Update in the evaluation of the azoospermic male

Ahmet Gudeloglu, Sijo J Parekattil, Ahmet Gudeloglu, Sijo J Parekattil

Abstract

Approximately 1% of all men in the general population suffer from azoospermia, and azoospermic men constitute approximately 10 to 15% of all infertile men. Thus, this group of patients represents a significant population in the field of male infertility. A thorough medical history, physical examination and hormonal profile are essential in the evaluation of azoospermic males. Imaging studies, a genetic workup and a testicular biopsy (with cryopreservation) may augment the workup and evaluation. Men with nonobstructive azoospermia should be offered genetic counseling before their spermatozoa are used for assisted reproductive techniques. This article provides a contemporary review of the evaluation of the azoospermic male.

Conflict of interest statement

No potential conflict of interest was reported.

Figures

Figure 1
Figure 1
Illustration of left-sided varicocele on physical examination.
Figure 2
Figure 2
Illustration of the hypothalamo-pituitary-gonadal axis, Part 1: Regulatory pathways
Figure 3
Figure 3
Illustration of the hypothalamo-pituitary-gonadal axis, Part 2: Feedback pathways
Figure 4
Figure 4
Transrectal imaging of the seminal vesicles
Figure 5
Figure 5
New 3D-guided transrectal imaging device (TargetScan®, Envisioneering Inc., St. Louis, MO)

References

    1. World Health Organization. WHO laboratory manual for the examination and processing of human semen. Geneva: World Health Organization; 2010. 5th ed.
    1. Corea M, Campagnone J, Sigman M. The diagnosis of azoospermia depends on the force of centrifugation. Fertil Steril. 2005;83(4):920–2.
    1. Jarow JP, Espeland MA, Lipshultz LI. Evaluation of the azoospermic patient. J Urol. 1989;142(1):62–5.
    1. Stephen EH, Chandra A. Declining estimates of infertility in the United States: 1982-2002. Fertil Steril. 2006;86(3):516–23.
    1. Jungwirth A, Diemer T, Dohle GR, Giwercman A, Kopa Z, Krausz C, et al. European Association of Urology Guidelines on Male Infertility. 2012
    1. Colpi GM, Piediferro G, Nerva F, Giacchetta D, Colpi EM, Piatti E. Sperm retrieval for intra-cytoplasmic sperm injection in non-obstructive azoospermia. Minerva Urol Nefrol. 2005;57(2):99–107.
    1. Esteves SC, Miyaoka R, Agarwal A. Sperm retrieval techniques for assisted reproduction. Int Braz J Urol. 2011;37(5):570–83.
    1. Evaluation of the azoospermic male. Fertil Steril. 2008;90(5 Suppl):S74–7.
    1. Smith JF, Walsh TJ, Turek PJ. Ejaculatory duct obstruction. Urol Clin North Am. 2000;35(2):221, viii–7.
    1. Donat R, McNeill AS, Fitzpatrick DR, Hargreave TB. The incidence of cystic fibrosis gene mutations in patients with congenital bilateral absence of the vas deferens in Scotland. Br J Urol. 1997;79(1):74–7.
    1. Grangeia A, Niel F, Carvalho F, Fernandes S, Ardalan A, Girodon E, et al. Characterization of cystic fibrosis conductance transmembrane regulator gene mutations and IVS8 poly(T) variants in Portuguese patients with congenital absence of the vas deferens. Hum Reprod. 2004;19(11):2502–8.
    1. Sabanegh E, Agarwal A. Kavoussi L R, Novick A C, Partin A W, Peters C A, Male Infertility Campbell-Walsh Urology 2012United States of America: ELSEVIER SAUNDERS; p. 616–47.Tenth ed
    1. Lanfranco F, Kamischke A, Zitzmann M, Nieschlag E. Klinefelter's syndrome. Lancet. 2004;364(9430):273–83.
    1. Oates RD. The genetic basis of male reproductive failure. Urol Clin North Am. 2008;35(2):257, ix–70.
    1. Sussman EM, Chudnovsky A, Niederberger CS. Hormonal evaluation of the infertile male: has it evolved. Urol Clin North Am. 2008;35(2):147, vii–55.
    1. Hauser R, Temple-Smith PD, Southwick GJ, de Kretser D. Fertility in cases of hypergonadotropic azoospermia. Fertil Steril. 1995;63(3):631–6.
    1. Pierik FH, Vreeburg JT, Stijnen T, De Jong FH, Weber RF. Serum inhibin B as a marker of spermatogenesis. J Clin Endocrinol Metab. 1998;83(9):3110–4.
    1. Schurich M, Aigner F, Frauscher F, Pallwein L. The role of ultrasound in assessment of male fertility. Eur J Obstet Gynecol Reprod Biol. 2009;144 Suppl 1:S192–8.
    1. Foresta C, Garolla A, Bettella A, Ferlin A, Rossato M, Candiani F. Doppler ultrasound of the testis in azoospermic subjects as a parameter of testicular function. Hum Reprod. 1998;13(11):3090–3.
    1. Colpi GM, Negri L, Nappi RE, Chinea B. Is transrectal ultrasonography a reliable diagnostic approach in ejaculatory duct sub-obstruction. Hum Reprod. 1997;12(10):2186–91.
    1. Kuligowska E, Fenlon HM. Transrectal US in male infertility: spectrum of findings and role in patient care. Radiology. 1998;207(1):173–81.
    1. Donkol RH. Imaging in male-factor obstructive infertility. World J Radiol. 2010;2(5):172–9.
    1. Purohit RS, Wu DS, Shinohara K, Turek PJ. A prospective comparison of 3 diagnostic methods to evaluate ejaculatory duct obstruction. J Urol. 2004;171(1):232–5. discussion 5–6.
    1. Goldstein M. Goldstein M, Vasography Surgery of Male Infertility 1995United States of America: SAUNDERS; p. 26–31.1st ed
    1. Cornud F, Belin X, Delafontaine D, Amar T, Helenon O, Moreau JF. Imaging of obstructive azoospermia. Eur Radiol. 1997;7(7):1079–85.
    1. Schlegel PN, Shin D, Goldstein M. Urogenital anomalies in men with congenital absence of the vas deferens. J Urol. 1996;155(5):1644–8.
    1. Hauser R, Yogev L, Paz G, Yavetz H, Azem F, Lessing JB, et al. Comparison of efficacy of two techniques for testicular sperm retrieval in nonobstructive azoospermia: multifocal testicular sperm extraction versus multifocal testicular sperm aspiration. J Androl. 2006;27(1):28–33.
    1. Ramasamy R, Schlegel PN. Microdissection testicular sperm extraction: effect of prior biopsy on success of sperm retrieval. J Urol. 2007;177(4):1447–9.
    1. Dohle GR, Elzanaty S, van Casteren NJ. Testicular biopsy: clinical practice and interpretation. Asian J Androl. 2012;14(1):88–93.
    1. van Casteren NJ, Looijenga LH, Dohle GR. Testicular microlithiasis and carcinoma in situ overview and proposed clinical guideline. Int J Androl. 2009;32(4):279–87.
    1. Pallais JC, Au M, Pitteloud N, Seminara S, Crowley WF. Pagon R A, Bird T D, Dolan C R, Stephens K, Adam M P, Kallmann Syndrome GeneReviews 1993Seattle, (WA)
    1. Nishio H, Mizuno K, Moritoki Y, Kamisawa H, Kojima Y, Mizuno H, et al. Clinical features and testicular morphology in patients with Kallmann syndrome. Urology. 2012;79(3):684–6.
    1. Visootsak J, Graham JM., Jr Klinefelter syndrome and other sex chromosomal aneuploidies. Orphanet J Rare Dis. 2006;1:42.
    1. Wikstrom AM, Dunkel L. Klinefelter syndrome. Best Pract Res Clin Endocrinol Metab. 2011;25(2):239–50.
    1. Jequier AM, Ansell ID, Bullimore NJ. Congenital absence of the vasa deferentia presenting with infertility. J Androl. 1985;6(1):15–9.
    1. Anguiano A, Oates RD, Amos JA, Dean M, Gerrard B, Stewart C, et al. Congenital bilateral absence of the vas deferens.A primarily genital form of cystic fibrosis. JAMA. 1992;267(13):1794–7.
    1. Chillon M, Casals T, Mercier B, Bassas L, Lissens W, Silber S, et al. Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens. N Engl J Med. 1995;332(22):1475–80.
    1. Meng MV, Black LD, Cha I, Ljung BM, Pera RA, Turek PJ. Impaired spermatogenesis in men with congenital absence of the vas deferens. Hum Reprod. 2001;16(3):529–33.
    1. Tiepolo L, Zuffardi O. Localization of factors controlling spermatogenesis in the nonfluorescent portion of the human Y chromosome long arm. Hum Genet. 1976;34(2):119–24.
    1. Ferlin A, Arredi B, Speltra E, Cazzadore C, Selice R, Garolla A, et al. Molecular and clinical characterization of Y chromosome microdeletions in infertile men: a 10-year experience in Italy. J Clin Endocrinol Metab. 2007;92(3):762–70.
    1. Pryor JL, Kent-First M, Muallem A, Van Bergen AH, Nolten WE, Meisner L, et al. Microdeletions in the Y chromosome of infertile men. N Engl J Med. 1997;336(8):534–9.
    1. Vogt PH, 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(7):933–43.
    1. Jobling MA, Tyler-Smith C. The human Y chromosome: an evolutionary marker comes of age. Nat Rev Genet. 2003;4(8):598–612.
    1. Krausz C, Forti G, McElreavey K. The Y chromosome and male fertility and infertility. Int J Androl. 2003;26(2):70–5.
    1. Krausz C, Quintana-Murci L, McElreavey K. Prognostic value of Y deletion analysis: what is the clinical prognostic value of Y chromosome microdeletion analysis. Hum Reprod. 2000;15(7):1431–4.
    1. Kamp C, Huellen K, Fernandes S, Sousa M, Schlegel PN, Mielnik A, et al. High deletion frequency of the complete AZFa sequence in men with Sertoli-cell-only syndrome. Molecular Hum Reprod. 2001;7(10):987–94.

Source: PubMed

3
Abonnere