Increased prevalance of the -211 T allele of follicle stimulating hormone (FSH) β subunit promoter polymorphism and lower serum FSH in infertile men

Journal of Clinical Endocrinology and Metabolism

Volumn 95, Issue 1, 2010, Pages 100-108

  Grigorova, Marina ^a   Punab, Margus ^b   Poolamets, Olev ^b   Kelgo, Piret ^a   Ausmees, Kristo ^b   Korrovits, Paul ^b   Vihljajev, Vladimir ^b   Laan, Maris ^a  

^a UNIVERSITY OF TARTU   (Estonia)

^b TARTU UNIVERSITY CLINICS   (Estonia)

Author keywords

[No Author keywords available]

Indexed keywords

FOLLITROPIN BETA SUBUNIT; LUTEINIZING HORMONE;

ADULT; ALLELE; ARTICLE; CONTROLLED STUDY; FOLLITROPIN BLOOD LEVEL; GENE FREQUENCY; GENETIC MARKER; GENOTYPE; HETEROZYGOTE; HOMOZYGOTE; HUMAN; MAJOR CLINICAL STUDY; MALE; MALE INFERTILITY; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; SPERMATOGENESIS; SPERMATOZOON DENSITY;

EID: 75149119672     PISSN: 0021972X     EISSN: 0021972X     Source Type: Journal    
DOI: 10.1210/jc.2009-1010     Document Type: Article

References (33)

1. Moyle WR, Campbell RK 1996 Gonadotropins. In: Adashi EY, Rock JA, Rosenwaks Z, eds. Reproductive endocrinology, surgery and technology. Philadelphia: Lippincott-Raven Publishers; 684-724
2. Howles CM 2000 Role of LH and FSH in ovarian function. Mol Cell Endocrinol 161:25-30
3. McGee EA, Hsueh AJ 2000 Initial and cyclic recruitment of ovarian follicles. Endocr Rev 21:200-214
4. van Alphen MM, van de Kant HJ, de Rooij DG 1988 Follicle-stimulating hormone stimulates spermatogenesis in the adult monkey. Endocrinology 123:1449-1455
5. Moudgal NR, Sairam MR 1998 Is there a true requirement for follicle stimulating hormone in promoting spermatogenesis and fertility in primates? Hum Reprod 13:916-919
6. Nieschlag E, Simoni M, Gromoll J, Weinbauer GF 1999 Role of FSH in the regulation of spermatogenesis: clinical aspects. Clin Endocrinol (Oxf) 51:139-146
7. Plant TM, Marshall GR 2001 The functional significance of FSH in spermatogenesis and the control of its secretion in male primates. Endocr Rev 22:764-786
8. Foresta C, Selice R, Ferlin A, Arslan P, Garolla A 2007 Hormonal treatment of male infertility: FSH. Reprod Biomed Online 15: 666-672
9. Foresta C, Selice R, Garolla A, Ferlin A 2008 Follicle-stimulating hormone treatment of male infertility. Curr Opin Urol 18:602-607
10. Miller WL, Shafiee-Kermani F, Strahl BD, Huang HJ 2002 The nature of FSH induction by GnRH. Trends Endocrinol Metab 13: 257-263
11. Jameson JL, Becker CB, Lindell CM, Habener JF 1988 Human follicle-stimulating hormone β-subunit gene encodes multiple messenger ribonucleic acids. Mol Endocrinol 2:806-815
12. Lamminen T, Jokinen P, Jiang M, Pakarinen P, Simonsen H, Huhtaniemi I 2005 Human FSHβ subunit gene is highly conserved. Mol Hum Reprod 11:601-605
13. Grigorova M, Rull K, Laan M 2007 Haplotype structure of FSHB, the β-subunit gene for fertility-associated follicle-stimulating hormone: possible influence of balancing selection. Ann Hum Genet 71:18-28
14. Huhtaniemi I 2003 Mutations affecting gonadotropin secretion and action. Horm Res 60(Suppl 3):21-30
15. Berger K, Souza H, Brito VN, d'Alva CB, Mendonca BB, Latronico AC 2005 Clinical and hormonal features of selective follicle-stimulating hormone (FSH) deficiency due to FSH β-subunit gene mutations in both sexes. Fertil Steril 83:466-470
16. Grigorova M, Punab M, Ausmees K, Laan M 2008 FSHB promoter polymorphism within evolutionary conserved element is associated with serum FSH level in men. Hum Reprod 23:2160-2166
17. Webster JC, Pedersen NR, Edwards DP, Beck CA, Miller WL 1995 The 5'-flanking region of the ovine follicle-stimulating hormone-β gene contains six progesterone response elements: three proximal elements are sufficient to increase transcription in the presence of progesterone. Endocrinology 136:1049-1058
18. Hoogendoorn B, Coleman SL, Guy CA, Smith K, Bowen T, Buckland PR, O'Donovan MC 2003 Functional analysis of human promoter polymorphisms. Hum Mol Genet 12:2249-2254
19. Mantovani G, Borgato S, Beck-Peccoz P, Romoli R, Borretta G, Persani L 2003 Isolated follicle-stimulating hormone (FSH) deficiency in a young man with normal virilization who did not have mutations in the FSHβ gene. Fertil Steril 79:434-436
20. Punab M, Korrovits P, Peetsalu A 2003 Diseases influencing male infertility (in Estonian). Eesti Arst 82:181-187
21. Punab M, Zilaitiene B, Jørgensen N, Horte A, Matulevicius V, Peetsalu A, Skakkebaek NE 2002 Regional differences in semen qualities in the Baltic region. Int J Androl 25:243-252
22. World Health Organization 1999 Laboratory manual for examination of human semen and sperm-cervical mucus interaction. 4th ed. New York: Cambridge University Press
23. Menkveld R, Stander FS, Kotze TJ, Kruger TF, van Zyl JA 1990 The evaluation of morphological characteristics of human spermatozoa according to stricter criteria. Hum Reprod 5:586-592
24. Kvist U, Björndahl L, eds. 2002 Manual on basic semen analysis. ESHRE Monographs. Oxford, United Kingdom: Oxford University Press
25. Rousset F 2008 Genepop '007: A complete reimplementation of the Genepop software for Windows and Linx. Mol Ecol Resources 8:103-106
26. Ahda Y, Gromoll J, Wunsch A, Asatiani K, Zitzmann M, Nieschlag E, Simoni M 2005 Follicle-stimulating hormone receptor gene haplotype distribution in normozoospermic and azoospermic men. J Androl 26:494-499
27. Kumar TR, Wang Y, Lu N, Matzuk MM 1997 Follicle stimulating hormone is required for ovarian follicle maturation but not male fertility. Nat Genet 15:201-204
28. Dierich A, Sairam MR, Monaco L, Fimia GM, Gansmuller A, LeMeur, M, Sassone-Corsi P 1998 Impairing follicle-stimulating hormone (FSH) signaling in vivo: targeted disruption of the FSH receptor leads to aberrant gametogenesis and hormonal imbalance. Proc Natl Acad Sci USA 95:13612-13617
29. Plymate SR, Paulsen CA, McLachlan RI 1992 Relationship of serum inhibin levels to serum follicle stimulating hormone and sperm production in normal men and men with varicoceles. J Clin Endocrinol Metab 74:859-864
30. Matsumoto AM, Karpas AE, Paulsen CA, Bremner WJ 1983 Reinitiation of sperm production in gonadotropin-suppressed normal men by administration of follicle-stimulating hormone. J Clin Invest 72:1005-1015
31. Schaison G, Young J, Pholsena M, Nahoul K, Couzinet B 1993 Failure of combined follicle-stimulating hormone-testosterone administration to initiate and/or maintain spermatogenesis in men with hypogonadotropic hypogonadism. J Clin Endocrinol Metab 77:1545-1549
32. Pasqualini RQ, Burr GE 1950 Sindrome hypoandrogenico con gametogenesis conservada. Classificación de la insuficiencia testicular. Rev Assoc Med Argent 64:6-19
33. Gromoll J, Simoni M 2005 Genetic complexity of FSH receptor function. Trends Endocrinol Metab 16:368-373