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A genetic basis for functional hypothalamic amenorrhea.

Authors
  • Caronia, Lisa M
  • Martin, Cecilia
  • Welt, Corrine K
  • Sykiotis, Gerasimos P
  • Quinton, Richard
  • Thambundit, Apisadaporn
  • Avbelj, Magdalena
  • Dhruvakumar, Sadhana
  • Plummer, Lacey
  • Hughes, Virginia A
  • Seminara, Stephanie B
  • Boepple, Paul A
  • Sidis, Yisrael
  • Crowley, William F Jr
  • Martin, Kathryn A
  • Hall, Janet E
  • Pitteloud, Nelly
Type
Published Article
Journal
New England Journal of Medicine
Publisher
New England Journal of Medicine
Publication Date
Jan 20, 2011
Volume
364
Issue
3
Pages
215–225
Identifiers
DOI: 10.1056/NEJMoa0911064
PMID: 21247312
Source
Medline
License
Unknown

Abstract

Rare variants in genes associated with idiopathic hypogonadotropic hypogonadism are found in women with hypothalamic amenorrhea, suggesting that these mutations may contribute to the variable susceptibility of women to the functional changes in GnRH secretion that characterize hypothalamic amenorrhea. Our observations provide evidence for the role of rare variants in common multifactorial disease. (Funded by the Eunice Kennedy Shriver National Institute of Child Health and Human Development and others; ClinicalTrials.gov number, NCT00494169.).

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