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 ...