NICHD Amenorrhea Research Goals

NICHD's research efforts related to amenorrhea address its underlying causes and recognize it as an important indicator of women's health. NICHD-supported research focuses on amenorrhea within the context of investigating ovarian function in conditions such as Fragile X-associated primary ovarian insufficiency (FXPOI) and polycystic ovary syndrome (PCOS), as well as infertility.

NICHD research on amenorrhea includes (but is not limited to):

  • Genetics of puberty. NICHD-supported studies on genetic mutations examine how mutations disrupt puberty and affect fertility.1
  • Role of gonadotropin-releasing hormone (GnRH) deficiency in amenorrhea. Researchers are studying the genetic basis of functional hypothalamic amenorrhea to understand if this reversible deficiency, commonly triggered by excessive exercise, nutritional deficits, or stress, is genetically induced.2
  • Impact of, treatment therapies for, and role of FMR1 premutation in FXPOI and ovarian function.3 Research goals related to amenorrhea and ovarian function include:
    • Understanding the role of the FMR1 repeat expansion in ovarian function and reproductive aging
    • Establishing longitudinal studies examining the course of FXPOI from menstrual irregularities to associated symptoms such as estrogen deficiency and consequent osteoporosis, and cardiovascular risk
    • Determining the symptoms that may trigger an FMR1diagnostic test
    • Raising awareness of amenorrhea as an important symptom for conditions such as FXPOI, PCOS, and infertility
  • Effects of gynecologic disorders such as PCOS on fertility rates and the prevention of infertility from these disorders. NICHD research is seeking to understand how these disorders may affect the choice of infertility treatments.3


  1. Caronia, L. M., Martin, C., Welt, C. K., Sykiotis, G. P., Quinton, R., Thambundit, A., et al. (2011). A genetic basis for functional hypothalamic amenorrhea. New England Journal of Medicine, 364, 215−225. Retrieved May 31, 2016, from external link
  2. NICHD. (2001). Reproductive Health for the 21st Century. Retrieved May 31, 2016, from (PDF 4.75 MB)
  3. NIH. (2008). NIH research plan on fragile X symptoms and related disorders. Retrieved May 31, 2016, from (PDF 439 KB)
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