Treatment with human, recombinant FSH improves sperm DNA fragmentation in idiopathic infertile men depending on the FSH receptor polymorphism p.N680S: A pharmacogenetic study

Human Reproduction

Volumn 31, Issue 9, 2016, Pages 1960-1969

  Simoni, Manuela ^a,b   Santi, Daniele ^a,b   Negri, Luciano ^c   Hoffmann, Ivan ^d   Muratori, Monica ^e   Baldi, Elisabetta ^e   Cambi, Marta ^e   Marcou, Marios ^d   Greither, Thomas ^d   Baraldi, Enrica ^b   Tagliavini, Simonetta ^b   Carra, Daniela ^b   Lombardo, Francesco ^f   Gandini, Loredana ^f   Pallotti, Francesco ^f   Krausz, Csilla ^e   Rastrelli, Giulia ^e   Ferlin, Alberto ^g   Menegazzo, Massimo ^g   Pignatti, Elisa ^a   Linari, Francesca ^a,b   Marino, Marco ^a   Benaglia, Renzo ^c   Levi Setti, Paolo E ^c   Behre, Hermann M ^d   more..

^a UNIVERSITY OF MODENA AND REGGIO EMILIA   (Italy)

^b AUSL Modena   (Italy)

^c HUMANITAS CLINICAL AND RESEARCH CENTER   (Italy)

^d MARTIN LUTHER UNIVERSITY HALLE WITTENBERG   (Germany)

^e UNIVERSITY OF FLORENCE   (Italy)

^f SAPIENZA UNIVERSITY OF ROME   (Italy)

^g UNIVERSITY OF PADOVA   (Italy)

Author keywords

FSH; FSH receptor; FSHB 211G T; FSHR pN680S; Male infertility; Sperm DNA fragmentation index

Indexed keywords

ESTRADIOL; FOLLITROPIN RECEPTOR; GENOMIC DNA; LUTEINIZING HORMONE; PROLACTIN; PROPIDIUM IODIDE; RECOMBINANT FOLLITROPIN; TESTOSTERONE; FOLLITROPIN;

ADULT; ARTICLE; CONTROLLED STUDY; DISEASE MARKER; DNA FRAGMENTATION; ESTRADIOL BLOOD LEVEL; FLOW CYTOMETRY; FOLLOW UP; GENOTYPE; HETEROZYGOTE; HORMONAL THERAPY; HUMAN; HUMAN CELL; IDIOPATHIC DISEASE; LONGITUDINAL STUDY; LUTEINIZING HORMONE BLOOD LEVEL; MAJOR CLINICAL STUDY; MALE; MULTICENTER STUDY; OLIGOSPERMIA; OPEN STUDY; PROLACTIN BLOOD LEVEL; PROPIDIUM IODIDE ASSAY; PROSPECTIVE STUDY; RANDOMIZED CONTROLLED TRIAL; SINGLE NUCLEOTIDE POLYMORPHISM; SPERM; SPERM QUALITY; SPERMATOGENESIS; SPERMATOZOON DENSITY; SPERMATOZOON MOTILITY; TESTOSTERONE BLOOD LEVEL; TREATMENT DURATION; ALLELE; CLINICAL TRIAL; DRUG EFFECTS; GENETICS; MALE INFERTILITY; PHARMACOGENETIC TESTING; PHASE 2 CLINICAL TRIAL; SPERMATOZOON; TREATMENT OUTCOME;

ADULT; ALLELES; DNA FRAGMENTATION; FOLLICLE STIMULATING HORMONE, HUMAN; GENOTYPE; HUMANS; INFERTILITY, MALE; MALE; PHARMACOGENOMIC TESTING; POLYMORPHISM, SINGLE NUCLEOTIDE; RECEPTORS, FSH; SPERM MOTILITY; SPERMATOGENESIS; SPERMATOZOA; TREATMENT OUTCOME;

EID: 84988982012     PISSN: 02681161     EISSN: 14602350     Source Type: Journal    
DOI: 10.1093/humrep/dew167     Document Type: Article

References (36)

1. Acosta AA, Oehninger S, Ertunc H, Philput C. Possible role of pure human follicle-stimulating hormone in the treatment of severe male-factor infertility by assisted reproduction: Preliminary report. Fertil Steril 1991; 55: 1150-1156.
2. Acosta AA, Khalifa E, Oehninger S. Pure human follicle stimulating hormone has a role in the treatment of severe male infertility by assisted reproduction: Norfolk's total experience. HumReprod 1992; 7: 1067-1072.
3. Attia AM,Abou-Setta AM, Al-Inany HG.Gonadotrophins for idiopathic male factor subfertility. Cochrane Database Syst Rev 2013; 8: CD005071.
4. Behre HM, Greb RR, Mempel A, Sonntag B, Kiesel L, Kaltwasser P, Seliger E, Ropke F, Gromoll J, Nieschlag E et al. Significance of a common single nucleotide polymorphism in exon 10 of the follicle-stimulating hormone (FSH) receptor gene for the ovarian response to FSH: A pharmacogenetic approach to controlled ovarian hyperstimulation. Pharmacogenet Genomics 2005; 15: 451-456.
5. Casarini L, Moriondo V, Marino M, Adversi F, Capodanno F, Grisolia C, La Marca A, La Sala GB, Simoni M. FSHR polymorphism p.N680S mediates different responses to FSH in vitro. Mol Cell Endocrinol 2014; 393: 83-91.
6. Casarini L, Santi D, Marino M. Impact of gene polymorphisms of gonadotropins and their receptors on human reproductive success. Reproduction 2015; 150: R175-R184.
7. Chansel-Debordeaux L, Dandieu S, Bechoua S, Jimenez C. Reproductive outcome in globozoospermic men: Update and prospects. Andrology 2015; 3: 1022-1034.
8. Colacurci N, Monti MG, Fornaro F, Izzo G, Izzo P, Trotta C, Mele D, De Franciscis P. Recombinant human FSH reduces sperm DNA fragmentation in men with idiopathic oligoasthenoteratozoospermia. J Androl 2012; 33: 588-593.
9. Cooper TG, Atkinson AD, Nieschlag E. Experience with external quality control in spermatology. Hum Reprod 1999; 14: 765-769.
10. Esteves SC, Chan P. A systematic review of recent clinical practice guidelines and best practice statements for the evaluation of the infertile male. Int Urol Nephrol 2015; 47: 1441-1456.
11. Ferlin A, Vinanzi C, Selice R, Garolla A, Frigo AC, Foresta C. Toward a pharmacogenetic approach to male infertility: Polymorphism of follicle-stimulating hormone beta-subunit promoter. Fertil Steril 2011; 96: 1344-1349 e1342.
12. Grigorova M, Punab M, Ausmees K, Laan M. FSHB promoter polymorphism within evolutionary conserved element is associated with serum FSH level in men. Hum Reprod 2008; 23: 2160-2166.
13. Grigorova M, Punab M, Poolamets O, Kelgo P, Ausmees K, Korrovits P, Vihljajev V, Laan M. Increased prevalance of the -211T allele of follicle stimulating hormone (FSH) beta subunit promoter polymorphism and lower serum FSH in infertile men. J Clin Endocrinol Metab 2010; 95: 100-108.
14. Grigorova M, Punab M, Zilaitiene B, Erenpreiss J, Ausmees K, Matulevicius V, Tsarev I, Jorgensen N, Laan M. Genetically determined dosage of follicle-stimulating hormone (FSH) affects male reproductive parameters. J Clin Endocrinol Metab 2011; 96: E1534-E1541.
15. Grigorova M, Punab M, Poolamets O, Sober S, Vihljajev V, Zilaitiene B, Erenpreiss J, Matulevicius V, Tsarev I, Laan M. Study in 1790 Baltic men: FSHR Asn680Ser polymorphism affects total testes volume. Andrology 2013; 1: 293-300.
16. Hollis S, Campbell F. What is meant by intention to treat analysis? Survey of published randomised controlled trials. BMJ 1999; 319: 670-674.
17. Kumar N, Singh AK. Trends of male factor infertility, an important cause of infertility: A review of literature. J Hum Reprod Sci 2015; 8: 191-196.
18. Lotti F, Tamburrino L, Marchiani S, Muratori M, Corona G, Fino MG, Degl'Innocenti S, Forti G, Maggi M, Baldi E. Semen apoptotic M540 body levels correlate with testis abnormalities: A study in a cohort of infertile subjects. Hum Reprod 2012; 27: 3393-3402.
19. Mallidis C, Cooper TG, Hellenkemper B, Lablans M, Uckert F, Nieschlag E. Ten years' experience with an external quality control program for semen analysis. Fertil Steril 2012; 98: 611-616.e4.
20. Marchiani S, Tamburrino L, Maoggi A, Vannelli GB, Forti G, Baldi E, Muratori M. Characterization of M540 bodies in human semen: Evidence that they are apoptotic bodies. Mol Hum Reprod 2007; 13: 621-631.
21. Muratori M, Marchiani S, Tamburrino L, Tocci V, Failli P, Forti G, Baldi E. Nuclear staining identifies two populations of human sperm with different DNA fragmentation extent and relationship with semen parameters. Hum Reprod 2008; 23: 1035-1043.
22. Muratori M, Tamburrino L, Tocci V, Costantino A, Marchiani S, Giachini C, Laface I, Krausz C, Meriggiola MC, Forti G et al. Small variations in crucial steps of TUNEL assay coupled to flow cytometry greatly affect measures of sperm DNA fragmentation. J Androl 2010; 31: 336-345.
23. Muratori M, Marchiani S, Tamburrino L, Cambi M, Lotti F, Natali I, Filimberti E, Noci I, Forti G, Maggi M et al. DNA fragmentation in brighter sperm predicts male fertility independently from age and semen parameters. Fertil Steril 2015a; 104: 582-590 e584.
24. Muratori M, Tamburrino L, Marchiani S, Cambi M, Olivito B, Azzari C, Forti G, Baldi E. Investigation on the origin of sperm DNA fragmentation: Role of apoptosis, immaturity and oxidative stress. Mol Med 2015b; 21: 109-122.
25. Nardelli AA, Stafinski T, Motan T, Klein K, Menon D. Assisted reproductive technologies (ARTs): Evaluation of evidence to support public policy development. Reprod Health 2014; 11: 76.
26. Perez Mayorga M, Gromoll J, Behre HM, Gassner C, Nieschlag E, Simoni M. Ovarian response to follicle-stimulating hormone (FSH) stimulation depends on the FSH receptor genotype. J Clin Endocrinol Metab 2000; 85: 3365-3369.
27. Ruwanpura SM, McLachlan RI, Matthiesson KL, Meachem SJ. Gonadotrophins regulate germ cell survival, not proliferation, in normal adult men. Hum Reprod 2008a; 23: 403-411.
28. Ruwanpura SM, McLachlan RI, Stanton PG, Meachem SJ. Follicle-stimulating hormone affects spermatogonial survival by regulating the intrinsic apoptotic pathway in adult rats. Biol Reprod 2008b; 78: 705-713.
29. Santi D, Granata AR, Simoni M. FSH treatment of male idiopathic infertility improves pregnancy rate: A meta-Analysis. Endocr Connect 2015; 4: R46-R58.
30. Selice R, Garolla A, Pengo M, Caretta N, Ferlin A, Foresta C. The response to FSH treatment in oligozoospermic men depends on FSH receptor gene polymorphisms. Int J Androl 2011; 34: 306-312.
31. Simoni M, Casarini L. Potential for pharmacogenetic use of FSH: A 2014-And-beyond view. Eur J Endocrinol 2013; 170: R91-107.
32. Simoni M, Casarini L. Mechanisms in endocrinology: Genetics of FSH action: A 2014-And-beyond view. Eur J Endocrinol 2014; 170: R91-107.
33. Tamburrino L, Marchiani S, Montoya M, Elia Marino F, Natali I, Cambi M, Forti G, Baldi E, Muratori M. Mechanisms and clinical correlates of sperm DNA damage. Asian J Androl 2012; 14: 24-31.
34. Tuttelmann F, Laan M, Grigorova M, Punab M, Sober S, Gromoll J.Combined effects of the variants FSHB -211G > T and FSHR 2039A > G on male reproductive parameters. J Clin Endocrinol Metab 2012; 97: 3639-3647.
35. WHO. WHO Laboratory Manual for the Examination and Processing of Human Semen, 5th edn. Geneva, Switzerland: WHO Press, 2010.
36. Wyrobek AJ, Eskenazi B, Young S, Arnheim N, Tiemann-Boege I, Jabs EW, Glaser RL, Pearson FS, Evenson D. Advancing age has differential effects on DNA damage, chromatin integrity, gene mutations, and aneuploidies in sperm. Proc Natl Acad Sci U S A 2006; 103: 9601-9606.