ESPE Abstracts (2015) 84 P-2-497

ESPE2015 Poster Category 2 Perinatal (11 abstracts)

Genetic Variation in the FSH Signalling Pathway Affects Female Reproductive Hormones During Infancy

Louise S Henriksen , Casper P Hagen , Maria Assens , Kristian Almstrup & Katharina M Main


Department of Growth and Reproduction, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark


Background: Studies have shown that genetic variations in the FSH pathway (SNPs: FSHB −211G>T, FSHR −29G>A, and FSHR 2039A>G) affect peripubertal levels of serum FSH and age at pubertal onset in girls.

Objective and hypotheses: Genetic variations in the FSH pathway reflect circulating levels of female reproductive hormones during the postnatal gonadotropin surge.

Method: Blood samples were taken in girls of the Copenhagen Mother-Child Cohort at the age of 3 months and reproductive hormones measured by immunoassays. 235 girls were genotyped for FSH SNPs using KASP assays. Differences in hormone levels between genotypes were analysed with Kruskal-Wallis test.

Results: Girls homozygous for the minor allele FSHR -29AA showed a significantly lower level of serum FSH (median 3.1 IU/l) compared to the more common variants GG and GA (medians 4.1 and 3.5 respectively), P=0.016. Lower circulating oestradiol was observed in homozygous carriers of the minor allele FSHR 2039GG (median 23.5 pmol/l) compared to carriers of AA and AG (medians 31.0 and 33.0 respectively), P=0.052. No significant associations were found with LH, SHBG, inhibin A, and inhibin B.

Conclusion: As expected, reduced FSHR transduction (FSHR 2039GG) was associated with lower oestradiol levels. We were puzzled to find a negative association of FSHR −29 minor allele with FSH levels. Whether this reflects immature regulation of the HPG axis during the neonatal gonadotropin surge remains to be elucidated.

Volume 84

54th Annual ESPE (ESPE 2015)

Barcelona, Spain
01 Oct 2015 - 03 Oct 2015

European Society for Paediatric Endocrinology 

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