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Published on: October 13, 2018
Estrogen receptor α polymorphism in boys with constitutional delay of growth and puberty
Byung Ho Kang1, So Youn Kim1, Mun Suk Park1
1Department of Pediatrics, Kyung Hee University School of Medicine, Seoul, Korea.
Purpose:
There were a lot of reports regarding associations of polymorphisms in the estrogen receptor α (ESR1). with many disorders. But, those with constitutional delay of growth and puberty (CDGP) are not known. Our aim is to find out any association between CDGP and ESR1.
Methods:
In a total of 27 subjects, we compared 7 CDGP patients with 20 healthy controls with their heights and sexual maturity rates were within normal range. We selected three single nucleotide polymorphisms from intron 1 of ESR1 (rs3778609, rs12665044, and rs827421) as candidates, respectively.
Results:
In genotype analyses, the frequency of G/G genotype at rs827421 in intron 1 of ESR1 was increased in CDGP boys (P=0.03).
Conclusion:
The genetic variation of ESR1 can be a contributing factor of tempo of growth and puberty.
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