D.M. de Kretser, and D.S. Cram
Genetic follow-up of male offspring born by ICSI, using a multiplex fluorescent PCR-based test for Yq deletions
Mol. Hum. Reprod., June 1, 2002; 8(6): 589 - 595.
[Abstract] [Full Text] [PDF]


Home page
Hum ReprodHome page
I.D. Morris, S. Ilott, L. Dixon, and D.R. Brison
The spectrum of DNA damage in human sperm assessed by single cell gel electrophoresis (Comet assay) and its relationship to fertilization and embryo development
Hum. Reprod., April 1, 2002; 17(4): 990 - 998.
[Abstract] [Full Text] [PDF]


Home page
J. Med. Genet.Home page
L C Layman
Human gene mutations causing infertility
J. Med. Genet., March 1, 2002; 39(3): 153 - 161.
[Abstract] [Full Text] [PDF]


Home page
Hum ReprodHome page
C. Foresta, E. Moro, and A. Ferlin
Prognostic value of Y deletion analysis: The role of current methods
Hum. Reprod., August 1, 2001; 16(8): 1543 - 1547.
[Abstract] [Full Text] [PDF]


Home page
J. Clin. Endocrinol. Metab.Home page
C. Foresta, A. Bettella, E. Moro, A. Roverato, M. Merico, and A. Ferlin
Sertoli Cell Function in Infertile Patients with and without Microdeletions of the Azoospermia Factors on the Y Chromosome Long Arm
J. Clin. Endocrinol. Metab., June 1, 2001; 86(6): 2414 - 2419.
[Abstract] [Full Text] [PDF]




HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
Endocrinology Endocrine Reviews J. Clin. End. & Metab.
Molecular Endocrinology Recent Prog. Horm. Res. All Endocrine Journals
Copyright © 2001 by The Endocrine Society