Добавил:
Upload Опубликованный материал нарушает ваши авторские права? Сообщите нам.
Вуз: Предмет: Файл:
infertility.doc
Скачиваний:
18
Добавлен:
22.02.2015
Размер:
649.22 Кб
Скачать

35. Simoni m, Gromoll j, Dworniczak b, Rolf c, Abshagen k, Kamischke a, Carani c, Meschede d, Behre hm, Horst j, Nieschlag e.

Screening for deletions of the Y chromosome involving the DAZ (Deleted in AZoospermia) gene in azoospermia and severe oligozoospermia. Fertil Steril 1997; 67: 542-547.

36. Girardi SK, Mielnik A, Schlegel PN.

Submicroscopic deletions in the Y chromosome of infertile men. Hum Reprod 1997; 12:1635-1641.

37. Stuppia L, Gatta V, Calabrese G, Franchi PG, Morizio E, Bombieri C, Mingarelli R, Sforza V, Frajese G, Tenaglia R, Palka G.

A quarter of men with idiopathic oligo-azospermia display chromosomal abnormalities and microdeletions of different types in interval 6 of Yq11. Hum Genet 1998; 102: 566-570.

38. Reijo R, Lee TY, Salo P, Alagappan R, Brown LG, Rosenberg M, Rozen S, Jaffe T, Straus D, Hovatta О et al.

Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA-binding protein gene. Nat Genet 1995; 10: 383-393.

39. Kent-First MG, Kol S, Muallem A, Blazer S, Itskovitz-Eldor J.

Infertility in intracytoplasmic sperm injection-derived sons. Lancet 1996; 348: 332.

40. Stuppia L, Gatta V, Mastroprimiano G.

Clustering of Y-chromosome deletions in subinterval E of interval 6 supports the existence of an oligozoospermia critical region outside the DAZ gene. J Med Genet 1997; 34: 881-883.

41. Mulhall JP, Reijo R, Alagappan R, Brown L, Page D, Carson R, Oates RD.

Azoospermic men with deletion of the DAZ gene cluster are capable of completing spermatogenesis: fertilization, normal embryonic development and pregnancy occur when retrieved testicular spermatozoa are used for intracytoplasmic sperm injection. Hum Reprod 1997; 12: 503-508.

42. Silber SJ, Alagappan R, Brown LG, Page DC.

Y chromosome deletions in azoospermic and severely oligozoospermic men undergoing

intracytoplasmic sperm injection after testicular sperm extraction. Hum Reprod 1998; 13: 3332-3337.

43. Kamischke A, Gromoll J, Simoni M, Behre HM, Nieschlag E.

Transmisson of a Y chromosomal deletion involving the deleted in azoospermia (DAZ) and chromodomain (CDYI) genes from father to son through intracytoplasmic sperm injection: case report. Hum Reprod 1999; 14: 2320-2322.

  1. 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.

  2. Simoni M, Nieschlag E.

Molecular diagnostics of Y chromosomal microdeletions: the international quality control programme of the European Academy of Andrology. Hum Reprod (Abstract Book 1) 1999; 14: 92-93.

46. Donat r, McNeill as, Fitzpatrick dr, Hargreave тв.

The incidence of cystic fibrosis gene mutations in patients with congenital bilateral absence of the vas deferens in Scotland. Br J Urol 1997; 79: 74-77.

47. Dean M, Santis G.

Heterogeneity in the severity of cystic fibrosis and the role of CFTR gene mutations. Hum Genet 1994; 93: 364-368.

48. Tournaye H, Devroey P, Liu J, Nagy Z, Lissens W, Van Steirteghem A.

Microsurgical epididymal sperm aspiration and intracytoplasmic sperm injection: a new effective approach to infertility as a result of congenital bilateral absence of the vas deferens. Fertil Steril 1994; 61: 1045-1051.

49. Oates RD, Amos JA.

The genetic basis of congenital bilateral absence of the vas deferens and cystic fibrosis. JAndrol1994; 15:1-8.

50. Mercier B, Verlingue C, Lissens W, Silber SJ, Novelli G, Bonduelle M, Audrezet MP, Ferec С

Is congenital bilateral absence of vas deferens a primary form of cystic fibrosis? Analyses of the CFTR gene in 67 patients. Am J Hum Genet 1995; 56: 272 277.

51. De Braekeleer M, Ferec C.

Mutations in the cystic fibrosis gene in men with congenital bilateral absence of the vas deferens. Mol Hum Reprod 1996; 2: 669-677.

52. Chillon M, Casals T, Mercier B, Bassas L, Lissens W, Silber S, Romey MC, Ruiz Romero J, Verlingue C, Claustres M et al.

Mutations in cystic fibrosis gene in patients with congenital absence of the vas deferens. New Engl J Med 1995; 332: 1475-1480.

53. Drake MJ, Quinn FM.

Absent vas deferens and ipsilateral multicystic dysplastic kidney in a child. Br J Urol 1996; 77: 756-757.

54. Augarten A, Yahav Y, Kerem BS, Halle D, Laufer J, Szeinberg A, Dor J, Mashiach S, Gazit E, Madgar I.

Congenital bilateral absence of the vas deferens in the absence of cystic fibrosis. Lancet 1994; 344:1473-1474.

3. PRIMARY SPERMATOGENIC FAILURE

3.1 Definition

Primary spermatogenic failure is defined as any spermatogenic alteration originated by causes different from hypothalamic-pituitary diseases.

The severe forms of primary spermatogenic failure, caused by different aetiologies, have a clinicalpresentation as non-obstructive azoospermia.

The prevalence of azoospermia in the general population has been estimated at 2% [1]. The incidence at amale infertility clinic was found to be as high as 10-20% [2,3]. Testicular histology shows different degrees of spermatogenic alterations, ranging from tubular damage to hypospermatogenesis. Even in cases of Sertoli cell-only Syndrome (SCOS), it is possible to find seminiferous tubules with some degree of spermatogenesis. Depending on the severity of the process, FSH levels can be elevated and the testes can be reduced in size and/or consistency. Before the ICSI era, increased serum FSH was considered a sign of severe spermatogenic failure, and no other diagnostic procedures were indicated. It was demonstrated that ICSI [4] could also be used to treat some cases of non-obstructive (testicular) azoospermia. However, about 20% of these cases are associated with chromosomal abnormalities or genetic translations of the Yq chromosome (see above Genetic

disorders in infertility).

Соседние файлы в предмете [НЕСОРТИРОВАННОЕ]