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

• Kang BH
• Kim SY
• Park MS
• Yoon KL
• Shim KS

• 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.

Keyword

Eestrogen receptor alpha; polymorphism; single nucleotide; Puberty

MeSH Terms

Cyclic N-Oxides
Estrogen Receptor alpha
Estrogens
Genetic Variation
Genotype
Humans
Introns
Polymorphism, Single Nucleotide
Puberty
Reference Values
Cyclic N-Oxides
Estrogen Receptor alpha
Estrogens

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