Ann Pediatr Endocrinol Metab.
2013 Jun;18(2):71-75. 10.6065/apem.2013.18.2.71.
Estrogen receptor alpha polymorphism in boys with constitutional delay of growth and puberty
- Affiliations
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- 1Department of Pediatrics, Kyung Hee University School of Medicine, Seoul, Korea. 64sks@khnmc.or.kr
- KMID: 2047464
- DOI: http://doi.org/10.6065/apem.2013.18.2.71
Abstract
- PURPOSE
There were a lot of reports regarding associations of polymorphisms in the estrogen receptor alpha (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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