| Affiliation: | 1.INSERM UMR 384,Faculté de Médecine,Clermont-Ferrand cedex,France;2.Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke,National Institutes of Health,Bethesda,USA;3.National Institute of Child Health and Human Development,National Institutes of Health,Bethesda,USA |
| Abstract: | Background Premature Ovarian Failure (POF), defined as the development of hypergonadotropic amenorrhea before the age of 40 years, occurs in about 1% of all women. Other than karyotype abnormalities, very few genes are known to be associated with this ovarian dysfunction. Recently, in seven patients who presented with POF and white matter abnormalities on MRI (ovarioleukodystrophy) eight mutationswere found in EIF2B2, 4 and 5. |
