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Article

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

European journal of human genetics : EJHG - 1 May 2015

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

Abstract excerpt

Klinefelter syndrome (47, XXY) is the most frequent genetic cause of male infertility and individuals share the endocrine hallmark of hypergonadotropic hypogonadism. Single-nucleotide polymorphisms located within the FSHB/FSHR gene were recently shown to impact serum follicle-stimulating hormone (FSH) levels and other reproductive parameters in men. The objective of this study was to analyse the effect of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 25052309
DOI: 10.1038/ejhg.2014.142
PMCID: PMC4402621

Genes

FSHB
FSHR

Variants

rs10835638

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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The FSHB -211G>T variant attenuates serum FSH levels in the supraphysiological gonadotropin setting of Klinefelter syndrome.PMID 25052309Read ↗

Effects of the FSH-β-subunit promoter polymorphism -211G->T on the hypothalamic-pituitary-ovarian axis in normally cycling women indicate a gender-specific regulation of gonadotropin secretion.Semantic proximity Read ↗

FSHB -211 G>T is a major genetic modulator of reproductive physiology and health in childbearing age women.Semantic proximity Read ↗

Combined effects of the variants FSHB -211G>T and FSHR 2039A>G on male reproductive parameters.Semantic proximity Read ↗

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The combination of genetic variants of the FSHB and FSHR genes affects serum FSH in women of reproductive age.Semantic proximity Read ↗

Increased Prevalance of the -211 T allele of follicle stimulating hormone (FSH) beta subunit promoter polymorphism and lower serum FSH in infertile men.Semantic proximity Read ↗

Genetically determined dosage of follicle-stimulating hormone (FSH) affects male reproductive parameters.Semantic proximity Read ↗

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.Semantic proximity Read ↗

Impact of the FSHB gene -211G/T polymorphism on male gonadal function.Semantic proximity Read ↗

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Association between follicle-stimulating hormone receptor polymorphisms and reproductive parameters in young men from the general population.Semantic proximity Read ↗

Genetic variations altering FSH action affect circulating hormone levels as well as follicle growth in healthy peripubertal girls.Semantic proximity Read ↗

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