Mutations in HFM1 in Recessive Primary Ovarian Insufficiency
N Engl J Med 2014; 370:972-974, March 6, 2014
Jian Wang, M.S, Wenxiang Zhang, M.D., Hong Jiang, M.D., Ph.D., Bai-Lin Wu, M.Med., Ph.D.


Short description:
Nonsyndromic primary ovarian insufficiency, which is characterized by amenorrhea with elevated gonadotropin levels, is observed in 1% of otherwise healthy women under the age of 40 years. It is a heterogeneous disease, and most cases appear to be sporadic, yet familial cases are observed in approximately 12% of patients. The disorder is believed to have a strong genetic component, but the underlying cause remains unknown in the majority of patients.
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