Mutations in HFM1 in Recessive Primary Ovarian Insufficiency

To the Editor: 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. 1 , 2 Although there is no direct evidence that meiotic gene expression is involved in this disorder, several meiotic-gene knockout mice have had phenotypes resembling human primary ovarian . . .