The FSHB -211G>T variant attenuates serum FSH levels in the supraphysiological gonadotropin setting of Klinefelter syndrome

European Journal of Human Genetics

Volumn 23, Issue 5, 2015, Pages 700-703

  Busch, Alexander S ^a   Tüttelmann, Frank ^b   Zitzmann, Michael ^a   Kliesch, Sabine ^a   Gromoll, Jörg ^a  

^a INST OF REPRO MED OF THE UNIV   (Germany)

^b UNIVERSITY OF MÜNSTER   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

FOLLITROPIN BETA SUBUNIT; FOLLITROPIN RECEPTOR; GONADOTROPIN; TESTOSTERONE; FOLLITROPIN;

ADULT; AGED; ALLELE; ARTICLE; CONTROLLED STUDY; FOLLITROPIN BLOOD LEVEL; GENETIC VARIABILITY; GENOTYPE; HUMAN; HUMAN CELL; KLINEFELTER SYNDROME; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; RETROSPECTIVE STUDY; SERTOLI CELL; SINGLE NUCLEOTIDE POLYMORPHISM; ADOLESCENT; BLOOD; GENETICS; METABOLISM; MIDDLE AGED; YOUNG ADULT;

ADOLESCENT; ADULT; AGED; ALLELES; FOLLICLE STIMULATING HORMONE; FOLLICLE STIMULATING HORMONE, BETA SUBUNIT; GENOTYPE; GONADOTROPINS; HUMANS; KLINEFELTER SYNDROME; MALE; MIDDLE AGED; POLYMORPHISM, SINGLE NUCLEOTIDE; RETROSPECTIVE STUDIES; YOUNG ADULT;

EID: 84928063265     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2014.142     Document Type: Article

References (22)

1. Tüttelmann F, Gromoll J: Novel genetic aspects of Klinefelters syndrome. Mol Hum Reprod 2010; 16: 386-395.
2. Kamischke A, Baumgardt A, Horst J, Nieschlag E: Clinical and diagnostic features of patients with suspected Klinefelter syndrome. J Androl 2003; 24: 41-48.
3. Bojesen A, Juul S, Gravholt CH: Prenatal and postnatal prevalence of Klinefelter syndrome: a national registry study. J Clin Endocrinol Metab 2003; 88: 622-626.
4. Means AR, Fakunding JL, Huckins C, Tindall DJ, Vitale R: Follicle-stimulating hormone, the Sertoli cell, and spermatogenesis. Recent Prog Horm Res 1976; 32: 477-527.
5. Peterson Jr NT, Midgley Jr AR, Jaffe RB: Regulation of human gonadotropins. 3. Luteinizing hormone and follicle stimulating hormone in sera from adult males. J Clin Endocrinol Metab 1968; 28: 1473-1478.
6. Lanfranco F, Kamischke A, Zitzmann M, Nieschlag E: Klinefelters syndrome. Lancet 2004; 364: 273-283.
7. 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.
8. Grigorova M, Punab M, Poolamets O et al: Increased prevalance of the -211 T 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.
9. Ferlin A, Vinanzi C, Selice R, Garolla A, Frigo AC, Foresta C: Toward a pharmacogenetic approach to male infertility: polymorphism of follicle-stimulating hormone betasubunit promoter. Fertil Steril 2011; 96: e1342.
10. Tüttelmann F, Laan M, Grigorova M, Punab M, Sober S, Gromoll J: Combined Effects of the Variants FSHB -211G/T and FSHR 2039A4G on Male Reproductive Parameters. J Clin Endocrinol Metab 2012; 97: 3639-3647.
11. Grigorova M, Punab M, Punab AM et al: Reproductive physiology in young men is cumulatively affected by FSH-action modulating genetic variants: FSHR -29G/A and c.2039 A/G, FSHB -211G/T. PLoS One 2014; 9: e94244.
12. Tüttelmann F, Luetjens CM, Nieschlag E: Optimising workflow in andrology: a new electronic patient record and database. Asian J Androl 2006; 8: 235-241.
13. Vermeulen A, Verdonck L, Kaufman JM: A critical evaluation of simple methods for the estimation of free testosterone in serum. J Clin Endocrinol Metab 1999; 84: 3666-3672.
14. Cleves MA: Exploratory analysis of single nucleotide polymorphism (SNP) for quantitative traits. Stata J 2005; 5: 141-153.
15. Aksglaede L, Christiansen P, Sorensen K et al: Serum concentrations of anti-Mullerian hormone (AMH) in 95 patients with Klinefelter syndrome with or without cryptorchidism. Acta Paediatr 2011; 100: 839-845.
16. Schüring AN, Busch AS, Bogdanova N, Gromoll J, Tüttelmann F: Effects of the FSHbeta-subunit promoter polymorphism -211G-4T on the hypothalamic-pituitary-ovarian axis in normally cycling women indicate a gender-specific regulation of gonadotropin secretion. J Clin Endocrinol Metab 2013; 98: E82-E86.
17. La Marca A, Papaleo E, Alviggi C et al: The combination of genetic variants of the FSHB and FSHR genes affects serum FSH in women of reproductive age. Hum Reprod 2013; 28: 1369-1374.
18. Benson CA, Kurz TL, Thackray VG: A human FSHB promoter SNP associated with low FSH levels in men impairs LHX3 binding and basal FSHB transcription. Endocrinology 2013; 154: 3016-3021.
19. Pfaeffle RW, Savage JJ, Hunter CS et al: Four novel mutations of the LHX3 gene cause combined pituitary hormone deficiencies with or without limited neck rotation. J Clin Endocrinol Metab 2007; 92: 1909-1919.
20. Tüttelmann F, Damm OS, Luetjens CM et al: Intratesticular testosterone is increased in men with Klinefelter syndrome and may not be released into the bloodstream owing to altered testicular vascularization - a preliminary report. Andrology 2014.
21. Chavarro JE, Toth TL, Wright DL, Meeker JD, Hauser R: Body mass index in relation to semen quality, sperm DNA integrity, and serum reproductive hormone levels among men attending an infertility clinic. Fertil Steril 2010; 93: 2222-2231.
22. Moroz EV, Verkhratsky NS: Hypophyseal-gonadal system during male aging. Arch Gerontol Geriatr 1985; 4: 13-19.