Abstract
Purpose: The aim of our study was to determine the incidence of AZF deletions and familial forms of infertility suggesting autosomal mutations among patients requiring intracytoplasmic sperm injection with ejaculated sperm.
Methods: Cases with obstructive pathologies were excluded; 81 patients were classified according to the numeration of spermatozoa. The distribution was as follows: 10 cases with normal numeration (greater than 20 million/ml) (group 1), 10 cases with between 10 and 20 million/ml (group 2), 6 cases with between 5 and 10 million/ml (group 3), 15 cases with between 1 and 5 million/ml (group 4), 29 cases with less than 1 million/ml (group 5), and 11 azoospermic patients (group 6). The infertility of 11 of the 81 patients might be explained by testicular ectopy.
Results: We found two deletions limited to the AZFc region among our 81 infertile patients—one deletion in group 5 and one deletion in group 4 (both groups of oligozoospermic patients)—and no deletion in the groups with normal or subnormal numerations. We found six familial forms of infertility. We did not find any AZF deletion, neither in these 6 patients nor in the 11 with testicular ectopy. The identification of these families of infertile men will allow research of autosomal genes involved in male infertilities.
Conclusions: It is important to test deletions of the AZFc region for oligozoospermic patients, and familial forms of infertility do not seem to concern the same individuals.
Keywords: male infertility, molecular biology, genetic cause, Y chromosome deletion
Full Text
The Full Text of this article is available as a PDF (271.5 KB).
REFERENCES
- 1.Vogt PH, Edelmann A, Kirsch S, Henegariu O, Hirschmann P, Kiesewetter F, Köhn FM, Schill WB, Farah S, Ramos C, Hartmann M, Hartschuch W, Meschede D, Behre HM, Castel A, Nieschlag E, Weidner W, Gröne HJ, Jung A, Engel W, Haide G: Human Y chromosome azoospermia factors (AZF) mapped to different subregions in Yq11. Hum Mol Genet 1996;933–943 [DOI] [PubMed]
- 2.Reijo R, Yi Lee T, Salo P, Alagappan R, Brown LG, Rosenberg M, Rozen S, Jaffe T, Straus D, Hovatta O, De la Chapelle A, Silber S, Page DC. Diverse spermatogenic defects in humans caused by chromosome Y deletions encompassing a novel RNA-binding protein gene. Nature Genet. 1995;10:383–393. doi: 10.1038/ng0895-383. [DOI] [PubMed] [Google Scholar]
- 3.Reijo R, Alagappan RK, Patrizio P, Page DC. Severe oligozoospermia resulting from deletions of azoospermia factor gene on Y chromosome. Lancet. 1996;347:1291–1293. doi: 10.1016/s0140-6736(96)90938-1. [DOI] [PubMed] [Google Scholar]
- 4.Pryor JL, Kent-First M, Muallem A, Van Bergen AH, Nolten EW, Meisner L, Roberts KP. Microdeletions in the Y chromosome of infertile men. N Engl J Med. 1997;20:534–539. doi: 10.1056/NEJM199702203360802. [DOI] [PubMed] [Google Scholar]
- 5.Ma K, Inglis JD, Sharkey A. A Y chromosome gene family with RNA-binding protein homology: Candidates for the azoospermia factor AZF controlling human spermatogenesis. Cell. 1993;75:1287–1295. doi: 10.1016/0092-8674(93)90616-x. [DOI] [PubMed] [Google Scholar]
- 6.Najmabadi H, Huang V, Yen P, et al. Substantial prevalence of microdeletions in infertile men with idiopathic azoospermia and oligozoospermia detected using a sequence-tagged site-based mapping strategy. J Clin Endocrinol Metab. 1996;81:1347–1352. doi: 10.1210/jcem.81.4.8636331. [DOI] [PubMed] [Google Scholar]
- 7.Henegariu O, Hirschmann P, Kilian K, Kirsch S, Lengauer C, Maiwald R, Mielke K, Vogt P. Rapid screening of the Y chromosome in idiopathic sterile men, diagnostic for deletions in AZF, a genetic Y factor expressed during spermatogenesis. Andrologia. 1994;26:97–106. doi: 10.1111/j.1439-0272.1994.tb00765.x. [DOI] [PubMed] [Google Scholar]
- 8.Kobayashi K, Mizuno K, Hida A, et al. PCR Analysis of the Y chromosome long arm in azoospermic patients: Evidence for a second locus required for spermatogenesis. Hum Mol Genet. 1994;3:1965–1967. doi: 10.1093/hmg/3.11.1965. [DOI] [PubMed] [Google Scholar]
- 9.Kent-First M, Muallem A, Agoulnik A: Development of a large highly diagnostic panel of multiplexed sequence tagged sites (STSs) which cover key regions on human Yq; Its application in fertile and infertile (azoospermic and oligospermic) populations. Proceedings of the Second International Workshop on Y Chromosome Mapping, 1995, GOO-698-228
- 10.Najmabadi H, Huang V, Yen P, et al. Substantial prevalence of microdeletions in infertile men with idiopathic azoospermia and oligozoospermia detected using a sequence-tagged site-based mapping strategy. J Clin Endocrinol Metab. 1996;81:1347–1352. doi: 10.1210/jcem.81.4.8636331. [DOI] [PubMed] [Google Scholar]
- 11.Qureshi SJ, Ross AR, Ma K, Cooke HJ, et al.: PCR screening for Y chromosome microdeletions: A first step towards the diagnosis of genetically determined spermatogeneic failure in men. Hum Reprod (in press) [DOI] [PubMed]
- 12.Selva J, Bergere M, Prigent Y, et al. Importance of genetic screening before ICSI Hum Reprod 1996112248671191 [Google Scholar]