title: Estrogen receptor α polymorphism in boys with constitutional delay of growth and puberty.
abstract: OBJECTIVE
  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).
  
  
  CONCLUSIONS
  The genetic variation of ESR1 can be a contributing factor of tempo of growth and puberty.
authors.affiliation: Department of Pediatrics, Kyung Hee University School of Medicine, Seoul, Korea.
authors.forename: Byung Ho
authors.initials: BH
authors.lastname: Kang
authors.affiliation: Department of Pediatrics, Kyung Hee University School of Medicine, Seoul, Korea.
authors.forename: So Youn
authors.initials: SY
authors.lastname: Kim
authors.affiliation: Department of Pediatrics, Kyung Hee University School of Medicine, Seoul, Korea.
authors.forename: Mun Suk
authors.initials: MS
authors.lastname: Park
authors.affiliation: Department of Pediatrics, Kyung Hee University School of Medicine, Seoul, Korea.
authors.forename: Kyung Lim
authors.initials: KL
authors.lastname: Yoon
authors.affiliation: Department of Pediatrics, Kyung Hee University School of Medicine, Seoul, Korea.
authors.forename: Kye Shik
authors.initials: KS
authors.lastname: Shim
keywords: Eestrogen receptor alpha; Puberty; polymorphism; single nucleotide