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Estrogen receptor ? polymorphism in boys with constitutional delay of growth and puberty.


ABSTRACT: PURPOSE:There were a lot of reports regarding associations of polymorphisms in the estrogen receptor ? (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.

SUBMITTER: Kang BH 

PROVIDER: S-EPMC4027098 | biostudies-literature | 2013 Jun

REPOSITORIES: biostudies-literature

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Publications

Estrogen receptor α polymorphism in boys with constitutional delay of growth and puberty.

Kang Byung Ho BH   Kim So Youn SY   Park Mun Suk MS   Yoon Kyung Lim KL   Shim Kye Shik KS  

Annals of pediatric endocrinology & metabolism 20130630 2


<h4>Purpose</h4>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.<h4>Methods</h4>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 f  ...[more]

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